A 38-year-old woman presented in 2005 with a fatty swelling over the dorsum of her left foot and was subsequently referred\\u000a to our institution following initial biopsy for further management. MRI was performed before and after surgery. This demonstrated\\u000a an ill-defined lesion confined to the subcutaneous tissues on the dorsum of the foot with heterogeneous intermediate and high\\u000a T1 and
Andrew T. West; Andoni P. Toms; Joseph Murphy; Mohammed Sultan
Endobronchial lipomatous polyp is a rare nonmalignant tumor of the lung. It comprises 5% of the benign lung tumor, with the majority of benign tumors being hamartoma. Lipomatous polyp often leads to endobronchial lesion, associated with postobstructive pneumonia, hemoptysis, and atelectasis. We hereby present a case and discussion of an elderly man with endobronchial lipomatous polyp, presenting as recurrent pneumonia.
Surani, Saherish; Varon, Joseph
We present the case of a 58-year-old woman who had large lipomatous hypertrophy of the interventricular septum, a condition that is reported very infrequently. Preoperative cardiac magnetic resonance images revealed an inhomogeneous, infiltrating mass that was suppressed in fat-suppression mode. The extensive mass was causing right ventricular dysfunction, so we excised it through a right ventricular approach. The findings on histologic analysis of the mass were consistent with lipomatous hypertrophy. The patient died of septic shock on the 28th postoperative day. In addition to the patient's case, we discuss the characteristics and diagnosis of this rare entity.
Ak, Koray; Isbir, Selim; Kepez, Alper; Turkoz, Kemal; Elci, Emre; Arsan, Sinan
Hobnail hemangioma (HH), initially termed targetoid hemosiderotic hemangioma, is a rare, often solitary lesion classically characterized by a central brown or violaceous papulonodule surrounded at times by an ecchymotic halo. This lesion is typically found on the trunk or limbs of children or young to middle-aged adults. Numerous case reports have found HHs to have a reproducible histologic appearance. Although the exact histogenesis of these lesions is unknown, multiple recent immunohistochemical studies suggest a lymphatic origin of these lesions. We present six cases of children with HHs with classic histology but with variability in their clinical appearance. Because the clinical presence of a targetoid halo is inconsistent and the hobnail phenomenon is not specific, we favor the designation of superficial hemosiderotic lymphovascular malformation instead of HH or targetoid hemosiderotic hemangioma as a more unifying term for this rare clinical entity. By eliminating confounding terminologies (in this case, incorporation of "hemangioma" in the name of this entity), we also hope to encourage a swifter change in practice to move away from erroneous diagnostic considerations. PMID:24601986
Joyce, Joel C; Keith, Phillip J; Szabo, Sara; Holland, Kristen E
Myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor are rare, slow-growing soft tissue tumors of the distal extremities with recurrent potential. Recent cytogenetic studies have shown a t(1;10)(p22;q24) or der(10)t(1;10) in combination with aberrations of chromosome 3 in a limited number of cases of both entities. Here we report a case of a 42-year-old female with a soft tissue tumor of the ankle showing hybrid morphologic features of myxoinflammatory fibroblastic sarcoma and hemosiderotic fibrolipomatous tumor, a der(10)t(1;10), and abnormalities of chromosome 3. This hybrid lesion provides further evidence for a close relationship between these 2 tumor types. PMID:20871391
Elco, Christopher P; Mariño-Enríquez, Adrián; Abraham, John A; Dal Cin, Paola; Hornick, Jason L
This study examines the presentation, management and outcomes of a series of 10 patients with giant lipomatous tumours (defined as greater than 5 cm diameter) of the hand and forearm who presented to our orthopaedic oncology service. All patients underwent local staging and were discussed at our multidisciplinary tumour meeting prior to definitive surgery. In all cases, neurovascular structures required mobilization in order to excise the tumour. Seven of the tumours were benign lipomas and one was a neural fibrolipoma. The other two were well differentiated lipoma-like liposarcomas/atypical lipomatous tumours. Giant lipomas and well differentiated lipoma-like liposarcomas/atypical lipomatous tumours of the hand and forearm present infrequently and a multidisciplinary approach is recommended in the investigation and surgical management of these patients. PMID:15992974
Cribb, G L; Cool, W P; Ford, D J; Mangham, D C
Lipomatous uterine tumors are uncommon benign neoplasms, with incidence ranging from 0.03% to 0.2%. They can generally be subdivided into two types: pure or mixed lipomas. A third group of malignant neoplasm has been proposed, which is liposarcoma; however, this is very rare. In this article, we report three patients having lipomatous uterine tumors, including one uterine lipoma and two uterine lipoleiomyomas. All our patients are postmenopausal women, which is the typical presenting age group. They did not have any symptoms and the tumors were only found incidentally on imaging. However, in some patients, symptoms may uncommonly occur. If symptoms occur, these are similar to those of leiomyoma. We illustrate the imaging features of the tumors in our patients with ultrasound, computed tomography (CT) scan and magnetic resonance imaging (MRI). The tumor typically appears as a well-defined homogenously hyperechoic lesion on ultrasound. It shows fat density on CT scan and signal intensity of fat on MRI. MRI is the modality of choice because of its multiplanar capability and its ability to demonstrate fat component of the lesion, as illustrated in our cases. We also discuss the importance of differentiating lipomatous uterine tumors from other lesions, especially ovarian teratoma which requires surgical intervention. Despite the rarity and the common asymptomatic nature of the tumors, we believe that this series of three cases demonstrates a review of a rare tumor which provides important knowledge for patient management.
Chu, Chi-Yeung; Tang, Yip-Kan; Chan, Tin-Sang Augustine; Wan, Yu-Hon; Fung, Kai-Hung
Lipomatous hypertrophy of the interatrial septum is a benign cardiac mass characterized by fat accumulation in the interatrial septum. Cardiac arrhythmias including atrial fibrillation, atrial premature contractions and atrioventricular block may occur as a consequence of involvement of the atrial wall and atrioventricular conduction pathways. We describe a patient with lipomatous hypertrophy of the interatrial septum associated with sick sinus syndrome. PMID:17064791
Sato, Yuichi; Matsuo, Shinro; Kusama, Junji; Kunimasa, Taeko; Yoda, Shunichi; Matsumoto, Naoya; Tani, Shigemasa; Saito, Satoshi
Lipomatous hypertrophy of the interatrial septum is a benign cardiac mass characterized by fat accumulation in the interatrial septum. Cardiac arrhythmias including atrial fibrillation, atrial premature contractions and atrioventricular block may occur as a consequence of involvement of the atrial wall and atrioventricular conduction pathways. We describe a patient with lipomatous hypertrophy of the interatrial septum associated with sick sinus
Yuichi Sato; Shinro Matsuo; Junji Kusama; Taeko Kunimasa; Shunichi Yoda; Naoya Matsumoto; Shigemasa Tani; Satoshi Saito
Liposarcoma is the most common soft tissue malignant tumor. It mostly arises in the subcutaneous tissue of shoulders, limbs and neck, and retroperitoneal space, but head occurrence is very rare. Atypical lipomatous tumor (ALT) is a well-differentiated liposarcoma (WDLPS) and constitutes 40-45% of all liposarcoma cases. A case of 57-year-old woman with a tumor of the left cheek, causing a discreet face asymmetry is presented. The tumor was soft and caused no tenderness. The patient reported no previous injury of the region. Fine-needle aspiration biopsy (FNAB) revealed atypical cells suspected of liposarcoma. MR examination showed fascicles of adipose tissue, which made the left cheek prominent. The patient was operated under general anaesthesia. Adipose tissue of the left cheek was removed. Postoperative course was uneventful. The final histopathological diagnosis - was atypical lipomatous tumor/well-differentiated liposarcoma (ALT/WDLPS). The patient remains under laryngological care. No recurrence of the disease has been observed during the 5 years follow-up. PMID:23911052
Kaczmarczyk, Dariusz; Jesionek-Kupnicka, Dorota; Kubiak, Marcin; Morawiec-Sztandera, Alina
A 26-year-old male presented with an asymptomatic 6-cm left paratesticular mass. Ultrasound and magnetic resonance imaging confirmed this mass as extratesticular, likely a tumour arising from the left spermatic cord. The mass demonstrated marked avid enhancement on post-contrast images, suggestive of a spermatic cord sarcoma. A left inguinal exploration was performed and gross examination of the mass revealed a well-circumscribed tumour with a discrete capsule separating it from the ipsilateral spermatic cord. The mass was resected without performing an orchiectomy and histology demonstrated a solitary fibrous tumour (lipomatous hemangiopericytoma), with minimal proliferative activity and negative margins. The occurrence of a paratesticular solitary fibrous tumour is exceedingly rare, with only a handful of case reports. We review the literature regarding this rare entity and discuss its diagnosis and management.
Barazani, Yagil; Tareen, Basir
Lipomatous hemangiopericytoma is a rare variant of hemangiopericytoma. Only a few cases of LHPC have been reported to date, with only two cases of this entity having been reported in the head and neck area, and none intracranially. We present the clinical, radiological, and histological features of the first reported case of a sellar lipomatous hemangiopericytoma, and review the literature. Material and Methods We report a case of a 51-year-old man who presented with visual field compromise and was thought to have a pituitary adenoma based on clinical, radiographic and endocrinologic workup; a sellar mass with suprasellar extension was found. Results Histological and immunohistochemical studies demonstrated evidence of a lipomatous hemangiopericytoma of the sellar region. Conclusion A handful of sellar hemangiopericytomas mimicking pituitary adenomas have been previously described. Although one case of lipomatous hemangiopericytoma has been reported in the soft tissues of the occipital region, and one in the skull base and jugular foramen, to our knowledge this is the first reported case of an intracranial (sellar) lipomatous hemangiopericytoma. This tumor represents a distinctive pathologic entity that can only be diagnosed on histological examination. PMID:24695483
Esquenazi, Yoshua; Shank, Christopher; Tandon, Nitin; Bhattacharjee, Meenakshi
As experience is acquired, there is a constant evolution in both terminology and understanding of various relatively newly described tumors in the realm of dermatopathology. Several mesenchymal tumors of the lower extremity have undergone various changes in nomenclature, molecular discoveries, and histologic grading. Examples include hemosiderotic fibrohistiocytic lipomatous lesion/pleomorphic hyalinizing angiectatic tumor; superficial acral fibromyxoma; and myxoinflammatory fibroblastic sarcoma. Primary cutaneous myoepithelioma is also a relatively newly described entity for which grading and classification continue to evolve. Finally, even our understanding of the classic granular cell tumor has expanded to include a non-neural variant. This article reviews the current nomenclature, emerging concepts, and differential diagnosis of these evolving entities. PMID:21790713
Lewin, Marc Roy; Montgomery, Elizabeth A; Barrett, Terry L
Lipomatous lesions rarely involve the bronchial tree, and detailed morphologic and molecular cytogenetic analysis of these tumors is lacking. The clinicopathologic features of 12 endobronchial lipomatous neoplasms were studied, with ancillary fluorescence in situ hybridization performed in subsets of cases for CPM, which is amplified in atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDL), and HMGA1 and HMGA2, which are often rearranged in lipomas. The cases occurred predominately in older men (91%) (age range 44 to 80 y, mean 65 y). Most patients (80%) had a former or current history of heavy smoking (20 to 100 pack-years). Three patients had concurrent pulmonary squamous cell carcinoma, and 1 had a history of multiple lung cancers. Most lesions were small (<2.5 cm) and discovered incidentally. A subset of tumors showed atypical morphologic features that would be suggestive of ALT/WDL in soft tissue sites, including regions of fibrosis and scattered hyperchromatic stromal cells. However, all cases with atypia were CPM negative and behaved in a clinically benign manner. Seven cases were tested for HMGA1 and HMGA2 rearrangement; 4 showed HMGA2 rearrangement, and 1 showed HMGA1 rearrangement, consistent with lipomas. Two cases were negative for HMGA1/2 rearrangements. We conclude that endobronchial lipomatous neoplasms represent lipomas, even in the presence of morphologic features suggestive of ALT/WDL. Ancillary fluorescence in situ hybridization testing may be very valuable in the analysis of these rare tumors, as true ALT/WDL seem to be very rare or nonexistent at this anatomic site. PMID:24121172
Boland, Jennifer M; Fritchie, Karen J; Erickson-Johnson, Michele R; Oliveira, Andre M; Colby, Thomas V; Folpe, Andrew L
Purpose/results. We evaluated the diagnostic accuracy of magnetic resonance imaging (MRI) for 46 consecutive patients with lipomatous soft tissue tumors prior to biopsy and resection. Twenty-eight patients had benign lipomas and 18 had liposarcomas. Clinical differences between thdse patients with benign disease and those with malignant lesions were average age at the time of presentation (49 years for benign vs 62 years for malignant, p < 0.001) and average length of symptoms prior to resection (64 months for benign versus 38 months for malignant, p = 0.01). MRI characteristics associated with benign disease included: smaller tumor size (9.4 cm average greatest dimension for benign lesions vs 13.4 cm for malignant masses, p = 0.022); a mass with a uniformly homogeneous signal (p = 0.0003); a mass with homogeneous high T1 and T2 signals and a low short-time-inversion-recovery (STIR) signal comparable to normal fat (p < 0.0001). This last signal pattern was not seen in malignant lesions (0/18) and was present in almost all benign lipomas (25/28). The usual MRI descriptions of soft tissue masses such as infiltrating vs encapsulating, deep vs subcutaneous and septated vs non-septated were not helpful predictors of malignancy in this series. Needle biopsies of lipomatous masses with heterogeneous signals on MRI resulted in inaccurate diagnoses due to sampling error in 5/9 patients.Discussion. A carefully planned and performed MRI study of lipomatous masses can accurately predict a benign lipoma whenever a homogeneous high T1 and T2, as well as a low STIR, signal is present. However, a mass with any other signal characteristics must be biopsied carefully in order to make an accurate diagnosis. PMID:18521221
Rougraff, B T; Durbin, M; Lawerence, J; Buckwalter, K
A 69-year-old man underwent endoscopic mucosal resection of a solitary polyp located in the cecum. After the procedure, a fecal mass and appendiceal orifice appeared under the cut surface. A diagnosis of reactive lymphoid hyperplasia was made based on the results of an immunostaining analysis, which revealed a segregated population of T cells and B cells in multiple lymphoid follicles. The aggregation of adipocytes forming a lipomatous area and granulation tissue was also observed. We speculate that the compaction of the fecal mass in the appendix triggered mucosal inflammation, resulting in the formation of the polyp, which concealed both the feces and appendiceal orifice. PMID:24827483
Iwamuro, Masaya; Kawai, Yoshinari; Takata, Katsuyoshi; Miyabe, Yoshio; Okada, Hiroyuki; Yamamoto, Kazuhide
Congenital melanocytic nevus (CMN) is a melanocytic proliferation that has its onset at birth or shortly thereafter and shows characteristic histopathologic features including symmetric proliferation of benign melanocytes, extension of nevus cells into the deep reticular dermis and subcutis, maturation of melanocytes with descent, tracking of melanocytes around and within adnexal structures, vessels, or nerves and splaying of collagen bundles by nevus cells arranged in single rows or cords. We report the case of a 34 year old previously healthy woman who presented with a progressively enlarging soft tissue mass in the right neck and back adjacent to a medium sized CMN. Magnetic resonance imaging showed multiple lipomatous masses within the soft tissues of the posterior superficial neck. Subsequent excision of the soft tissue mass showed a well circumscribed lipomatous lesion with diffuse infiltration by benign appearing melanocytes within the fat lobules. Excision of the mass was not accompanied by overlying skin and, thus, posed a diagnostic challenge. Sudden increase in the size of a CMN is worrisome for the development of a melanoma, however, this lesion lacked significant cytologic atypia and mitotic figures, and had a low proliferative index by Ki-67 immunohistochemistry. This case serves to illustrate the initial diagnostic dilemma as well as the plasticity of the neural crest cells. PMID:23649716
Patel, Kalyani R; Chernock, Rebecca; Lewis, James S; Raptis, Constantine A; Al Gilani, Maha; Dehner, Louis P
We conducted a comprehensive study of all lipomatous tumors of the oral mucosa (1996-2008) accessioned at the Department of Oral Pathology, Tel Aviv University, collected demographic data and analyzed multiple histomorphological features. Furthermore, we examined the immunostaining of aP2 (adipocyte lipid binding protein) and the polarization colors of picrosirius red (PSR)-stained collagen fibers in order to test their potential in differentiating between benign and malignant tumors. All cases were immunohistochemically stained with aP2 antibody; only tumors with considerable collagenous stroma were selected for the PSR staining. A total of 77 tumors were included in the study, 91% benign and 9% malignant. Fibrolipoma (37.7%) and lipoma (36.4%) were the most frequent tumors. Atypical lipomatous tumor (ALT) was the only type of malignancy. The most common location for the benign tumors was the buccal mucosa and for ALT, the tongue. Histomorphological features characteristic of malignant tumors were occasionally present also in the benign entities. Expression of aP2 was similar in all tumors, while the polarization colors of the PSR-stained collagen fibers differed significantly between ALT and benign tumors (p<0.05). Benign and malignant tumors occasionally show overlapping histomorphological features that require a meticulous examination. PSR staining with polarization microscopy could aid in differentiating malignant from benign tumors in equivocal cases. PMID:21376375
Allon, Irit; Aballo, Sara; Dayan, Dan; Vered, Marilena
Despite their shared predilection for superficial soft tissue of distal extremities and frequent local recurrences, myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT) have distinct morphologic appearances. Recent studies have identified an identical t(1;10)(p22;q24) in five cases of MIFS and two of HFLT, as well as common amplifications on 3p11-12. To investigate further their potential relationship and to determine the incidence of t(1;10) in a larger cohort, we subjected seven MIFS, 14 HFLT, and three cases with mixed morphology, to molecular and cytogenetic analysis. Fluorescence in situ hybridization (FISH) analysis for rearrangements of TGFBR3 on 1p22 and of MGEA5 on 10q24 was performed in all cases, whereas the status of VGLL3 gene amplification on 3p12.1 was investigated in 12 cases. Conventional karyotyping was performed in one HFLT and two cases with mixed MIFS/HFLT histology. Overall 83% of cases showed rearrangements in both TGFBR3 and MGEA5. All three cases with mixed features of MIFS and HFLT were positive. Cytogenetic analysis performed in three cases confirmed an unbalanced der(10)t(1;10)(p22;q24). VGLL3 gene amplification was noted in 10/12 cases of both histologies. The high incidence of t(1;10) in MIFS and HFLT reinforces a shared pathogenetic relationship. Furthermore, the co-existence of both components either synchronously or metachronously in a primary or subsequent recurrence, suggest either different morphologic variants or different levels of tumor progression of a single biologic entity. FISH analysis for TGFBR3 and MGEA5 rearrangements can be applied as a reliable diagnostic molecular test when confronted with limited material or a challenging diagnosis. PMID:21717526
Antonescu, Cristina R; Zhang, Lei; Nielsen, G Petur; Rosenberg, Andrew E; Dal Cin, Paola; Fletcher, Christopher D M
Despite their shared predilection for superficial soft tissue of distal extremities and frequent local recurrences, myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT) have distinct morphologic appearances. Recent studies have identified an identical t(1;10)(p22;q24) in 5 cases of MIFS and 2 of HFLT, as well as common amplifications on 3p11-12. In order to investigate further their potential relationship and to determine the incidence of t(1;10) in a larger cohort, we subjected 7 MIFS, 14 HFLT, and 3 cases with mixed morphology, to molecular and cytogenetic analysis. FISH analysis for rearrangements of TGFBR3 on 1p22 and of MGEA5 on 10q24 was performed in all cases, while the status of VGLL3 gene amplification on 3p12.1 was investigated in 12 cases. Conventional karyotyping was performed in one HFLT and two cases with mixed MIFS/HFLT histology. Overall 83% of cases showed rearrangements in both TGFBR3 and MGEA5. All three cases with mixed features of MIFS and HFLT were positive. Cytogenetic analysis performed in three cases confirmed an unbalanced der(10)t(1;10)(p22;q24). VGLL3 gene amplification was noted in 10/12 cases of both histologies. The high incidence of t(1;10) in MIFS and HFLT reinforces a shared pathogenetic relationship. Furthermore, the co-existence of both components either synchronously or metachronously in a primary or subsequent recurrence, suggest either different morphologic variants or different levels of tumor progression of a single biologic entity. FISH analysis for TGFBR3 and MGEA5 rearrangements can be applied as a reliable diagnostic molecular test when confronted with limited material or a challenging diagnosis.
Antonescu, Cristina R; Zhang, Lei; Nielsen, G Petur; Rosenberg, Andrew E; Cin, Paola Dal; Fletcher, Christopher DM
INTRODUCTION Intraneural lipoma and fibrolipomatous hamartoma of the nerve are rare soft tissue tumors that most commonly occur in the forearm and the wrist, and particularly within the median nerve. When the lesions are large enough, they may cause progressive compression neuropathy. They are distinct entities each other with different clinical and radiological findings and thereby need different surgical treatments. PRESENTATION OF CASE We report here 3 cases of intraneural lipomatous tumors of the median nerve (1 case of intraneural lipoma and 2 cases of fibrolipomatous hamartoma). DISCUSSION All patients were surgically treated successfully with complete excision for intraneural lipoma and with carpal tunnel releases for the both fibrolipomatous hamartomas. CONCLUSION A careful preoperative planning is necessary for the optimal treatment by distinguishing whether it is a resectable or non-resectable tumor based on the clinical and radiological findings, because they have characteristic findings each other.
Okubo, Taketo; Saito, Tsuyoshi; Mitomi, Hiroyuki; Takagi, Tatsuya; Torigoe, Tomoaki; Suehara, Yoshiyuki; Katagiri, Hirohisa; Murata, Hideki; Takahashi, Mitsuru; Ito, Ichiro; Yao, Takashi; Kaneko, Kazuo
Atypical lipomatous tumor (ALT) is an intermediate (locally aggressive) mesenchymal neoplasm with the potential to dedifferentiate to higher grades over time. It is cytogenetically characterized by the presence of one or more supernumerary ring and giant marker chromosomes. These abnormal chromosomes invariably contain amplified sequences derived from the 12q14-15 region. We describe a unique cytogenetic finding of ALT arising in the right lower back of a 42-year-old man. Magnetic resonance imaging demonstrated a predominantly fatty mass with irregularly thickened, linear, swirled, and nodular septa. Contrast-enhanced fat-suppressed T1-weighted images showed significant enhancement of the non-adipose areas. A sub-extensive resection was performed. Histologically, the tumor consisted predominantly of mature fat cells with atypical stromal cells and multivacuolated lipoblasts. Immunohistochemically, the tumor cells were positive for p16 (diffuse and strong signal) and cyclin-dependent kinase-4 (focal and weak signal) but negative for murine double-minute 2. Cytogenetic analysis displayed a t(3;8)(q28;q13) translocation as the sole anomaly or concomitant with a few other numerical and structural alterations. There has been no evidence of local recurrence two months after surgery. To the best of our knowledge, this is the first case of ALT with structural aberrations involving chromosomes 3 and 8, associated with an absence of 12q rearrangements. PMID:24922675
Nishio, Jun; Iwasaki, Hiroshi; Nabeshima, Kazuki; Kamachi, Yuki; Naito, Masatoshi
Lipomatous hemangiopericytomas (LHPCs) are rare soft-tissue tumors that are histologically characterized by hemangiopericytomatous vasculature and the presence of mature adipocytes. We present the clinicopathological features of a case of gastric LHPC in a 56-year-old female, along with a literature review. Endoscopy and endoscopic ultrasound showed a submucosal tumor 0.8 cm across in the greatest dimension in the lesser curvature side of the gastric antrum. Grossly, the well-defined mass had a solid and tan-white cut surface admixed with myxoid regions and yellowish areas. Histological examination revealed a submucosal well-circumscribed lesion composed of cellular nodules with the classic appearance of an hemangiopericytoma admixed with clusters and lobules of mature adipocytes. The ill-defined tumor cells had weakly eosinophilic cytoplasm and contained spindled nuclei with occasional small nucleoli. Nuclei atypia and mitoses were absent, and no cellular atypia, necrosis or vascular invasion was observed. Immunohistochemistry showed that the tumor cells were diffusely positive for CD34, CD99, and vimentin and were focally reactive for bcl-2. This is the first known report of an LHPC in the stomach. The patient was followed for 12 mo without any evidence of metastasis or recurrence.
Jing, Hong-Biao; Meng, Qing-Da; Tai, Yan-Hong
Bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero mimicking ambiguous genitalia: 2-D/3-D fetal ultrasonography.
Ambiguous genitalia (AG) is a morphological diagnosis defined as genitalia not typical of a male or female. Findings mimicking AG, such as penoscrotal anomalies, anorectal malformations, and perineal lipomatous tumors, may prevent accurate identification of the fetal sex. We report a case of bifid scrotum and anocutaneous fistula associated with a perineal lipomatous tumor complicated by temporary bilateral cryptorchidism in utero, which were findings mimicking AG. Several perineal anomalies are associated developmental occurrences. In the present case, the combination of bifid scrotum and temporary bilateral cryptorchidism in the male fetus mimicked the combination of clitoromegaly and prominent labia, which are commonly observed in female fetuses. However, serial systemic assessments using prenatal 2-D/3-D ultrasonography and magnetic resonance imaging were unable to detect the anocutaneous fistula and differentiate the perineal lipomatous tumor. This case report suggests that the prenatal detection of perineal abnormalities may warn obstetricians of potentially undetected congenital perineal anomalies. PMID:24738127
Inde, Yusuke; Terada, Yusuke; Ikegami, Ei; Sekiguchi, Atsuko; Nakai, Akihito; Takeshita, Toshiyuki
Dermatofibromas (DFs) are common benign fibrohistiocytic lesions, mostly affecting young adults. Many types of DF have been described, depending on architectural, cellular, and stromal peculiarities. Recently, a peculiar type of benign cutaneous tumor showing hemosiderotic DF-like stroma and apocrine glands has been described. We report 2 additional cases of DF without hemosiderotic changes showing entrapped apocrine glandular structures. We speculate about the origin of the glandular component and propose the term adenodermatofibroma for this type of lesions. PMID:23334518
Santos-Briz, Angel; Llamas-Velasco, Mar; Arango, Laura; Yuste, Manuela; Paredes, Bruno E; Kutzner, Heinz
Summary Background Lipomatous hypertrophy of the interatrial septum (LHIS) is a benign disorder characterized by fat accumulation in the interatrial septum (IAS). The purpose of the study was to analyze the incidental detection of LHIS in patients with various clinical conditions, referred to ECG-gated multislice computed tomography (ECG-MSCT) examinations of the heart. Material/Methods The ECG-MSCT examinations of 5786 patients (2839 women; 2947 men), were analyzed. The examinations were performed using 8-row (1015 patients) and 64-row (4771 patients) MSCT, in pre- and postcontrast scanning. We analyzed the shape of the IAS, density and maximal thickness of IAS, the thickness of the epicardial adipose tissue, and the degree of contact of IAS with the ascending aorta and superior vena cava. We also determined body mass index (BMI) in patients with LHIS. Results LHIS was detected in 56 (0.96%) patients, with an average age of 61.5±9.8 years. The mean BMI in the analyzed group was 30.1±4.86. During the end-diastolic phase the thickness of IAS was significantly higher (p<0.0001), and on average equaled 18.3mm. The mean optical density of the IAS was conspicuously higher (p<0.0001) in post-contrast phase than in pre-contrast phase. The thickness of the epicardial adipose tissue in the region of the left atrioventricular groove was on average 15 mm. In all cases the dumbbell shape of IAS was observed. Conclusions The incidental frequency of LHIS occurrence in patients diagnosed with the ECG-MSCT examinations is about 1%. In most subjects it is linked with a higher BMI and increased thickness of the epicardial adipose tissue.
Czekajska-Chehab, Elzbieta; Tomaszewska, Monika; Olchowik, Grazyna; Tomaszewski, Marek; Adamczyk, Piotr; Drop, Andrzej
Soft tissue tumors commonly show cytogenetic abnormalities, some of which are tumor specific. Lipomatous tumors represent the largest category of soft tissue neoplasms, and numerous karyotypic aberrations have been identified. However, clear-cut correlation between morphology and karyotype has not been undertaken on a systematic basis in a double-blind setting. The morphological features and histological diagnosis of 178 lipomatous neoplasms were reviewed independently without knowledge of the clinical data. The consensus diagnoses were then correlated with the clinical findings and compared with the tumors' karyotypes, using G-banded preparations from short-term cultures. The data were collated by a multicenter collaborative group of pathologists, geneticists, and surgeons. Clonal chromosomal abnormalities were identified in 149 cases studied (84%) and, to a large extent, the karyotype correlated with the morphological diagnosis. Specifically, 26 (96%) of 27 myxoid liposarcomas and its poorly differentiated variants showed a t(12;16); 29 (78%) of 37 atypical lipomatous tumors (including 5 dedifferentiated cases) showed ring chromosomes; 74 (80%) of 93 subcutaneous and intramuscular lipomas had karyotypic aberrations affecting mainly 12q, 6p, and 13q; 7 of 8 spindle cell and pleomorphic lipomas had aberrations of 16q; 3 lipoblastomas showed 8q rearrangements; and 2 hibernomas showed 11q abnormalities. We conclude that cytogenetic abnormalities are common in lipomatous tumors, correlate reliably with morphological sub-type in many cases, and can be of diagnostic value in histologically borderline or difficult cases.
Fletcher, C. D.; Akerman, M.; Dal Cin, P.; de Wever, I.; Mandahl, N.; Mertens, F.; Mitelman, F.; Rosai, J.; Rydholm, A.; Sciot, R.; Tallini, G.; van den Berghe, H.; van de Ven, W.; Vanni, R.; Willen, H.
Prolapse of subconjunctival intraconal orbital fat is a rare cause of an intraorbital mass lesion. Over the past several years, we have seen a number of cases in which this prolapsed fat was confused pathologically with a neoplasm of adipocytic lineage, specifically pleomorphic lipoma and atypical lipomatous neoplasm (well-differentiated liposarcoma). We report the clinical, histopathologic, and immunohistochemical findings in 21 specimens from 17 patients, all of whom presented with prolapsed intraconal orbital fat. All specimens were routinely examined and processed for light microscopy. Immunohistochemistry for CD34, CD68, S100 protein, vimentin, alpha-smooth muscle actin, and Ki-67, and Giemsa, Masson trichrome, and alcian blue histochemical stains were performed. Clinical and follow-up information was extracted from a chart review. The mean age (+/-SD) of the patients was 65.6+/-11.9 years (range: 41 to 85 y); 2 were women and 15 were men. Subconjunctival prolapsed orbital fat was localized in the superotemporal quadrant or lateral canthus around the rectus muscle below the lacrimal gland. The lesions were unilateral in 10 and bilateral in 7 patients. No recurrence was clinically evident over a mean (+/-SD) follow-up time of 2.5+/-3.2 years (range: 1 mo to 13.5 y). Histopathologically, all specimens showed an admixture of mature fat, fibrous septae lacking hyperchromatic cells, adipocytes with intranuclear vacuoles (Lochkern cells), multinucleated giant cells with a wreathlike configuration of normochromatic nuclei (floret cells), and varying numbers of histiocytes, lymphocytes, plasma cells, and mast cells. "Control" sections of normal orbital fat showed occasional Lochkern cells but lacked floret cells. By immunohistochemistry, the floret cells expressed only CD34 and vimentin, whereas the Lochkern cells expressed CD34, S100 protein, and vimentin. We conclude that subconjunctival herniated orbital fat commonly contains multinucleated floretlike giant cells, fibrous septae, and Lochkern cells, features that may result in diagnostic confusion with pleomorphic lipoma and atypical lipomatous neoplasms. Importantly, specific diagnostic features, such as aggregates of bland spindled cells associated with wiry collagen, as seen in pleomorphic lipoma, and enlarged hyperchromatic cells within fibrous septae, as in atypical lipomatous neoplasms, are entirely absent in herniated orbital fat. Multinucleated floret cells present in prolapsed orbital fat likely represent a reactive phenomenon, as they are not present in normal orbital fat. PMID:17255763
Schmack, Ingo; Patel, Rajiv M; Folpe, Andrew L; Wojno, Ted; Zaldivar, Renzo A; Balzer, Bonnie; Kang, Shin J; Weiss, Sharon W; Grossniklaus, Hans E
The current study presents the first case of a lipomatous hemangiopericytoma (LHPC) developing in the parotid gland in a 33-year-old male. The patient presented with a 4-year history of a progressively growing painless and fixed mass in the left paratid gland region. The patient underwent radical parotidectomy and was followed-up for 12 months without any evidence of metastasis or recurrence. LHPC, a controversial rare HPC variant, is histologically characterized by a varying admixture of hemangiopericytomatous vasculature and the presence of mature adipocytes. To date, 51 cases of LHPC have been documented in the literature. Although the boundary between HPC and solitary fibrous tumors (SFTs) has become increasingly blurred, neither of these variant growth patterns has previously been recognized in the parotid gland.
CHEN, DAN; XUAN, JIZE; SUN, MEIYU; GUAN, HONGWEI
Lipomatous neoplasms of the salivary glands are rare. Their wide histologic spectrum has not been sufficiently studied. We collected 31 fat-containing salivary gland lesions excluding pleomorphic adenoma and myoepithelioma with lipometaplasia. There were 19 male and 12 female patients aged 7 to 89 years (mean, 53 y). Tumors originated in the parotid (n=29) and the submandibular (n=2) gland. On the basis of the proportion and distribution of adipose tissue and the epithelial type, tumors could be categorized into 3 main groups: ordinary lipoma (n=20) identical to soft tissue lipoma but located within the salivary gland, oncocytic lipoadenoma (n=6) composed predominantly of oncocytes with variable fatty component, nononcocytic sialolipoma (n=4) composed of lobular fatty tissue (?70%) with evenly distributed normal salivary tissue recapitulating the composition of normal salivary glands and microcystic lipoadenoma (n=1) composed of cystic ducts admixed with adipose tissue. The mean tumor size was 3.3, 3.8, and 2.9 cm for lipoma, oncocytic lipoadenoma, and nononcocytic sialolipoma, respectively. Associated diseases included Madelung disease with bilateral atypical lipomatous tumors of the neck and bilateral parotid lipoma (1), oncocytic lipoadenoma after irradiation for sinonasal adenocarcinoma (1), and periparotideal lipoma excised years before oncocytic lipoadenoma (1) and nononcocytic sialolipoma (1). No recurrence was recorded at a mean follow-up of 72 months (range, 6 to 184 mo). Sebaceous islands were seen in 5/6 oncocytic lipoadenomas and in 2/4 sialolipomas. Periductal inflammation/fibrosis was common in sialolipoma and oncocytic lipoadenoma. This study demonstrates the wide morphologic spectrum of fatty salivary gland lesions. Oncocytic lipoadenoma is an epithelial-predominant tumor that is distinct from the fat-dominated nononcocytic sialolipoma, but the 2 types seem to merge in some cases. PMID:23232852
Agaimy, Abbas; Ihrler, Stephan; Märkl, Bruno; Lell, Michael; Zenk, Johannes; Hartmann, Arndt; Michal, Michal; Skalova, Alena
OBJECTIVE: To retrospectively analyse the magnetic resonance (MR) findings of subcutaneous lipomatous soft-tissue tumours (SLSTT) in order to define a diagnostic and therapeutic strategy. METHODS: The MR findings of 46 SLSTT were registered for the following data: area, location within the subcutaneous compartment, dimensions, shape and delineation, signal intensity (SI) on different pulse sequences, signal homogeneity, degree and pattern of contrast enhancement. The MR findings, together with patients' age and gender, were compared with histopathological findings. RESULTS: Sixty-eight percent of the lipomas had a homogeneous T1-SI identical to the SI of subcutaneous fat. Heterogeneity in other lipomas was due to fat necrosis and small septa. Other lesions with homogeneous T1-SI identical to the SI of subcutaneous fat included lipoblastoma, lipomatosis and lipoma-like hibernoma. None of the liposarcomas were homogeneous and isointense to SI of subcutaneous fat on T1-weighted imaging (WI). Lipoma variants and liposarcomas showed overlapping MR characteristics. CONCLUSIONS: SLSTT with homogeneous T1-SI identical to the SI of subcutaneous fat are benign. If a SLSTT has other MR characteristics, differentiation based on MRI cannot be made and biopsy is needed. We used this finding in defining a diagnostic and therapeutic strategy for subcutaneous soft tissue tumours that are hyperintense on T1-WI. PMID:22347979
Toirkens, Johannes; De Schepper, Arthur M; Vanhoenacker, Filip; Van Dyck, Pieter; Gielen, Jan; Creytens, David; Wouters, Kristien; Eiber, Matthias; Wörtler, Klaus; Parizel, Paul M
The dinicopathologic, immunohistochemical and ultrastructural features of 13 lipomatous hemangiopericytomas are presented. There were 6 male and 7 female patients whose ages at diagnosis ranged from 27 to 75 years (median 48) all presenting with a mass of variable duration. The tumor sizes ranged from 1.7 cm to 19 cm (median 5.5 cm). The locations included the orbit (1), neck (1), mediastinum (1), epicardium (1), retroperitoneum (3), right iliac fossa (1), and upper (1) and lower (4) extremity. Histologically, the lesions were composed of a varying admixture of spindle-shaped to round cells, variably collagenous stroma, adipose tissue, and branched, often thick-walled, hemangiopericytoma-like vessels. For 11 tumors, the mitotic activity ranged from 1 to 3 mitoses per 10 high-power fields (HPF). One tumor which contained hypercellular areas showed 13 mitoses per 10 HPF, and another hypercellular lesion showed up to 43 mitoses per 10 HPF, abnormal mitoses, and necrosis. Immunohistochemically, tumor cells were invariably positive for vimentin and CD99, and mostly for CD34 but negative for desmin, keratin, CD31, CD117 (c-kit), and inhibin. About half of the tumors showed reactivity for bcl-2. Occasionally, focal reactivity was also observed for smooth muscle actin, muscle-specific actin, S100 protein, and epithelial membrane antigen. Ultrastructural examination of seven cases showed features in keeping with fibroblastic, myofibroblastic, or pericytic differentiation. Treatment consisted of simple tumorectomy in 10 cases and wide excision in 3. Follow-up information on 10 patients (range: 6 to 77 months; median: 18 months) showed no recurrence. Lipomatous hemangiopericytoma which share the clinical, pathologic, immunohistochemical, and ultrastructural features of solitary fibrous tumor (SFT) is likely to represent, in most cases, a fat-containing variant of SFT. PMID:11014579
Guillou, L; Gebhard, S; Coindre, J M
The authors report on a case of a 65-year-old man with pigmented clear-cell acanthoma located on the right thigh. Dermoscopy disclosed a peculiar picture consisting of diffuse black pigmentation with a superficial greyish veil in the central portion, dotted-to-globular dark red-black structures mainly located at the periphery with a homogenous regular reticular arrangement; peripheral translucid desquamation. Dermoscopic features are correlated with the histology, where hemosiderin deposits present in a sheet-like arrangement in the perivascular papillary dermis and in a band-like disposition in the reticular dermis at the base of the lesion can account for the pigmented picture. The lesion arose on a trauma-prone skin site; thus the authors believe that traumatic irritation may be responsible for the clinical and dermoscopic pictures, giving rise to a reaction similar in a way to the Auspitz's sign provocated by trauma for psoriasis. Red blood cells extravasation from extremely superficialized capillaries may have led to hemosiderin deposition in the papillary and the reticular dermis. PMID:21965855
Bugatti, Leonardo; Filosa, Giorgio
The authors report on a case of a 65-year-old man with pigmented clear-cell acanthoma located on the right thigh. Dermoscopy disclosed a peculiar picture consisting of diffuse black pigmentation with a superficial greyish veil in the central portion, dotted-to-globular dark red-black structures mainly located at the periphery with a homogenous regular reticular arrangement; peripheral translucid desquamation. Dermoscopic features are correlated with the histology, where hemosiderin deposits present in a sheet-like arrangement in the perivascular papillary dermis and in a band-like disposition in the reticular dermis at the base of the lesion can account for the pigmented picture. The lesion arose on a trauma-prone skin site; thus the authors believe that traumatic irritation may be responsible for the clinical and dermoscopic pictures, giving rise to a reaction similar in a way to the Auspitz's sign provocated by trauma for psoriasis. Red blood cells extravasation from extremely superficialized capillaries may have led to hemosiderin deposition in the papillary and the reticular dermis.
Bugatti, Leonardo; Filosa, Giorgio
Background: Hibernoma is a rare benign fat-forming soft tissue tumor that differentiates similar to brown fat, hence an origin from remnants of fetal brown adipose tissue has been proposed. Mainly young adults are affected, usually without significant clinical symptoms. Material and methods: We report on four patients with hibernomas, who were treated at our hospital during the last 10 years. The clinicopathologic and immunohistochemical features are presented and treatment and follow-up data discussed. Results: Patients were 2 women and 2 men aged 21-67 years (mean: 45 yrs) who presented with a slowly growing, painless mass. The anatomic location was the thigh, upper arm, lateral thoracic wall and paravertebral soft tissue. Two of them were diagnosed preoperatively through a percutaneous core needle biopsy and the other two underwent surgery because of high clinical and radiological suspicion of liposarcoma. The tumor’s size ranged from 7 cm to 15.5 cm (mean: 11 cm). All were deep-seated subfascial intramuscular masses. Histologically, all four tumors were of the typical variant. All patients underwent a R0-surgical resection of the tumor and they were recurrence-free at last follow-up (mean: 47 months; range: 25-87). Conclusion: Hibernoma may present as huge deep intramuscular soft tissue mass in adults, closely mimicking well differentiated liposarcoma and should be considered in the differential diagnosis of fatty soft tissue tumors in any location. Surgical excision is the treatment of choice. The tumor has no malignant or recurrence potential.
Vassos, Nikolaos; Lell, Michael; Hohenberger, Werner; Croner, Roland S; Agaimy, Abbas
The purpose of this study was to determine the clinicopathological and immunohistochemical features of lipoma/fibrolipoma with rare occasions as osseous and/or chondroid differentiation in the oral cavity. Two cases of the tumors, who presented with a painless, relatively hard mass on the oral mucosa, were studied. These were consisted of a well-circumscribed mass of fatty tissue with chondroid and significant fibrous component intermixed with the lobules of fat cells with chondroid and woven bone component, respectively. Immunohistochemical study revealed that peripheral spindle cells around chondroid tissue stained diffusely for S-100 alpha & beta and Sox-9, though peripheral spindle cells around osteoid tissue only stained for RUNX-2. According to review of the literature, lipoma/fibrolipoma with osseous and/or chondroid differentiation was 18 cases. Also fibrolipoma with osseous and chondroid differentiation is the first to be reported here. These results indicated that the cartilage/bone is produced by differentiation of undifferentiated mesenchymal cells of stroma. PMID:20309407
Kuyama, Kayo; Fifita, Sisilia Fusi; Komiya, Masamichi; Sun, Yan; Akimoto, Yoshiaki; Yamamoto, Hirotsugu
The purpose of this study was to determine the clinicopathological and immunohistochemical features of lipoma/fibrolipoma with rare occasions as osseous and/or chondroid differentiation in the oral cavity. Two cases of the tumors, who presented with a painless, relatively hard mass on the oral mucosa, were studied. These were consisted of a well-circumscribed mass of fatty tissue with chondroid and significant fibrous component intermixed with the lobules of fat cells with chondroid and woven bone component, respectively. Immunohistochemical study revealed that peripheral spindle cells around chondroid tissue stained diffusely for S-100 ? & ? and Sox-9, though peripheral spindle cells around osteoid tissue only stained for RUNX-2. According to review of the literature, lipoma/fibrolipoma with osseous and/or chondroid differentiation was 18 cases. Also fibrolipoma with osseous and chondroid differentiation is the first to be reported here. These results indicated that the cartilage/bone is produced by differentiation of undifferentiated mesenchymal cells of stroma.
Kuyama, Kayo; Fifita, Sisilia Fusi; Komiya, Masamichi; Sun, Yan; Akimoto, Yoshiaki; Yamamoto, Hirotsugu
We report on two patients with an asymmetrical expansion of fat tissue. At computed tomography, lipomatous tissue proved to be superficially located in one patient and both subcutaneously and deeply located in the second. Signs and symptoms of a peripheral neuropathy were observed in both patients, who were otherwise asymptomatic. The lipolytic activity in post-heparin plasma was normal in both patients. The fat cell size of lipomatous tissue, obtained in one patient by percutaneous needle biopsy, was higher than that of contralateral, uninvolved adipose tissue. The adipose tissue lipoprotein lipase activity in lipomatous tissue was higher than that in normal tissue. High density lipoprotein (HDL), HDL2 and HDL3 cholesterol values were elevated in both patients but not exceeding 1 standard deviation the values of age and sex matched controls. Isoprenaline-stimulated lipid mobilization was similar in lipomatous and in control tissue. Images Figure 1 Figure 2 Figure 3 Figure 4
Enzi, G.; Digito, M.; Baldo Enzi, G.; Perin, B.; Fiore, D.
Dermatofibroma is a benign fibrohistiocytic tumor, common and easily diagnosed when classical clinicopathologic features are present. The atrophic variant of dermatofibroma is of uncertain origin. This lesion is characterized clinically by a flat or atrophic and depressible surface. Histopathological features show reduction of the thickness of the dermis and elastic fibers. We report a typical case of this uncommon and probably underdiagnosed variant.
Mota, Amanda Nascimento C. de Macedo; Tortelly, Violeta Duarte; Obadia, Daniel Lago; da Silva, Roberto Souto
The diagnosis of a soft tissue mass in children is a common clinical situation. Most of the lesions are benign and can be\\u000a treated conservatively or by non-mutilating surgery. Nevertheless, the possibility of a malignant soft tissue tumor must be\\u000a systematically considered. The most frequent benign soft tissue lesions in children are vascular lesions, fibrous and fibrohistiocytic\\u000a tumors and pseudotumors,
Hervé Brisse; Daniel Orbach; Jerzy Klijanienko; Paul Fréneaux; Sylvia Neuenschwander
Benign fibrous histiocytoma (BFH) is a benign fibrohistiocytic neoplasm. It is documented to occur in all anatomic sites with a strong predilection for sun exposed skin surfaces. Intra oral occurrence of BFH comprises a lesser percentage of cases with tongue being the least reported site. We report a case of BFH of the tongue with an emphasis on its histogenesis and a review of the literature. PMID:24355969
Priya, N S; Rao, Kavita; Umadevi, H S; Smitha, T
Purpose of review In immunodeficiency, an increased sarcoma risk is confirmed for Kaposi’s sarcoma. Whether rates of other sarcoma subtypes are elevated in the setting of immunodeficiency is not known. We therefore reviewed published case reports on HIV/AIDS patients and organ transplant recipients with sarcomas. For comparison, we assessed sarcomas in the U.S. general population using Surveillance Epidemiology End Results (SEER) data. Findings One hundred seventy-six non-KS sarcomas were identified, 75 in people with HIV/AIDS and 101 in transplant recipients. Leiomyosarcomas (n=101) were the most frequently reported sarcomas, followed by angiosarcomas (n=23) and fibrohistiocytic tumors (n=17). Leiomyosarcomas were reported with two age peaks, in children and young adults. Epstein-Barr virus (EBV) was detected in the tumor cells in 85% and 88% of leiomyosarcomas in HIV-infected people and transplant recipients, respectively. Angiosaromas and fibrohistiocytic tumors were most frequently reported in males. Among kidney transplant recipients, 20% of sarcomas arose at the site of an arteriovenous fistula. In comparison, leiomyoscarcomas, angiosarcomas, and fibrohistiocytic tumors comprised 16.9%, 3.8%, and 18.7% of sarcomas in the U.S. general population. Summary Leiomyosarcoma and angiosarcoma may occur disproportionately in immunodeficiency. Leiomyosarcomas appear etiologically linked to EBV while angiosarcomas might be correlated with an arteriovenous fistula. Additional studies are necessary to understand the contribution of immunodeficiency to the etiology of these sarcomas.
Bhatia, Kishor; Shiels, Meredith. S.; Berg, Alexandra; Engels, Eric. A.
Neocentromeres are rare epigenetic phenomena in which functional centromeres are formed onto novel chromosomal locations without any ?-satellite DNA. To date, constitutional human neocentromeres have been reported in at least 90 cases. In cancer, however, the knowledge is much more limited. Acquired neocentromeres have been described in a particular class of lipomatous tumors (atypical lipomas and well-differentiated liposarcomas; ALP-WDLPS), three
Eric Blom; Fenna H. Heyning; Wilma G. M. Kroes
Angiolipoma is a rare vascular variant of the benign lipomatous tumors and is generally seen in subcutaneous tissues. We report a 70-year-old female with abdominal distension not related to rectal small polypoid mass with peduncule described as angiolipoma by histologically, and review the literature.
Sabite Kacar; Sedef Kuran; Tulay Temucin; Bulent Odemis; Nilufer Karadeniz; Nurgul Sasmaz
A 50-year-old man presented with a middle and posterior mediastinal mass on chest radiograph and computed tomography. Surgical exploration revealed a large dumbbell-shaped lipomatous lesion. Histologic examination confirmed this to be a fibrolipoma. This is the first reported case of fibrolipoma in the mediastinum but outside of the esophagus. PMID:16181831
Hsu, Jui-Sheng; Kang, Wan-Yi; Liu, Gin-Chung; Kao, Eing-Long; Chuang, Ming-Tsung; Chou, Shah-Hwa
Retroperitoneal tumors of lipomatous origin are usually liposarcomas. Only a minority of adipose tumors of the retroperitoneum show histological criteria of benignity. We present the case of a 52-year-old woman, diagnosed of a retroperitoneal lipoma with areas of myxoid degeneration. The tumor involved the left kidney and was resected completely. PMID:1493064
Díaz de Liaño, A; Soriano, P; Monzón, F J; Merck, N; Ochoa, L
Superficial Acral Fibromyxoma is a rare tumor of soft tissues. It is a relatively new entity described in 2001 by Fetsch et al. It probably represents a fibrohistiocytic tumor with less than 170 described cases. We bring a new case of SAF on the 5th toe of the right foot, in a 43-year-old woman. After surgical excision with safety margins which included the nail apparatus, it has not recurred (22 months of follow up). We carried out a review of the location of all SAF published up to the present day.
Garcia, Ana Marquez; Mendonca, Francisco Manuel Ildefonso; Cejudo, Manuel Perea; Martinez, Francisco M. Camacho; Martin, Juan Jose Rios
Dermatofibrosarcoma protuberans is a fibrohistiocytic tumor of intermediate malignancy with aggressive localized growth, high recurrence rate, but low metastatic potential. It appears as a hardened plaque, with slow growth, upon which the development of nodules occurs. It predominates in the trunk and is unusual in acral locations. Histopathology reveals spindle cells with storiform pattern and cartwheel-like or whirlwind-like aspect. Immunohistochemistry shows positivity for CD34. The treatment is surgical. We report a case of long evolution, with an unusual location, that relapsed after surgery, to emphasize the importance of early diagnosis and proper treatment, avoiding aggressive resections with increased morbidity. PMID:24770523
Franco, Joanna Pimenta de Araujo; Barbosa, Caroline Cruz; Fonseca, Bárbara Ferreira Saraiva da; Lima, Ricardo Barbosa; D'Acri, Antônio Macedo; Martins, Carlos José
Dermatofibrosarcoma protuberans is a fibrohistiocytic tumor of intermediate malignancy with aggressive localized growth, high recurrence rate, but low metastatic potential. It appears as a hardened plaque, with slow growth, upon which the development of nodules occurs. It predominates in the trunk and is unusual in acral locations. Histopathology reveals spindle cells with storiform pattern and cartwheel-like or whirlwind-like aspect. Immunohistochemistry shows positivity for CD34. The treatment is surgical. We report a case of long evolution, with an unusual location, that relapsed after surgery, to emphasize the importance of early diagnosis and proper treatment, avoiding aggressive resections with increased morbidity.
Franco, Joanna Pimenta de Araujo; Barbosa, Caroline Cruz; da Fonseca, Barbara Ferreira Saraiva; Lima, Ricardo Barbosa; D'Acri, Antonio Macedo; Martins, Carlos Jose
Hobnail hemangioma (targetoid hemosiderotic hemangioma) is a vascular tumor affecting the limbs or trunk. Characteristically, the lesion has a "targetoid" clinical feature and dilated vascular spaces lined by hobnail endothelial cells at histologic examination. The age of onset is widely variable, form 5~67 years, typically occurring in young or middle-aged persons. It is usually apparent as a small solitary lesion. However, multiple lesions are identified sometimes. Herein, we report two cases of hobnail hemangioma in 7-year-old and 15-year-old males. Of note, the former case had a congenital lesion and the latter, multiple acquired lesions, which are both rare atypical presentations of the disease. PMID:22148030
Yoon, So Young; Kwon, Hyuck Hoon; Jeon, Hye Chan; Lee, Jong Hee; Cho, Soyun
Lipomatous tumors of the uterus are unusual, benign neoplasms seen in postmenopausal women. Although many of the mixed-type cases such as lipoleiomyoma and fibrolipoma have been reported, pure uterine lipomas are extremely rare. In the literature, a few cases with pure uterine lipoma have been reported. We first present the advanced magnetic resonance findings of pure uterine lipoma, followed by those of ultrasonography (US) and computed tomography (CT). We markedly detected lipid peaks on the magnetic resonance spectroscopy (MRS) and the apparent diffusion coefficient value to be 0.00 due to chemical-shift effects with diffusion-weighted imaging (DWI). Although pelvic lipomatous tumors can be diagnosed with US and CT, in some cases, further workup may be required to localize the lesion. MRI may yield more valuable data for differential diagnosis. MRS and DWI findings provide additional clues on the nature of the lesion. PMID:17905250
Erdem, Gulnur; Celik, Onder; Karakas, Hakki Muammer; Alkan, Alpay; Hascalik, Seyma
Angiomyxolipoma, a lipoma variant with myxoid areas and vascular proliferation was originally described in 1996 and till date has only 12 cases in published literature. Only two cases have been reported in children involving buccal mucosa and knee, respectively. The authors report a case of angiomyxolipoma, on the plantar surface of the left foot, in a 4-year-old male child who presented to our institution in Abha city (Kingdom of Saudi Arabia). The significant differential diagnosis of this neoplasm from other similar lipomatous tumours occurring in adult and paediatric population is discussed. The importance of recognising these tumours lies in their recognition as separate entity and the present case may add to the knowledge, clinical behaviour and prognosis of these less reported lipomatous neoplasms.
Shraim, Mubarak Al; Hasan, Mahboob; Hawan, Ali; Radad, Khaled; Eid, Refaat
Oncocytic lipoadenoma is a rare salivary gland tumour composed of adipose tissue and oncocytic epithelial cells in varied proportions. This tumour is still not included in the current WHO classification of salivary gland neoplasms. We herein report a further case of oncocytic lipoadenoma originating in the parotid gland of a 55-year-old woman. The tumour presented as a slowly growing asymptomatic left-sided parotid gland mass. The resected tumour measured 2.7 cm in maximum diameter and was composed of oncocytoma-like epithelial component admixed with mature adipocytes that made up 10% of the whole mass. Foci of sebaceous differentiation were seen. This rare variant of lipomatous salivary gland tumours is in need of more recognition and should be distinguished from other fat-containing salivary gland lesions, particularly lipomatous pleomorphic adenoma and myoepithelioma.
Mitsimponas, Konstantinos T; Agaimy, Abbas; Schlittenbauer, Tilo; Nkenke, Emeka; Neukam, Friedrich-Wilhelm
A 50-year-old female presented with more than 20-year history of a large subcutaneous mass in the left parieto-occipital portion. Magnetic resonance (MR) imaging revealed the lipomatous mass to show a high signal intensity in both T1- and T2-weighted images. A part of the lipomatous lesion progressed into the underlying hyperostosis and skull. The preoperative diagnosis was skull invasion of a well-differentiated liposarcoma. The tumor was removed completely, including the underlying hyperostosis and skull. Microscopy confirmed a lipoma without any lipoblasts, which was firmly attached to the reactive hyperostosis, and islands of lipoma were involved in the underlying hyperostosis and skull cortex. A pathological diagnosis of parosteal lipoma with reactive hyperostosis was made. Long-term progression of parosteal lipoma may cause to involve the underlying hyperostosis and skull, and led to the diagnosis of invasion of a malignant tumor on MR imaging. PMID:24162239
Murakami, Mamoru; Hirai, Makoto; Sakakibara, Takehiko; Yamaki, Tarumi; Kusuzaki, Katuyuki
The effectiveness of Tc-99m bleomycin (BLM) and Tc(V)-99m DMSA are compared with that of Ga-67 citrate, which is currently the most widely used agent. In four patients with lipomatous tumors, the clinical significance of tumor imaging with each of these three agents is discussed and compared. Results indicate that both Tc-99m BLM and Tc(V)-99m DMSA are superior in detecting the extension or localization of liposarcomas.
Ohta, H.; Shane, F.I.; Endo, K.; Torizuka, K.; Horiuchi, K.; Yokoyama, A.; Ishii, M.
\\u000a Lipofibromatous hamartoma of nerve (LFHN) is a very uncommon benign lipomatous tumor with specific clinicopathological characteristics which may present with\\u000a or without macrodactyly. This tumor-like lesion is composed of fibrous and fatty tissues arising from the epi- and perineurium\\u000a that surrounds and infiltrates the major nerves and their branches in the body (Enzinger and Weiss 1994). It is believed to
Carola Duràn-Mckinster; Luz Orozco-Covarrubias; Marimar Saez-De-Ocariz; Ramòn Ruiz-Maldonado
We present a case of neural fibrolipoma arising from the digital nerve in the index finger of the right hand. A 31-year-old man was referred with a soft tissue mass in the ulnar aspect of the index finger of his right hand, which had gradually enlarged during the past seven years. Histological examination of an excisional biopsy specimen identified a neural fibrolipoma, which is a differential diagnosis of a lipomatous lesion of the digits. PMID:20158413
Avci, Gülden; Akan, Mithat; Taylan, Gaye; Akoz, Tayfun
MDCT angiography has enabled visualization of left atrium in addition to coronary arteries. CT images can be utilized to demonstrate normal anatomy and pathologies. Left atrium variations and pathologies include atrial septal pouch, patent foramen ovale, atrial septal defect, atrial band, lipomatous hypertrophy, cor triatriatum, diverticulum, accessory appendages, atrial thrombus and masses. Left atrium should be carefully evaluated in patients undergoing coronary CT angiography. MDCT is becoming an alternative modality for the evaluation of left atrium. PMID:21123014
Balli, Omur; Aytemir, Kudret; Karcaaltincaba, Musturay
“Soft tissue giant cell tumour of low malignant potential” is considered as the soft tissue counterpart of osteoclastoma of the bone. It is a primary soft tissue tumour which is classified under the category of fibrohistiocytic tumours of intermediate malignancy.Seventy percent of the tumours involve the extremities and only about seven percent of them arise in head and neck region. They are composed of nodules of histiocytes in a vascular stroma, with multinucleated osteoclast-like giant cells positive for vimentin, smooth muscle actin (SMA), CD68 and Tarterate Resistant Acid Phosphatase (TRAP). We are presenting a case of a 75-year-old man who had a nodule on the ala of the nose. Histopathology showed a histiocytic lesion. Benign fibrous histiocytoma, plexiform fibrohistiocytic tumour, solitary reticulohistiocytoma and histioid leprosy were ruled out by using special stains and immunostains. Expression of smooth muscle actin and CD68 confirmed the diagnosis of a soft tissue giant cell tumour with a low malignant potential.
Bhat, Amoolya; V., Geethamani; C., Vijaya
Fat-containing tumors of the salivary glands are uncommon. Their wide histological spectrum varies from pure lipomatous neoplasms similar to their cutaneous and soft tissue counterparts to mixed lipoepithelial lesions specific to the salivary glands. With few exceptions, these uncommon lesions affect mainly the elderly, with a mean age at presentation of ? 50 years and show a predilection for males. A few cases occur in childhood; some of them represent congenital lesions. In decreasing order of frequency, ordinary (soft-tissue type) lipoma, oncocytic lipoadenoma, non-oncocytic sialolipoma, and pleomorphic adenoma/myoepithelioma with extensive lipometaplasia are the main variants of fat containing tumors encountered in the salivary glands. While pleomorphic adenoma/myoepithelioma with lipometaplasia behave in the same way as their non-fat-containing counterparts, other lipomatous salivary gland tumors listed above are cured with simple excision and do not carry a risk of recurrence. Other lipoma variants (spindle cell lipoma, osteolipoma, fibrolipoma, angiolipoma, pleomorphic lipoma, lipoblastoma and hibernoma) are exceptionally rare in the salivary gland. Atypical lipomatous tumors/liposarcoma have been only rarely reported in the salivary gland and they behave in a similar fashion to their soft-tissue counterparts. Diffuse lipomatosis and lobular fatty atrophy are the two tumor-like lesions that might closely mimic sialolipoma, particularly in limited biopsy material without knowledge of the gross findings. This review summarizes the clinicopathological features of the main types of salivary fat-containing lesions and discusses their differential diagnoses. PMID:23821211
INTRODUCTION Myolipoma of soft tissue is an extremely rare benign lipomatous lesion. The lesions are most commonly located in the abdominal cavity, retroperitoneum, and inguinal areas. Despite their large size, myolipomas are cured by surgical resection. PRESENTATION OF CASE We present the case of a 79 year-old man who presented with bilateral reducible inguinal hernias (right larger than left). After reducing the right inguinal hernia (RIH), the sensation of a palpable mass was noted in the right iliac fossa. CT scan suggested the content of the right inguinal hernia (RIH) to be small bowel mesentery and no other mass was noted in the right iliac fossa (possibly missed on CT scan). DISCUSSION A very large 1.8 kg retroperitoneal lipomatous lesion, measuring 22 cm × 16 cm × 8 cm, attached to the right spermatic cord was found and excised laparoscopically during a trans-abdominal pre-peritoneal (TAPP) approach to repair the hernias. The lesion was pathologically defined as a myolipoma. CONCLUSION The laparoscopic TAPP approach to repair inguinal hernias allows the surgeon to inspect the peritoneal cavity, and in this case it was possible to safely dissect and remove a large, lipomatous, retroperitoneal lesion laparoscopically. To the best of our knowledge, there are no reports of local recurrence, metastatic disease, or malignant transformation of myolipomas, and the laparoscopic approach to resect such a lesion has not been reported.
Dan, Dilip; Bascombe, Nigel; Harnanan, Dave; Naraynsingh, Vijay
Giant cell angioblastoma is a very rare, locally destructive vascular tumor of intermediate malignancy without metastatic potential. There are only a few cases reported in the literature exclusively in the soft tissue of children. For the first time, we report on an adult patient with a giant cell angioblastoma in the popliteal fossa. The therapy included tumor resection with favorable clinical, oncological and functional outcome. Due to its locally destructive nature, surgery remains the mainstay of treatment. Histologically, giant cell angioblastoma is comprised of nodular aggregates of histiocytoid cells arranged around bland angiomatous spaces. Because of insufficient available data in regard to the definition of the entity, diagnostic criteria and its biological potential, it is not included in the new World Health Organization classification of tumors of soft tissue and bone. The differential diagnosis includes plexiform fibrohistiocytic tumor, myofibroma and giant cell fibroblastoma.
Crivelli-Ochsner, Susanna; Bode-Lesniewska, Beata; Nussbaumer-Ochsner, Yvonne; Fuchs, Bruno
Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options. PMID:22482741
Valdivielso-Ramos, M; Hernanz, J M
Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of intermediate malignancy that is very rare in childhood. Only 6% of these tumors present in children. Clinical diagnosis is very difficult in the early stages of disease, but to ensure appropriate treatment it is important to identify DFSP as early as possible and rule out benign conditions that are more common at this age. The clinical presentation and histopathologic and molecular characteristics of DFSP are similar in children and adults. Clinical diagnosis is, however, more difficult in children and requires a high degree of suspicion. The absence of characteristic features and the rarity of this tumor explain why diagnosis is often delayed. Complete surgical excision of the tumor is very important to reduce the risk of recurrence. This article presents a review of current knowledge about the management of DFSP in children and examines the latest treatment options. PMID:23154247
Valdivielso-Ramos, M; Hernanz, J M
Pigmented villonodular synovitis is a rare, benign, but potentially locally aggressive disease that should be considered in younger patients who present with monoarticular joint symptoms and pathology. We present the case of a 33-year-old woman with a mass arising from her right hip joint that was examined using a multimodal radiological approach. Because her clinical presentation mimicked that of synovial osteochondromatosis of the hip, surgical dislocation was performed. Histopathological examination of the resected specimen confirmed the diagnosis of localized pigmented villonodular synovitis, with the mass consisting of proliferation of fibrohistiocytic cells, abundant hemosiderin, foamy histiocytes, and occasional giant cells. Because of the presence of tumor necrosis, we hypothesize that torsion of the tumor pedicle was the cause of acute presentation.
Kaneuji, Ayumi; Kinoshita, Eriko; Numata, Yuhei; Nojima, Takayuki; Matsumoto, Tadami
Atypical fibroxanthoma (AFX) is an uncommon, low-grade, malignant, spindle-cell tumour of fibrohistiocytic histogenesis, which can mimic other malignant skin tumours, such as basal and squamous cell carcinoma (CC), melanoma, and Merkel cell carcinoma (MCC). Three cases of AFX were examined by dermatoscopy, which revealed white areas and an atypical polymorphous vascular pattern characterized by the concurrence of different structures: linear, dotted, hairpin, arborescent and highly tortuous vessels, irregularly distributed over the surface. Seborrhoeic elements and photoageing may be accompanying features depending on the anatomical location of the AFX. AFX may be added to the list of slightly pigmented, reddish, malignant cutaneous tumours, such as SCC, MCC, amelanotic/hypomelanotic melanoma and eccrine porocarcinoma, which display prominent and chaotic dermatoscopic neoangiogenetic features in more advanced stages of proliferation. PMID:20055861
Bugatti, L; Filosa, G
Epidermolytic hyperkeratosis is the distinctive histopathologic change that has been described as the main feature of bullous congenital ichthyosiform erythroderma and as an incidental finding in other cutaneous disorders. We retrospectively evaluated our cases of incidental epidermolytic hyperkeratosis over a 5-year period, and reviewed the conditions that have been associated with incidental epidermolytic hyperkeratosis. We identified 21 individuals (14 men and seven women), ranging in age from 3 to 87 years, in whom incidental epidermolytic hyperkeratosis was found. Lesions in which the pathologic changes of incidental epidermolytic hyperkeratosis have been reported include dermal fibrohistiocytic lesions, epithelial neoplasms, hereditary disorders, inflammatory conditions, and melanocytic neoplasms. The histogenesis of incidental epidermolytic hyperkeratosis remains to be determined. PMID:7695008
Mahaisavariya, P; Cohen, P R; Rapini, R P
The atypical lipomatous tumor (ALT)/well-differentiated liposarcoma (WDLS) and the de-differentiated liposarcoma (DDLS) represent the most common category of liposarcomas. ALT/WDLSs and DDLSs are often difficult to distinguish from other tumors with similar morphological characteristics. In this study, we investigated whether the detection of amplified or overexpressed murine double-minute 2 (MDM2) can be a useful diagnostic ancillary aid. We used fluorescent in situ hybridization (FISH) and immunohistochemistry (IHC) to detect MDM2 amplification and protein overexpression, respectively, in 49 WDLSs, 5 DDLSs, 23 myxoid liposarcomas, 25 benign lipomatous tumors, and 75 spindle and pleomorphic sarcomas. MDM2 amplification was detected in 48 of 49 WDLSs, 5 of 5 DDLSs, 2 of 9 malignant peripheral nerve sheath tumors, and 2 of 10 myxofibrosarcomas. We did not detect MDM2 amplification in any of the benign lipomatous tumors. FISH-mediated detection of MDM2 amplification was the most valuable diagnostic aid for ALT/WDLS, as determined by using the Fisher exact test to compare two different diagnoses of 19 biopsies. On the contrary, unequivocal nuclear overexpression of MDM2 was found in only 10 of 50 ALT/WDLSs. The sensitivity and specificity of MDM2 amplification in distinguishing a DDLS from spindle and pleomorphic sarcomas were 100% and 95%, respectively, while those of MDM2 overexpression were 100% and 87%, respectively. In conclusion, our results indicate that FISH-mediated detection of MDM2 amplification is the most useful adjunct in the diagnosis of both ALT/WDLS and DDLS. However, IHC-mediated detection of MDM2 protein is useful only for the diagnosis of DDLS.
Kimura, Hiroaki; Dobashi, Yoh; Nojima, Takayuki; Nakamura, Hiroyuki; Yamamoto, Norio; Tsuchiya, Hiroyuki; Ikeda, Hiroko; Sawada-Kitamura, Seiko; Oyama, Takeru; Ooi, Akishi
Lipoblastoma is a rapidly growing, benign neoplasm in children. Surgical excision is usually curative, with a recurrence rate of about 20%. Because the histology of lipoblastoma is heterogeneous and overlaps with other lipomatous tumors, some lipoblastoma cases have been difficult to diagnose. The detection of PLAG1 gene rearrangement is useful for the diagnosis of lipoblastoma. Three fusion partner genes are known in relation to PLAG1 in lipoblastoma HAS2 at 8q24.1, COL1A2 at 7q22, and RAD51L1 at 14q24. Herein, we describe another two novel fusion genes in lipoblastoma tumor specimens. We checked six tumors for the presence of two known fusion genes, HAS2-PLAG1 and COL1A2-PLAG1. Only HAS2-PLAG1 was found in one of the cases. Next, we attempted to identify potential PLAG1 fusion partners using 5'RACE. Sequence analysis revealed two novel fusion genes, COL3A1-PLAG1 in three cases and RAB2A-PLAG1 in one case, respectively. As a result of the translocations, the constitutively active promoter of the partner gene drives the ectopic expression of PLAG1. We also evaluated whether a high level of PLAG1 expression can be used to help differentiate lipomatous tumors. PLAG1 expression was evaluated by real-time PCR in five lipoblastoma tumor specimens. The expressions were 70-150 times higher in lipoblastomas than in human adipocytes. However, PLAG1 expression was low in one case of lipoma. These results demonstrate that PLAG1 overexpression is a potential marker of lipoblastoma. Our findings, in agreement with previous studies, show that lipoblastoma is a group of lipomatous tumors with PLAG1 rearrangement and overexpression. © 2014 Wiley Periodicals, Inc. PMID:24700772
Yoshida, Hideki; Miyachi, Mitsuru; Ouchi, Kazutaka; Kuwahara, Yasumichi; Tsuchiya, Kunihiko; Iehara, Tomoko; Konishi, Eiichi; Yanagisawa, Akio; Hosoi, Hajime
We herein report a rare case of giant intramuscular lipoma of the tongue. A 75-year-old Italian male presented at our department with a large tumor at the tip of the tongue that had been present for over 30 years. Clinical examination revealed a yellowish lesion, measuring 10 cm in maximum diameter, protruding from lingual surface. Histological examination showed an unencapsulated lipomatous tumor composed of mature adipocytes, uniform in size and shape, diffusely infiltrating striated muscle fibers of the tongue. The patient is well with no local recurrence after a 15-month follow-up period.
We present the case of a 54-year-old man with a brown-red nodule on the hand that had been present since early adulthood. Histology of the excisional biopsy revealed hyperplasia and proliferation of eccrine, apocrine, lipomatous, and vascular structures. These findings were most characteristic of the entity known as eccrine angiomatous hamartoma (EAH), an uncommon tumor that may present variable clinical and histological features. In addition, this particular case exhibited a prominent component of arterio-venous malformation that distinguishes it from other EAHs described in the literature and adds to the spectrum of histologic findings that can be seen with this entity.
Chien, Andy J.; Asgari, Maryam; Argenyi, Zsolt B.
Congenital lipomatous malformations of spinal cord constitute a diverse group of lesions and lipomyelocele is one of them. Here, we report a case of congenital lipomyelocele in a male child who presented at 7 years of age. Magnetic resonance imaging (MRI) revealed a lesion in lumbosacral region. The patient was operated and histologic examination diagnosed the case to be lipomyelocele. But after 8 years, recurrence of the lesion occurred and MRI revealed the lesion at the same location. This time histologic examination detected another new component (schwannomatous areas) in the lesion. The child was on 1-year follow-up which was uneventful.
Mondal, Santosh Kumar
Congenital enlargement of one or several digits of the hands or feet (macrodactyly) is a rare disorder. A considerable proportion of the patients with this condition are referred to dermatology departments. The majority of the cases reported in the literature represent hamartomas with combined hypertrophy of several, predominantly lipomatous, soft tissue components and overgrowth of bone. The differential diagnosis includes Klippel-Trenaunay-Weber syndrome, neurofibromatosis, Milroy disease, and Proteus syndrome. We describe eight cases of congenital macrodactyly, discuss the findings, and propose a simple clinicopathologic terminology. PMID:10990574
Krengel, S; Fustes-Morales, A; Carrasco, D; Vázquez, M; Durán-McKinster, C; Ruiz-Maldonado, R
Paratesticular tumors are extremely rare, with paratesticular rhabdomyosarcoma being the most common finding. A 6-month-old boy presented with an asymptomatic, right intrascrotal mass whereby the testicle was surrounded by a friable lipomatous tumor. Frozen section revealed an inflammatory process, negative for malignancy. Tumorectomy with vaginal resection was performed, maintaining the testicle and excretory ducts. Histopathologic findings showed a juvenile xanthogranuloma, a non-Langerhans histiocytosis commonly described in infants in the skin and skeletal muscle. The patient is doing well 2 years after surgery and is the first such case reported in the literature with successful conservative treatment. PMID:18538690
Ruiz, Eduardo; Pozo, Patricio; Toselli, Luzia; Fernández, María; Christiansen, Silvia; Lambertini, Roberto
Congenital infiltrating lipomatosis of the face (CIL-F) is a rare lipomatous lesion with diffuse fatty infiltration of tissues and hyperplasia of underlying bone. We report clinical and CT findings in an unusual case of CIL-F presenting with progressive hemifacial asymmetry, manifesting as severely restricted mouth opening owing to exophytic temporomandibular joint ankylosis. The role of imaging in diagnosis is presented with a review of the literature. Differential diagnosis of CIL-F and its exclusion as a cause of hemifacial hyperplasia are also discussed.
Sahai, S; Rajan, S; Singh, N; Arora, H
Objective The objective was to evaluate ultrasound and MRI in clinical appendicular and truncal fat necrosis.\\u000a \\u000a \\u000a \\u000a Materials and methods Thirty-three patients (14 men, 19 women, median age 55, range 29–95) were retrospectively evaluated. Histologically, three\\u000a groups were seen: Group 1 (n?=?18) consisted of patients with subcutaneous masses with septal and extrinsic oedema; in Group 2 (n?=?11) necrosis occurred within lipomatous tumours and
Philip Robinson; Joanna M. Farrant; Grainne Bourke; William Merchant; Scott McKie; Kieran J. Horgan
Despite their benign character, intrapericardial lipomas can cause life-threatening complications by rapid growth. This paper presents a case of an intrapericardial lipoma in an almost asymptomatic 41-year-old female patient only suffering from mild dyspnoea on exertion. The tumour was found incidentally by chest X-ray. Echocardiographic examination and a CT scan of the thorax revealed a 16 × 14 × 12?cm lipomatous tumour mass highly suspective of a lipoma. Histological examination of excised tumour specimens confirmed the diagnosis of a lipoma. The patient is currently asymptomatic and has not presented with evidence of recurrence at the 6-month followup.
Steger, C. M.
A fibrolipomatous hamartoma—also known as a fibrofatty overgrowth, perineural lipoma, intraneural lipoma, and lipomatous hamartoma—is a rare, benign, congenital lesion most commonly found in the median nerve, usually at the level of the wrist or hand. To our knowledge, no published cases report a hamartoma arising from the median nerve at the level of the elbow. We report a case of a fibrolipomatous hamartoma in a 55-year-old woman that necessitated a surgical intervention because of its size and associated neurologic symptoms.
Ha, Jennifer Fong; Teh, Bing Mei; Abeysuriya, Disna Thushangi Dahanayake; Luo, Daniel Y. W.
Hibernoma is an uncommon, benign soft tissue tumor that arises in brown adipose tissue. The computed tomography (CT) and magnetic resonance imaging (MRI) findings of hibernomas are similar to those of well-differentiated liposarcoma or angiolipoma. We report the unique appearance of a rare thoracic wall hibernoma, which appeared as a dumbbell-shaped lipomatous tumor across an intercostal region. A dynamic contrast-enhanced study on MRI revealed early enhancement, which corresponded to the branching low-signal intensity on T2-weighted images of the mass. PMID:19373530
Kumazoe, Hiroyuki; Nagamatsu, Yoshinori; Nishi, Tatsuya; Kimura, Yusuke Norman; Nakazono, Takahiko; Kudo, Sho
Lipoma arborescens (LA) in the knee is a benign intra-articular lipomatous proliferation of the synovial membrane, and data on treatment of LA by radionuclide therapy is sparse. We present a rare case of bilateral LA in the knees successfully treated with injection of Y-citrate colloid. We assessed the biodistribution of the radiopharmaceutical through the use of SPECT/CT imaging. Our images show slight redistribution of the radiocolloid in the knee joint, whereas most of the radioactivity remains localized around the LA. MRI scans confirmed the efficacy of this treatment, with a significant reduction in LA volume after 6 months. PMID:24321826
O'Doherty, Jim; Clauss, Ralf; Scuffham, James; Khan, Aman
Mammary myofibroblastoma (MFB) is a rare benign spindle neoplasm that affects both sexes with a male predominance. It can exhibit a wide range of histological patterns. We report a case of epithelioid/spindle MFB of the female breast with admixed, but distinct, foci of spindle cell lipoma. Whilst all the spindle cells within the tumour expressed CD34, AR, ER, BCL2, and CD10, only those within the myofibroblastoma expressed desmin and only those within the lipomatous areas expressed S100. This finding, to our knowledge, is a novel one that has not been reported before.
Ibrahim, Hazem A. H.
Liponeurocytoma (lipomatous medulloblastoma) is a rarely and recently described tumor. We report an additional case of this uncommon lesion in an adult and we describe its clinical, radiological and histological features. A 45-year-old woman presented with symptoms and signs of increased intracranial pressure and cerebellar dysfunction. Computed tomography (CT) and magnetic resonance imaging (MRI) scans showed a heterogenous poorly circumscribed mass situated within the cerebellar vermis. After complete tumour resection, pathologic examination with immunohistochemical study confirmed the diagnosis. The postoperative course after 18 months was favorable with no evidence of tumor recurrence. PMID:23158671
Beizig, N; Ziadi, S; Ladib, M; Mokni, M
Several variants of dermatofibroma have been described. They are essentially distinguished by their clinical and histopathological features. To review the mainfeaturesof these variants, a retrospective study of skin biopsies and tissue excisions of dermatofibromasperformed in the dermatology and venereology service at the Hospital Garcia de Orta between May 2007 and April 2012 was carried out. During that period, 192 dermatofibromas were diagnosed in 181 patients, the lesions being more common in women. Median age of the study population was 48 years. The most common lesion site was the limbs (74% of patients). The histopathological types found were common fibrous histiocytoma (80%) and the aneurysmal (5.7%),hemosiderotic (5.7%), epithelioid (2.6%), cellular (2.1%), lipidized (2.1%), atrophic (1.0) and clear cell (0.5%) variants. Based on these findings, this review focuses on the clinical and histological features of the various variants of dermatofibroma in terms of their clinical presentation, distinct histopathological features, differential diagnosis and prognosis. PMID:24937822
Alves, João Vítor Pina; Matos, Diogo Miguel; Barreiros, Hugo Frederico; Bártolo, Elvira Augusta Felgueira Leonardo Fernandes
Several variants of dermatofibroma have been described. They are essentially distinguished by their clinical and histopathological features. To review the mainfeaturesof these variants, a retrospective study of skin biopsies and tissue excisions of dermatofibromasperformed in the dermatology and venereology service at the Hospital Garcia de Orta between May 2007 and April 2012 was carried out. During that period, 192 dermatofibromas were diagnosed in 181 patients, the lesions being more common in women. Median age of the study population was 48 years. The most common lesion site was the limbs (74% of patients). The histopathological types found were common fibrous histiocytoma (80%) and the aneurysmal (5.7%),hemosiderotic (5.7%), epithelioid (2.6%), cellular (2.1%), lipidized (2.1%), atrophic (1.0) and clear cell (0.5%) variants. Based on these findings, this review focuses on the clinical and histological features of the various variants of dermatofibroma in terms of their clinical presentation, distinct histopathological features, differential diagnosis and prognosis.
Alves, Joao Vitor Pina; Matos, Diogo Miguel; Barreiros, Hugo Frederico; Bartolo, Elvira Augusta Felgueira Leonardo Fernandes
Pleomorphic hyalinizing angiectatic tumor (PHAT) is a rare soft tissue tumor of intermediate malignancy and uncertain cellular origin and lineage of differentiation. Although PHAT is still poorly characterized at the genetic level, there is a potential genetic overlap with two other soft tissue tumors: myxoinflammatory fibroblastic sarcoma (MIFS) and hemosiderotic fibrolipomatous tumor (HFLT); MIFS and HFLT share a characteristic t(1;10)(p22;q24) with breakpoints in the TGFBR3 locus on chromosome 1 and near the MGEA5 locus on chromosome 10. Recently, a PHAT with a similar t(1;10) was reported, suggesting a genetic link between MIFS/HFLT and PHAT. To ascertain whether PHAT is also associated with this translocation, two cases were subjected to single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization analyses. Neither PHAT showed a t(1;10) or other types of rearrangement of the TGFBR3 or MGEA5 loci. Both tumors showed imbalances in the SNP array analysis, but none was shared. Thus, the results indicate that PHAT is genetically distinguishable from MIFS and HFLT, but further studies are needed to identify the salient genetic pathways involved in PHAT development. PMID:23177593
Mohajeri, Arezoo; Kindblom, Lars-Gunnar; Sumathi, Vaiyapuri P; Brosjö, Otte; Magnusson, Linda; Nilsson, Jenny; Nord, Karolin H; Mertens, Fredrik
Close monitoring of liver iron content is necessary to prevent iron overload in transfusion-dependent anemias. Liver biopsy remains the gold standard; however, MRI potentially offers a noninvasive alternative. Iron metabolism and storage is complicated and tissue/disease-specific. This report demonstrates that iron distribution may be more important than iron speciation with respect to MRI signal changes. Simple synthetic analogs of hepatic lysosomes were constructed from noncovalent attachment of horse-spleen ferritin to 0.4 ?m diameter phospholipid liposomes suspended in agarose. Graded iron loading was achieved by varying ferritin burden per liposome as well as liposomal volume fraction. T1 and T2 relaxation times were measured on a 60 MHz NMR spectrometer and compared to simple ferritin-gel combinations. Liposomal-ferritin had 6-fold stronger T2 relaxivity than unaggregated ferritin but identical T1 relaxivity. Liposomal-ferritin T2 relaxivity also more closely matched published results from hemosiderotic marmoset liver, suggesting a potential role as an iron-calibration phantom.
Wood, John C.; Fassler, Joe D.; Meade, Tom
Primary cardiac tumors involving the heart may be either benign or malignant. Most of the benign tumors are myxomas, which are most commonly located in the left atrium. Primary malignant neoplasms usually involve the myocardium and the interior of the cardiac cavities, whereas neoplasms metastatic to the heart most commonly involve pericardium, and pericardial effusion and constriction are the most common consequences. Computed tomography and magnetic resonance imaging are becoming the most useful instruments of precision for the diagnosis of cardiac tumors. Pericardial cysts, teratomas, lipomatous hypertrophy of the atrial septum, papillary fibroelastomas, thrombi, and sarcoid are frequently mistaken for cardiac neoplasms. There are a number of cardiac consequences of malignancy, including radiation heart disease, cardiac hemorrhages, cardiac infection, cardiac adiposity or the corticosteroidtreated heart, cardiac hemosiderosis, and toxicity due to anthracycline chemotherapy.
Lipomatous extra-axial lesions in the Sylvian fissure are a rare entity. Their identification, however, is usually simple if a systematic radiological approach is adopted. The best line of management for these lesions is still a matter of controversy and fraught with complications. We present a case of a Sylvian fissure lipoma referred to our neurosurgery services with symptomatic seizures and in a post-traumatic patient. The radiological differentiating features of intracranial lipomas and intracranial dermoids have been discussed. The unusual location of the lesion, in combination with the history of seizures and the nature of presentation (trauma being a red-herring) make this case an interesting find. The lesion was managed conservatively with good outcomes at follow up, on anti-epileptic medications.
Bokhari, Rakan Farouk; Bangash, Mohammad Hasan; Ahamed, Naushad Ali Basheer; Addas, Jameel
We present a case of retroperitoneal well-differentiated inflammatory liposarcoma that was extremely difficult to diagnose preoperatively. Computed tomography and magnetic resonance images showed a 5-cm homogeneous soft-tissue mass with a decreased apparent diffusion coefficient and without fat component in the retroperitoneum. Minimal fat stranding was detected around the mass. The preoperative working diagnosis was malignant lymphoma or inflammatory pseudotumor, whereas the final diagnosis after surgery was well-differentiated inflammatory liposarcoma. As a result, only a large component of lymphoid infiltration was recognized as a tumor preoperatively, and minimal fat stranding represented a component of lipoma-like liposarcoma. In this entity, a lipomatous component could easily be missed on radiologic imaging because of the conspicuity of lymphoid infiltration. We should consider the possibility of this variant when we evaluate a retroperitoneal tumor. PMID:18770006
Kawano, Rinsaku; Nishie, Akihiro; Yoshimitsu, Kengo; Irie, Hiroyuki; Tajima, Tsuyoshi; Hirakawa, Masakazu; Ishigami, Kousei; Ushijima, Yasuhiro; Okamoto, Daisuke; Yabuuchi, Hidetake; Taketomi, Akinobu; Nishihara, Yunosuke; Fujita, Nobuhiro; Honda, Hiroshi
Myolipoma is a rare, benign, lipomatous tumour which most commonly occurs in the retroperitoneum, pelvis, and abdomen. A 4-year-old boy presented with a painless enlarging mass in the left paraspinal region. Magnetic Resonance Imaging (MRI) revealed a soft tissue lesion with high fat content and areas of calcification. Excision and histopathological analysis revealed a tumour composed of lobules of mature adipose tissue and broad septa of well-differentiated smooth muscle tissue. The smooth muscle nature of the nonfatty component was demonstrated by a diffuse and strong immunoreactivity for smooth muscle actin and desmin. The mass was reported as a myolipoma. The patient made an unremarkable recovery from surgery and remains healthy with no signs of recurrence at seven years. This paper represents the youngest patient diagnosed with this rare soft tissue tumour which is normally confined to the adult population. A newly reported site of the tumour is also highlighted.
Parratt, M. T. R.; Gokaraju, K.; Spiegelberg, B. G. I.; Miles, J.; Cannon, S. R.; Briggs, T. W. R.
Fibrolipoma is characterized by the presence of prominent bundles of mature fibrous tissue traversing the fatty lobules. We present a case of a pathologically-proven fibrolipoma arising in the right ring finger of a 66-year-old female. Physical examination showed a 2-cm, soft, mobile, nontender mass. Neurovascular examinations including Tinel sign were normal. Plain radiographs revealed a well-defined radiolucent area with no calcification. Magnetic resonance imaging showed a lipomatous tumor with an unusual biphasic pattern. The patient underwent an excisional biopsy. Histologically, the tumor consisted of mature adipocytes with sclerotic fibrous elements as well as myxoid changes. The patient has had no evidence of local recurrence within seven months of follow-up. To the best of our knowledge, this is the first report of fibrolipoma without nerve involvement in the finger. Although nonspecific, clinicians should know the various imaging features of fibrolipoma to avoid an unnecessarily extensive surgery. PMID:23812228
Nishio, Jun; Ideta, Soshi; Aoki, Mikiko; Hamasaki, Makoto; Nabeshima, Kazuki; Iwasaki, Hiroshi; Naito, Masatoshi
We report a case of a 11-year-old boy who presented with a massive soft tissue right cervical painless and progressive lesion displacing trachea to the left and extending into the anteriosuperior mediastinum which was diagnosed to be a lipomatous mass on chest CT scan. Subsequent biopsy and total excision proved it to be a giant cervicomediastinal thymolipoma. It was successfully excised with excellent prognosis and long-term results. A giant paediatric cervicomediastinal thymolipoma is a rare, benign, mediastinal mass of thymic origin. It may remain asymptomatic despite massive size and up to 50% in some series are associated with autoimmune disease. CT scan gives fat density and encapsulated benign nature and biopsy usually establishes the diagnosis. Preoperative tissue diagnosis is important as now the availability of thoracoscopic option is best suited to reduce morbidity. Treatment of choice is total excision using open surgical, minimal invasive techniques or robotic surgery and the prognosis is excellent. PMID:24849642
Patel, Ramnik V; Evans, Kathryn; Sau, Indranil; Huddart, Simon
The fat-forming variant of solitary fibrous tumour (SFT) was previously called lipomatous haemangiopericytoma and is a rare variant of solitary fibrous tumour. It predominantly occurs in the deep soft tissues of the retroperitoneum and thigh. Only a handful of cases involving the perineum, spine, thoracic wall and pelvic cavity have been reported in the radiological literature and the fat-forming variant of SFT involving the pleura has not been previously reported. Herein, we report the CT findings of a case of the fat-forming variant of SFT involving the pleura that was treated by excision. Chest CT showed a large lobulated heterogeneous fatty mass with a multifocal enhancing soft-tissue component in the left lower hemithorax. Although rare, the fat-forming variant of SFT of the pleura should be added to the differential diagnosis of fat-containing pleural soft-tissue tumours.
Park, C Y; Rho, J Y; Yoo, S M; Jung, H K
Spindle cell lipomas are usually located in the subcutaneous tissue of the back, shoulders, and neck. To our knowledge, the presence of such a tumor in the parapharyngeal space has not yet been described. We evaluated a 45-year-old man with a tender swelling of the right parotid area that had reached the submandibular area. Clinical examination and magnetic resonance imaging revealed the presence of a tumor that coated the parotid area laterally and extended into the center of the parapharyngeal space, thus causing a dislocation of the pharyngeal muscles and mucosa. We performed a total parotidectomy and submandibulectomy on the right side and extirpated the parapharyngeal tumor. We were able to spare the facial nerve, and no facial paralysis occurred. Histologic examination revealed an atypical lipomatous tumor with a remarkably large portion of spindles. PMID:11338650
Baumann, I; Dammann, F; Horny, H P; Plinkert, P K
Intussusception is a rare cause of obstruction in adults and has a variable, non-specific presentation. Adult intussusception is usually associated with an underlying organic pathology, such as a benign or malignant tumour which acts as the lead point. Prolapse of the lead-point mass through the anal canal is an extremely rare presentation with very few reported cases in the literature. We describe a case of a 67-year-old man who presented with rectal prolapse of a large soft tissue mass. CT of the abdomen and barium enema revealed partial intussusception of an upper sigmoid lipomatous polyp. Examination under anaesthesia was performed and the prolapse reduced. A laparoscopic sigmoid colectomy was planned. The patient subsequently re-presented clinically unwell with a recurrent necrotic prolapsing mass. Laparotomy and sigmoid colectomy was performed and the patient recovered fully. The resected mass was a 7×4.5×4.0?cm necrotic sigmoid lipoma. PMID:24855078
Elliott, Mark; Martin, Jennifer; Mullan, Fred
Angiolymphoid hyperplasia with eosinophilia (ALHE) is a rare benign vasoproliferative lesion. Although it is a benign disease, lesions are often persistent and difficult to eradicate. ALHE typically presents clinically as papules or nodules, tan, brown, pink or dull red in colour, located predominantly in the head and neck region, especially around the ears and on the forehead and scalp.All races can be affected and no gender predominance exists. The disease also has nonspecific clinical features, hence it requires in most of the cases biopsy for accurate diagnosis. We present an uncommon clinical presentation of the disease, mimicking clinically a subcutaneous lipomatous mass, which has been treated successfully with surgical excision. PMID:22956004
Tchernev, Georgi; Taneva, Teodora; Ananiev, Julian; Cardoso, José Carlos; Gulubova, Maya; Velev, Valentin; Karashmalakov, Anatoli; Zisova, Liliya; Geilen, Christoph C
Patient: Female, 34 Final Diagnosis: Lipoma of the large intestine Symptoms: Abdominal pain • bloating • blood in stool • constipation • lose of appetite • nausea Medication: — Clinical Procedure: — Specialty: Surgery Objective: Rare disease Background: Lipoma of the large intestine is rare, account for only 5% of all gastrointestinal tumors. Lipomas are usually asymptomatic but rarely may cause bleeding, obstruction and intussusception. We present a case of a giant colonic lipoma causing descending-colonic intussusception. Case Report: 34 yo F presented with the intermittent left lower quadrant abdominal pain for 3 weeks. The pain initially was associated with bloating and constipation and for the last several days frank blood in stool, nausea and decreased appetite. CT scan of the abdomen revealed descending colonic obstruction by a 5.3 cm colonic lipomatous mass with resultant intussusception. Patient initially underwent colonoscopy that revealed polypoid lesion at 3–40 similar to lipoma with intussusception that was reduced. Patient subsequently underwent laparoscopic segmental left colectomy for the descending colonic intussusception due to large colonic lipomatous mass. Pathology confirmed the histology of lipoma. Conclusions: Adult bowel intussusception is a rare but challenging condition to diagnose in a timely manner. Preoperative diagnosis is usually missed or delayed because of nonspecific and often subacute symptoms. Lipoma is a rare cause of the intussusception. A high index of suspicion and appropriate investigations (abdominal ultrasound, CT scan and colonoscopy) can result in prompt diagnosis. Lipoma of the large intestine is very rare. Submucosal lipomas are usually asymptomatic but may cause bleeding, obstruction, intussusception, or abdominal pain. Accurate preoperative diagnosis is difficult and lipoma is often mistaken for adenomatous polyp or carcinoma. Treatment usually requires formal resection of the involved bowel segment due to high suspicion for malignancy and subsequent complications due to obstruction.
Allos, Ziad; Zhubandykova, Dina
A revision of bone tumor pathology in patients treated with multiple injections of the short-lived alpha-particle emitter radium-224, predominantly for tuberculosis and ankylosing spondylitis, revealed an unexpectedly high proportion of bone sarcomas of the fibrous connective tissue type. This included the first case of malignant fibrous histiocytoma of bone described after internal irradiation. A comparison of bone tumor types in the radium-224 patients and bone sarcoma after incorporation of radium-226 and radium-228 and external irradiation and in tumors arising at sites of pre-existing bone lesions showed the same spectrum of tumors. The high incidence of bone tumors of the fibroblastic and fibrohistiocytic type was observed in all these "secondary" bone sarcomas. These results suggest that a close histogenetic relationship exists between disorder of the local milieu caused by deterministic radiation damage accompanied by disturbances of the remodeling process. The reactive proliferation of the predominantly fibroblastic tissue could be the presumptive origin of these special types of radiation-induced bone sarcomas. PMID:10564927
Of 394 ''definite'' mesotheliomas entered in the Australian Mesothelioma Surveillance Program, three bore a striking resemblance to malignant lymphoma by conventional light microscopy, and each was misinterpreted at some stage as lymphoma. The lymphoma-like morphology was a combined result of intense lymphoplasmacytic infiltration and the histiocytoid appearances of the underlying neoplastic cell population. Immunocytochemical analysis demonstrated cytokeratins coexpressed with vimentin within the tumor cells, whereas immunoreactivity for leukocyte common antigen was confined to the smaller lymphoid cells. Electron microscopy of two cases revealed a polymorphous population of fibrohistiocytic cells resembling those typical of malignant fibrous histiocytoma, admixed with lymphocytes and plasma cells, but sporadic cells expressed mesothelial properties in the form of sinuous villiform processes, intracytoplasmic neolumina lined by microvilli, and intermediate filaments that were aggregated into tonofilament bundles in some cells. The ultrastructural appearances, the localization of the tumors to the pleura, with effusion, and absence of anterior mediastinal mass lesions facilitated exclusion of lymphocyte-rich thymoma. In addition, a history of prior occupational exposure to asbestos was elicited in each instance. There was no apparent response to radiotherapy or chemotherapy, and the patients died at 4, 5, and 8 months after presentation. Our observations suggest that immunocytochemical or ultrastructural evaluation is mandatory for accurate diagnosis of all pleura-based lymphomatoid lesions with a mixed large and small cell pattern. 42 references.
Henderson, D.W.; Attwood, H.D.; Constance, T.J.; Shilkin, K.B.; Steele, R.H.
Dermatofibrosarcoma protuberans (DFSP) of the breast is rare. Late and painful local recurrence of this entity on this site is even more uncommon. We describe such a case in a 102-year-old woman, who at the age of 77 years had been operated for a breast lump for which only a cytopathological diagnosis of fibrohistiocytic tumour was available. Twenty years later, she noticed a small mass in her right breast over the postsurgical scar area, which gradually increased in size over the last five years. She presented to the surgical out-patient clinic with pain and redness over the swelling. Wide local excision of the tumor with generous tissue margin was performed under intercostal block on account of her age and suboptimal cardiac status. The microscopic and immunohistochemical findings established the diagnosis of recurrent DFSP. We report an exceptionally rare case of local recurrence of DFSP in the female breast and discuss in detail the diagnostic and therapeutic implications of this pathology. PMID:24298499
Roy, Asitava Deb; Nishant, Kumar; Joshi, Deepti
The authors report the cases of two children who presented in the first months of life with progressive macrocrania related to chronic pericerebral fluid collection. This condition resolved spontaneously without treatment after a few months in the first case, whereas it required several aspirations of blood-stained fluid via the fontanel in the second case. Both patients developed normally without evidence of disease in the earliest years of life and presented at the ages of 3 1/2 and 4 1/2 years, respectively, with symptoms and signs of rapidly progressing intracranial hypertension. In both cases contrast-enhanced computerized tomography and magnetic resonance imaging revealed masses in the subdural space of the skull base and the cranial vault associated with significant subdural fluid collections. In the first case the lesion was misdiagnosed in the initial phase and treated, by means of multiple craniotomies, as an organized subdural hematoma. After a diagnosis of liposarcoma had been made, the patient was treated with chemotherapy, which resulted in a good resolution of the lesions at 3-month follow-up review. In the second case a biopsy allowed the diagnosis of fibrohistiocytic sarcoma and the patient was treated with chemotherapy. The authors review the literature of the few reported cases and discuss the possible pathophysiological association between pericerebral fluid collection and the subsequent development of a subdural sarcoma. PMID:9046316
Cinalli, G; Zerah, M; Carteret, M; Doz, F; Vinikoff, L; Lellouch-Tubiana, A; Husson, B; Pierre-Kahn, A
The histopathological variants of malignant melanoma include the common type (lentigo maligna, superficial spreading melanoma, nodular melanoma, acrolentiginous melanoma), spindle cell, desmoplastic, balloon cell, pleomorphic (fibrohistiocytic), myxoid, small cell melanoma and malignant blue nevus. Recently, signet-ring cell melanoma was introduced as an additional cytologic variant. We describe a 72-year-old patient with a primary signet-ring cell melanoma of the skin located on the upper arm. Histopathologic examination disclosed a melanocytic tumor extending from the epidermis to the deep reticular dermis. Numerous pleomorphic tumor cells showed large, intracellular vacuoles and oval to spindle-shaped nuclei at their periphery. Mitotic figures and multinucleated melanocytes were also observed. Some of the signet-ring cells exhibited cytoplasmatic periodic acid-Schiff (PAS)-positivity. Immunohistochemistry showed positive reaction of the tumor cells for S-100, HMB-45 protein and vimentin, confirming their melanocytic differentiation. Tumor cells were negative for cytokeratins, epithelial membrane antigen (EMA), and carcinoembryonic antigen (CEA). The signet-ring cell melanoma disclosed an invasion to Clark Level IV and tumor thickness of 2.2 mm. Signet-ring cell melanoma is a rare morphologic variant of melanoma. Its recognition is important for differentiation from other tumors featuring signet ring cells. PMID:10599947
Breier, F; Feldmann, R; Fellenz, C; Neuhold, N; Gschnait, F
Of 394 "definite" mesotheliomas entered in the Australian Mesothelioma Surveillance Program, three bore a striking resemblance to malignant lymphoma by conventional light microscopy, and each was misinterpreted at some stage as lymphoma. The lymphoma-like morphology was a combined result of intense lymphoplasmacytic infiltration and the histiocytoid appearances of the underlying neoplastic cell population. Immunocytochemical analysis demonstrated cytokeratins coexpressed with vimentin within the tumor cells, whereas immunoreactivity for leukocyte common antigen was confined to the smaller lymphoid cells. Electron microscopy of two cases revealed a polymorphous population of fibrohistiocytic cells resembling those typical of malignant fibrous histiocytoma, admixed with lymphocytes and plasma cells, but sporadic cells expressed mesothelial properties in the form of sinuous villiform processes, intracytoplasmic neolumina lined by microvilli, and intermediate filaments that were aggregated into tonofilament bundles in some cells. The ultrastructural appearances, the localization of the tumors to the pleura, with effusion, and absence of anterior mediastinal mass lesions facilitated exclusion of lymphocyte-rich thymoma. In addition, a history of prior occupational exposure to asbestos was elicited in each instance. There was no apparent response to radiotherapy or chemotherapy, and the patients died at 4, 5, and 8 months after presentation. Our observations suggest that immunocytochemical or ultrastructural evaluation is mandatory for accurate diagnosis of all pleura-based lymphomatoid lesions with a mixed large and small cell pattern. PMID:2458647
Henderson, D W; Attwood, H D; Constance, T J; Shilkin, K B; Steele, R H
Fibrohistiocytic tumors of the skin comprise a large range of lesions. One such tumor is the atypical fibroxanthoma (AFX), which is widely considered as a "pseudomalignant" tumor. It is derived from fibroblasts and expresses a variety of histiocytic markers. We present a case of AFX, localized in the right temporal region of the scalp, successfully treated with surgical excision. Immunohistochemical staining helps differentiate this tumor from others in the clinical differential diagnosis, including malignant melanoma, squamous cell carcinoma, and other nonmelanocytic spindle cell tumors such as leiomyosarcoma, rhabdomyosarcoma, angiosarcoma, liposarcoma, and dermatofibrosarcoma protuberans. Historically, AFX was believed to be a superficial variant of malignant fibrous histiocytoma (MFH). However, MFH is now considered a more generalized term for a sarcomatous neoplasm of the subcutaneous tissue. The histopathology of MFH shares features with some malignant mesenchymal neoplasms such as liposarcoma, leiomyosarcoma, rhabdomyosarcoma, and angiosarcoma, but can be differentiated using immunohistochemistry and/or electron microscopy. More recently, the examples of MFH that do not exhibit a more specific line of differentiation have been reclassified as undifferentiated pleomorphic sarcoma (UPS). Many authors currently cannot draw a distinction between AFX and UPS. The clinical and histopathological differences between AFX and UPS are often difficult to delineate. It is probable that they represent two poles of the same disease. Surgical excision in the patient we describe resulted in excellent aesthetic results with lack of recurrence in the 7-month postoperative period. PMID:23319144
Tchernev, Georgi; Tronnier, Michael; Ananiev, Julian; Taneva, Teodora; Patterson, James W; Gulubova, Maya; Trafeli, John P; Gegova, Antonina; Harrell, Mason; Guarneri, Claudio; Wollina, Uwe; Cardoso, José Carlos; Kanazawa, Nobuo; Zisova, Liliya; Forsea, Ana-Maria; Zouboulis, Christos C
Dermatofibrosarcoma protuberans (DFSP) of the breast is rare. Late and painful local recurrence of this entity on this site is even more uncommon. We describe such a case in a 102-year-old woman, who at the age of 77 years had been operated for a breast lump for which only a cytopathological diagnosis of fibrohistiocytic tumour was available. Twenty years later, she noticed a small mass in her right breast over the postsurgical scar area, which gradually increased in size over the last five years. She presented to the surgical out-patient clinic with pain and redness over the swelling. Wide local excision of the tumor with generous tissue margin was performed under intercostal block on account of her age and suboptimal cardiac status. The microscopic and immunohistochemical findings established the diagnosis of recurrent DFSP. We report an exceptionally rare case of local recurrence of DFSP in the female breast and discuss in detail the diagnostic and therapeutic implications of this pathology.
Roy, Asitava Deb; Nishant, Kumar; Joshi, Deepti
Dedifferentiated liposarcoma (DDL), occurring in up to 10% of well differentiated liposarcoma cases, has similar histologic features to that of undifferentiated high-grade pleomorphic sarcoma (UHGPS); the former develops in a background of atypical lipomatous tumors/well differentiated liposarcoma, whereas the latter shows no specific line of differentiation. The retroperitoneum and thigh represent the most common anatomic locations for both the sarcomas. Despite their morphologic similarity, the issue of whether these 2 sarcomas share overlapping immunohistochemical and molecular features has not been well studied. We examined the expression of the lipogenic tumor-related markers peroxisome proliferator-activated receptor gamma (PPAR-gamma), CDK4, and MDM2 in 15 cases of DDL and 45 cases of retroperitoneal/thigh UHGPS. Patients with DDL ranged from 31 to 82 years (mean 63 y) with a male:female ratio of 5:3. Patients with UHGPS ranged from 14 to 80 years (mean 52 y) with a male:female ratio of 3:2. All 15 DDLs expressed CDK4 and MDM2 (100%), and 8 of 15 cases expressed PPAR-gamma (53%). Twenty-three of 45 (51%) UHGPS expressed at least 1 of these 3 markers. We also studied MDM2 and CDK4 gene amplification by fluorescence in situ hybridization in 28 immunohistochemically positive cases, including 5 DDLs and 23 UHGPSs. All 5 cases of DDL showed MDM2 and/or CDK4 amplification (100%), whereas 6 of 45 UHGPSs showed MDM2 and/or CDK4 amplification (13%). Our results demonstrate that (1) the lipogenic tumor markers CDK4 and MDM2 can be used as surrogate immunohistochemical markers for the diagnosis of malignant lipomatous tumors with high sensitivity; (2) approximately 26% of retroperitoneal/thigh UHGPS cases that were positive for PPAR-gamma, CDK4, or MDM2 by immunohistochemistry showed characteristic CDK4 and MDM2 gene amplification, suggesting that a subset of UHGPS cases represent DDL despite lacking histologic evidence of lipoblasts. PMID:19574885
Chung, Lawrance; Lau, Sean K; Jiang, Zhong; Loera, Sofia; Bedel, Victoria; Ji, Jianling; Weiss, Lawrence M; Chu, Peiguo G
Adipocytic tumors are common mesenchymal neoplasms with considerable morphologic and genetic heterogeneity. The fruitful integration of morphology and cytogenetics in the past 15 years has not only enhanced the diagnostic accuracy, but also refined the various pathological classifications and subtypes in these tumors. The current WHO classification includes eleven benign subtypes, one intermediate and five categories of malignant fatty neoplasms with incorporation of relevant genetic findings. Of the benign tumors, lipomas have been extensively analyzed by chromosome banding which has shown that their cytogenetic patterns are heterogeneous. Still aberrations involving 12q13-->q15, 6p23-->p21 and loss of material from 13q are common and consistent findings. Among the malignant tumors, the t(12;16)(q13;p11) resulting in the fusion of DDIT3 and FUS genes is the hallmark of myxoid and round cell liposarcoma and is used as a highly specific and sensitive marker of this entity. The tumor in the intermediate group, atypical lipomatous neoplasm/well-differentiated liposarcoma which poses morphologic challenges due to close histological similarity to benign lipomas shows characteristic supernumerary rings and giant rod chromosomes due to amplification of the 12q14-->q15 region often involving the MDM2 oncogene. This review will focus on the pathological features of the various adipocytic tumors and relevant genetic findings reported in the literature. PMID:18000364
Liposarcomas are mesenchymal tumors containing variable numbers of lipoblasts or adipocytes. The most common entities, well differentiated/dedifferentiated liposarcoma (WDLS/DDLS) and myxoid/round cell liposarcoma (MLS/RCLS), are both characterized by genetic rearrangements that affect the expression of the transcription factor DDIT3. DDIT3 induces liposarcoma morphology when ectopically expressed in a human fibrosarcoma. The role of DDIT3 in lipomatous tumors is, however, unclear. We have analyzed the expression of DDIT3 in 37 cases of liposarcoma (WDLS/DDLS n = 10, MLS/RCLS n = 16, and pleomorphic liposarcomas (PLS) n = 11) and 11 cases of common benign lipomas. Major cell subpopulations of WDLS/DDLS and MLS/RCLS tumors were found to express DDIT3 or the derived fusion protein, whereas PLS cases showed only a few positive cells. The lipomas contained large subpopulations expressing DDIT3. No correlation between numbers of DDIT3 expressing cells and numbers of lipoblasts/adipocytes was found. In vitro adipogenic treatment of two DDIT3 expressing cell lines induced lipid accumulation in small subpopulations only. Our results suggest a dual, promoting and limiting, role for DDIT3 in the formation of lipoblasts and liposarcoma morphology.
Benign symmetrical lipomatosis (BSL), or Madelung's disease, is a rare disease characterized by the progressive growth of diffuse, painless, non-enveloped symmetric lipomas. The etiology of this disease remains unknown, although it was associated in the medical literature with alcohol and nicotine abuse, metabolic disorders and a number of malignancies. It is assumed that there is a genetic predisposition for this affliction. The management in such cases is surgical removal of the lipomas, most times in several sessions, but this is often followed by relapse. However, surgical removal of the lipomas can provide satisfactory patient functionality and cosmetic results. The differential diagnosis is made with morbid obesity, Cushing syndrome, angiolipomatosis, encapsulated lipomas, neurofibromatosis, myxoid liposarcoma, lymphoma, salivary gland disease, Frolich and lipomatosis syndrome in patients infected with HIV. The current paper reports the case of a 55 year-old man, who presented with several large lipomatous masses, arranged symmetrically on the front and back of the trunk, and several smaller lipomas in the upper and lower limbs. Treatment consisted of resection of these lipomas in several sessions, without recurrence at one year after the last operation. PMID:23958107
Ardeleanu, V; Chicos, S; Georgescu, C; Tutunaru, D
Aim: To evaluate the predominant colorectal polyps in the Almadinah region of Saudi Arabia. Materials and Methods: In this iretrospective study, we analyzed pathology reports of colonoscopies performed in King Fahad Hospital, Madinah, Saudi Arabia during the period 2006 to 2013. Data based on patient age, gender, size, site and type of polyps and the degree of dysplasia were analyzed by software SPSS 17 and compared with other published studies from different geographic regions of the world. Results: During these years, 224 patients had colonic polyps, of whom 149 (66.5%) were men and 75 (33.5%) were women. The most common types of polyps were adenomatous (166), followed by hyperplastic polyps (24), juvenile (18), inflammatory (13), lipomatous (2) and one patient with Peutz-Jegher polyps. Tubulovillous adenoma was the commonest adenomatous polyp (102), followed by tubular (41) and villous (23) types. The sigmoid colon was the most commonly involved region (36.6%). Dysplasia was significantly associated with female patients who had large size tubulovillous polyps located in the left colon. Conclusions: The type and distribution of colorectal polyps in Saudi Arabia is very similar to Western countries. Patient gender, and size, histological type and location of polyps are closely related to dysplastic change in colonic polyps. PMID:24761882
Albasri, Abdulkader; Yosef, Hala; Hussainy, Akbar; Bukhari, Saud; Alhujaily, Ahmed
Atypical lipomatous tumors (ALTs)/well-differentiated liposarcomas represent a distinctive subset of mesenchymal neoplasms featuring mature adipocytic proliferation. These tumors are characterized cytogenetically by the presence of supernumerary ring and/or long marker chromosomes that contain several copies of the chromosomal region 12q13-15, in which the HMGA2 gene is located. Deregulation of the HMGA2 gene is a common molecular alteration implicated in the development of a variety of benign tumors, such as lipomas, uterine leiomyomas, and pulmonary chondroid hamartomas. In this study, we observed HMGA2 overexpression in 7 of 12 ALT primary cell cultures examined. Subsequently, we generated an adenovirus containing the HMGA2 gene in the antisense orientation (Ad-A2as) to study the effect of HMGA2 protein suppression in ALT cells. The infection of six ALT cells, three of which were positive for HMGA2 expression, resulted in growth inhibition coupled with a significant increase in apoptosis. In addition, the growth of the ALT cells negative for HMGA2 expression was not affected by the infection with either the Ad-A2as or the control virus. On the basis of these findings, the targeting of the HMGA2 protein expression may represent a promising approach for treating the well-differentiated liposarcomas resistant to conventional therapies. PMID:14612541
Pentimalli, Francesca; Dentice, Monica; Fedele, Monica; Pierantoni, Giovanna Maria; Cito, Letizia; Pallante, Pierlorenzo; Santoro, Massimo; Viglietto, Giuseppe; Dal Cin, Paola; Fusco, Alfredo
Soft tissue sarcomas are rare and heterogeneous tumours. Histological diagnosis is often difficult because of the numerous types and subtypes reported and morphological similarities with benign lesions in certain cases. Molecular analyses performed in an appropriate clinical and histological context improve the patients' management in the case of sarcomas with simple genomic profile: the identification of a specific and objective molecular abnormality can confirm a diagnosis, rule out another one, provide prognostic information, and guide the selection of targeted therapy About 15% of sarcomas bear a specific translocation that can be identified by FISH or RT-PCR. The search for a MDM2 amplification, reflecting the presence of an amplicon in the 12q region, is a sensitive and specific tool for the diagnosis of atypical lipomatous tumors/well-differentiated liposarcomas and dedifferentiated iposarcomas. The presence and the type of KITor PDGFRA activating mutation guide the diagnosis and treatment of GIST. Certain molecular abnormalities are found in several tumour types, emphasizing the importance of integrating the results of any molecular study within the morphological and immunohistochemical context: In France, sarcoma diagnosis is structured around a reference network (RRePS) that provides every pathologist an access to these molecular analysis tools. PMID:23687749
Chetaille, Bruno; Laibe, Sophy; Choukeir, Nisrine; Bertucci, François
The characterisation of adrenal lesions is a common radiological dilemma. Incidental adrenal lesions are commonly detected with computed tomography (CT), and lesion characterisation is critical. The prevalence of incidental adrenal lesions has been reported to be 2.3% at autopsy and 0.5-2% with abdominal CT. Such lesions are likely to be seen with increasing frequency given the expanding use of radiological imaging in clinical practice. Although the majority of adrenal lesions are benign, in patients with an extra-adrenal primary cancer the probability of an adrenal mass being a metastasis is 52%. Unfortunately, there may be significant overlap between the imaging appearances of benign lesions such as lipid-poor adenomas and malignant lesions, particularly metastases and small adrenal carcinomas. This review highlights recent advances in radiological imaging of adrenal lesions and we discuss the relative merits of CT and magnetic resonance imaging to aid the identification of benign and malignant adrenal lesions and their roles, in combination with biochemical and clinical data, in recognizing common pathologies such as adrenal adenoma, phaeochromocytoma, carcinoma and metastases. We also discuss the radiological characteristics of rarer adrenal lesions including lymphoma, neuroblastic tumours (neuroblastoma, ganglioneuroblastoma, and ganglioneuroma), lipomatous tumours (myelolipoma, angiolipoma, teratoma, lipoma and liposarcoma), in addition to hemangioma, hemangiosarcoma and leiomyosarcoma. PMID:19471240
Welsh, S J; Khan, S
Objective To describe the MRI findings in ten patients of spinal epidural angiolipoma for differentiated diagnosis presurgery. Materials and Methods Ten surgically proved cases of spinal epidural angiolipomas were retrospectively reviewed, and the lesion was classified according to the MR findings. Results Ten tumors were located in the superior (n = 4), middle (n = 2), or inferior (n = 4) thoracic level. The mass, with the spindle shape, was located in the posterior epidural space and extended parallel to the long axis of the spine. All lesions contained a fat and vascular element. The vascular content, correlating with the presence of hypointense regions on T1-weighted imaging (T1WI) and hyperintense signals on T2-weighted imaging, had marked enhancement. However, there were no flow void signs on MR images. All tumors were divided into two types based on the MR features. In type 1 (n = 3), the mass was predominantly composed of lipomatous tissue (> 50%) and contained only a few small angiomatous regions, which had a trabeculated or mottled appear. In type 2 (n = 7), the mass, however, was predominantly composed of vascular components (> 50%), which presented as large foci in the center of the mass. Conclusion Most spinal epidural angiolipomas exhibit hyperintensity on T1WI while the hypointense region on the noncontrast T1WI indicates to be vascular, which manifests an obvious enhancement with gadolinium administration.
Hu, Su; Hu, Xiao-yun; Wang, Xi-ming; Dai, Hui; Fang, Xiang-ming; Cui, Lei
We report on two cases of patients with fat-equivalent masses in computed tomography (CT), referred to our department for dynamic positron emission tomography/CT (dPET/CT) with 18F-fluorodeoxyglucose (18F-FDG) in order to investigate their dignity. Both qualitative and quantitative information, as derived from dPET/CTs, couldn’t exclude a high-grade liposarcoma: Visual evaluation, revealed a large hypermetabolic focus of intense 18F-FDG uptake in each patient (average SUVs 8.3 and 11.3). Regression-based parametric imaging demonstrated an enhanced distribution volume, which correlates to perfusion, and a high phosphorylation rate that correlates to cell viability. Kinetic analysis, based on a two-tissue compartment model demonstrated an enhanced FDG transport k1 and an enhanced phosphorylation rate k3. A non-compartmental approach based on fractal dimension revealed also enhanced values. However, final diagnosis was based on biopsy, which revealed hibernoma, a benign brown fat tumor. Brown adipose contains increased numbers of mitochondria and a high-rate of glucose metabolism. Therefore, they have increased FDG uptake. The evaluation of lipomatous lesions on CT, with high FDG uptake, should include the possibility of hibernoma as a differential diagnosis.
Sachpekidis, Christos; Roumia, Safwan; Schwarzbach, Matthias; Dimitrakopoulou-Strauss, Antonia
Launois-Bensaude syndrome is a rare pathology. The presence of multiple, symmetric, non encapsulated lipomatous masses in the face, neck, upper arms and upper trunk is typical. Men are especially affected between age of 35 and 50. The disease is frequently associated with alcoholism, hepatopathy, glucose intolerance, hyperuricemia, and malignant tumors of the upper airways, requiring thorough clinical evaluation of all patients. Cosmetic deformity and compression lead patients to seek treatment. Therapy is difficult. Dietary treatment and weight loss are of limited value in the management of this pathology. Surgery is the only effective treatment. The surgeon must make sure that the patient has ceased his alcohol abuse before performing this treatment. Conventional surgery or liposuction are used to restore a normal social life to these patients, deformed by their disease. This surgical management has a severe tendency to haemorrhage, dissection is complicated by infiltrations of neighbouring tissue and is frequently followed by recurrence, mainly after liposuction. Nevertheless, based on a review of ten cases, good results of surgical removal must prompt to operate them on. PMID:19042074
Pauchot, J; Golay, A; Gumener, R; Montandon, D; Pittet, B
Introduction The present study was aimed to characterize the clinicopathological, immunohistochemical features and treatment outcomes of primary oral and maxillofacial liposarcomas by presenting the experience over a 16-year period at a tertiary referral Chinese institution for head neck cancer. Material and methods This retrospective clinical study included 11 cases of pathologically confirmed primary liposarcomas treated from January 1993 to September 2009. Detailed information regarding primary site, clinical manifestations, histopathological and immunohistochemical analysis, treatments and prognosis was collected and reported. Results Eight female and 3 male patients aged from 8 to 76 years old. These lesions occurred in buccal (3), parotid (2), temporal (2), tongue (2), palate (1) and oropharyngeal (1) region. They were histopathologically categorized into 4 subtypes based on WHO classification scheme: atypical lipomatous tumor/well-differentiated (4), myxoid (4), mixed-type (2) and pleomorphic (1) liposarcomas. Immunohistochemical staining indicated mostly positive for Vimentin and S-100 but negative for other markers. Most patients presented as slow-growing painless masses and underwent surgery alone or combined with postoperative radiotherapy. Two patients were misdiagnosed and inappropriate treated and developed local relapse before referred to our institute. No distant metastasis and one disease-related death were recorded during the follow-up (ranging: 1-11 years, mean: 4.5 years). Conclusions Oral and maxillofacial liposarcoma is exceedingly rare and has atypical clinical manifestations but characteristic histopathology. Complete excision with negative margins followed by long-term follow-up is recommended as the treatment of choice for these uncommon entities.
Cheng, Jie; Yu, Hongbo; Wang, Lizhen; Wang, Xudong
Oncocytic adrenocortical neoplasm is characterized by abundant eosinophilic cytoplasm containing mitochondria, occasional nuclear atypia and diffuse growth pattern. Oncocytic adrenocortical neoplasm arising in adrenal rest is, however, extremely rare. We report a case of oncocytic adrenocortical neoplasm arising in adrenal rest of the broad ligament with associated marked lipomatous metaplasia. A well circumscribed tumor was accidentally detected in the pelvic cavity of a 29 year old Japanese woman, adjacent to the broad ligament of the uterus. The tumor was composed of large eosinophilic cells associated with diffuse growth pattern and abundant mature adipose tissue admixed with foci of clear cells. Both steroidgenic factor 1 (SF-1) and alpha-inhibin were immunohistochemically positive in tumor cells. Abundant mitochondria detected by immunohistochemical and electron microscopic examination confirmed the diagnosis of oncocytic adrenocortical neoplasm. The absence of necrosis, capsular and vascular invasion as well as the low mitotic index indicated the benign potential of this tumor. The tumor cells were also positive for dehydroepiandrosteron-sulfotransferase (DHEA-ST), 17?-hydroxysteroid dehydrogenase type 5 (17?-HSD5), 3?-hydroxysteroid dehydrogenase (3?-HSD) and steroid 17?-hydroxylase (P450-c17), suggesting a possible production of testosterone of this tumor. This is the first reported case of oncocytic adrenocortical adenoma arising in adrenal rest of the broad ligament. PMID:24750189
Kasajima, Atsuko; Nakamura, Yasuhiro; Adachi, Yuzu; Takahashi, Yayoi; Fujishima, Fumiyoshi; Chiba, Yutaka; Uehara, Shigeki; Watanabe, Mika; Sasano, Hironobu
The authors report a case of cervical intramedullary lipoma extending into the bulbomedullary junction. 99 cases of cervical and/or dorsal intramedullary lipomas without spinal dysraphism, reported since 1884, are reviewed. There is poor correlation between lipoma's length and age of onset. Only lipoma extended to all the spinal cord begin in the first years of life. Clinical presentation is in 58% of cases a slowly compressive myelopathy, a syringomyelic syndrome in 9.5% of cases, a Brown Sequard syndrome in 6.5% of cases or atypical clinical features in 26% of patients. Finding of a subcutaneous lipoma at the level of the lesion helps for diagnosis. C.T. scan and magnetic resonance imaging (M.R.I.) precise lipomatous constitution of the tumor, its limits and relations with neighbouring tissues. Surgery is necessary when clinical features are advanced. Surgery indication is debatable when neurological manifestations are poor or absent. Post operative course is generally good and is not related with type of intervention. PMID:1299777
Mrabet, A; Zouari, R; Mouelhi, T; Khouaja, F; Ghariani, M T; Hila, A; Haddad, A
Consistent rearrangements of chromosomes 13q and 16q have been identified in spindle cell and pleomorphic lipomas by cytogenetics. Mammary-type myofibroblastoma and cellular angiofibroma show overlapping histologic features and similar chromosomal losses, suggesting a possible relationship among these tumor types. The tumor suppressor gene RB1, encoding the retinoblastoma (Rb) protein, is located at 13q14, within a minimally deleted region in spindle cell lipoma. The purpose of this study was to examine expression of Rb by immunohistochemistry in spindle cell lipoma, pleomorphic lipoma, mammary-type myofibroblastoma, and cellular angiofibroma, and in histologic mimics, to determine its potential diagnostic utility. Whole-tissue sections of 194 tumors were evaluated: 18 spindle cell lipomas, 20 pleomorphic lipomas, 19 mammary-type myofibroblastomas, 16 cellular angiofibromas, 22 conventional lipomas (8 intramuscular), 18 atypical lipomatous tumors (all positive for MDM2 and CDK4), 19 solitary fibrous tumors, 19 myxoid liposarcomas, 14 hibernomas, 11 deep (aggressive) angiomyxomas, 9 angiomyofibroblastomas, and 9 vulval fibroepithelial stromal polyps. Immunohistochemistry was performed after pressure cooker antigen retrieval using a mouse anti-Rb monoclonal antibody. Nuclear staining for Rb was scored as "intact" or "deficient." Rb expression was deficient in all spindle cell lipomas, pleomorphic lipomas, and cellular angiofibromas and in 17 (89%) mammary-type myofibroblastomas. Rb staining was sometimes difficult to interpret in cellular angiofibromas with reactive stromal changes. Rb was also deficient in 2 (9%) conventional lipomas. Rb expression was intact in all other tumor types evaluated. In summary, of the soft tissue tumors associated with 13q deletions, all spindle cell lipomas, pleomorphic lipomas, and cellular angiofibromas and most mammary-type myofibroblastomas show loss of Rb expression. Rb expression is intact in histologic mimics. These findings reinforce the pathogenetic relationship among this group of tumors and demonstrate the potential diagnostic utility of immunohistochemistry for Rb. PMID:22790852
Chen, Benjamin J; Mariño-Enríquez, Adrián; Fletcher, Christopher D M; Hornick, Jason L
Somatic mutations in the phosphatidylinositol/AKT/mTOR pathway cause segmental overgrowth disorders. Diagnostic descriptors associated with PIK3CA mutations include fibroadipose overgrowth (FAO), Hemihyperplasia multiple Lipomatosis (HHML), Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal (CLOVES) syndrome, macrodactyly, and the megalencephaly syndrome, Megalencephaly-Capillary malformation (MCAP) syndrome. We set out to refine the understanding of the clinical spectrum and natural history of these phenotypes, and now describe 35 patients with segmental overgrowth and somatic PIK3CA mutations. The phenotypic data show that these previously described disease entities have considerable overlap, and represent a spectrum. While this spectrum overlaps with Proteus syndrome (sporadic, mosaic, and progressive) it can be distinguished by the absence of cerebriform connective tissue nevi and a distinct natural history. Vascular malformations were found in 15/35 (43%) and epidermal nevi in 4/35 (11%) patients, lower than in Proteus syndrome. Unlike Proteus syndrome, 31/35 (89%) patients with PIK3CA mutations had congenital overgrowth, and in 35/35 patients this was asymmetric and disproportionate. Overgrowth was mild with little postnatal progression in most, while in others it was severe and progressive requiring multiple surgeries. Novel findings include: adipose dysregulation present in all patients, unilateral overgrowth that is predominantly left-sided, overgrowth that affects the lower extremities more than the upper extremities and progresses in a distal to proximal pattern, and in the most severely affected patients is associated with marked paucity of adipose tissue in unaffected areas. While the current data are consistent with some genotype-phenotype correlation, this cannot yet be confirmed. © 2014 Wiley Periodicals, Inc. PMID:24782230
Keppler-Noreuil, Kim M; Sapp, Julie C; Lindhurst, Marjorie J; Parker, Victoria E R; Blumhorst, Cathy; Darling, Thomas; Tosi, Laura L; Huson, Susan M; Whitehouse, Richard W; Jakkula, Eveliina; Grant, Ian; Balasubramanian, Meena; Chandler, Kate E; Fraser, Jamie L; Gucev, Zoran; Crow, Yanick J; Brennan, Leslie Manace; Clark, Robin; Sellars, Elizabeth A; Pena, Loren Dm; Krishnamurty, Vidya; Shuen, Andrew; Braverman, Nancy; Cunningham, Michael L; Sutton, V Reid; Tasic, Velibor; Graham, John M; Geer, Joseph; Henderson, Alex; Semple, Robert K; Biesecker, Leslie G
Hepatic angiomyolipoma is rare and may pose differential diagnostic difficulty, particularly if encountered in core needle biopsy. We studied 6 cases from 5 males and one female (median age, 48.6 yrs). All presented with non-specific symptoms or an incidentally discovered tumor mass. Two patients had a remote history of chemotherapy for hematological neoplasms (acute lymphoblastic leukemia and Hodgkin lymphoma respectively) and another had clear cell renal cell carcinoma and anaplastic pancreatic carcinoma diagnosed at autopsy without definable syndrome. None of the patients had evidence of the tuberous sclerosis complex or renal or other extra-renal angiomyolipoma. Three tumors were resected completely and three have been only biopsied and followed up. None of the resected cases recurred at a mean follow-up of 35 months. Histologically, tumors were classified as classical triphasic (1), lipomatous (2), epithelioid/oncocytoid (1), epithelioid trabecular (1) and myelolipoma-like (1). The adjacent liver parenchyma was normal in 3 cases, showed pigment cirrhosis in one case and mild fatty change in another case. One case had clinically diagnosed but histologically unverified cirrhosis. The initial diagnostic impression/frozen section was misleading in 5 of the cases and included vascular lesion, focal fatty change, myelolipoma, hepatocellular tumor and oncocytic neoplasm. All tumors expressed HMB45 and variably desmin. One epithelioid lesion expressed HMB45 and TFE3, but lacked desmin expression. In conclusion, hepatic angiomyolipomas are increasingly recognized as incidental findings during surveillance for cirrhosis or investigations for unrelated conditions. Awareness of their diverse morphological spectrum in liver biopsy is necessary to avoid misdiagnosis as hepatocellular carcinoma, metastatic melanoma or other malignant neoplasms.
Agaimy, Abbas; Vassos, Nikolaos; Croner, Roland S; Strobel, Deike; Lell, Michael
Hepatic angiomyolipoma is rare and may pose differential diagnostic difficulty, particularly if encountered in core needle biopsy. We studied 6 cases from 5 males and one female (median age, 48.6 yrs). All presented with non-specific symptoms or an incidentally discovered tumor mass. Two patients had a remote history of chemotherapy for hematological neoplasms (acute lymphoblastic leukemia and Hodgkin lymphoma respectively) and another had clear cell renal cell carcinoma and anaplastic pancreatic carcinoma diagnosed at autopsy without definable syndrome. None of the patients had evidence of the tuberous sclerosis complex or renal or other extra-renal angiomyolipoma. Three tumors were resected completely and three have been only biopsied and followed up. None of the resected cases recurred at a mean follow-up of 35 months. Histologically, tumors were classified as classical triphasic (1), lipomatous (2), epithelioid/oncocytoid (1), epithelioid trabecular (1) and myelolipoma-like (1). The adjacent liver parenchyma was normal in 3 cases, showed pigment cirrhosis in one case and mild fatty change in another case. One case had clinically diagnosed but histologically unverified cirrhosis. The initial diagnostic impression/frozen section was misleading in 5 of the cases and included vascular lesion, focal fatty change, myelolipoma, hepatocellular tumor and oncocytic neoplasm. All tumors expressed HMB45 and variably desmin. One epithelioid lesion expressed HMB45 and TFE3, but lacked desmin expression. In conclusion, hepatic angiomyolipomas are increasingly recognized as incidental findings during surveillance for cirrhosis or investigations for unrelated conditions. Awareness of their diverse morphological spectrum in liver biopsy is necessary to avoid misdiagnosis as hepatocellular carcinoma, metastatic melanoma or other malignant neoplasms. PMID:22949933
Agaimy, Abbas; Vassos, Nikolaos; Croner, Roland S; Strobel, Deike; Lell, Michael
Background Fine needle aspiration cytology (FNAC) forms one of the first diagnostic tools in the evaluation of tumors. Its role in diagnosing soft tissue tumors (STT) has been fairly documented, as well as debated. Present study was aimed at evaluating its scope in diagnosing 127 cases of soft tissue tumors. Methods Conventional Pap and MGG staining was available in all the cases. Immunocytochemistry (ICC) was performed in 15 cases. Histopathological details were available in 115 cases. Results 50% cases were referred for a primary diagnosis, while 26.8% & 22.8% cases were evaluated for recurrent and metastatic lesions, respectively. Extremities were the commonest sites. On FNAC, 101 cases (79.5%) were labeled as malignant, whereas 10 cases (7.9%) were labeled as benign. The remaining 16 cases (11%) were not categorized and were labeled as 'unsure/not specified'. Histopathological confirmation in 115 cases, gave a diagnostic accuracy of 98%, with a positive predictive value of 98% in malignant cases and a negative predictive value of 100% in benign cases. Two cases were false positive. Among the various cytological categories, 60 cases (47.2%) were of spindle cell type, followed by 32 (25.2%) of round cell type and 14 cases (11%) of lipomatous type. Other 12 cases (9.4%) were of pleomorphic type; 7 (5.5%) cases of epithelioid type and remaining 2 cases were of myxoid type. All the round cell, pleomorphic and myxoid type of tumors were sarcomas, whereas 73.3% cases of spindle cell type were labeled as 'malignant'. Exact cytological sub typing was offered in 58 cases, with rhabdomyosarcoma (RMS) as the most frequently sub typed tumor. The two false positive malignant cases were of fibromatosis and a pigmented schwannoma, on biopsy. Out of 28 metastatic lesions, lymph nodes were the commonest site for metastasis, with epithelioid tumors that formed highest percentage of metastatic cases. Conclusion FNAC is fairly specific and sensitive in STT diagnoses for primary, recurrent and metastatic lesions. The cytological types, especially round cell and pleomorphic sarcomas, can be quickly identified. Clinicopathological correlation with ICC as an adjunct, are valuable in exact sub typing.
Rekhi, Bharat; Gorad, Biru D; Kakade, Anagha C; Chinoy, RF
Background Diagnosing adipocytic tumors can be challenging because it is often difficult to morphologically distinguish between benign, intermediate and malignant adipocytic tumors, and other sarcomas that are histologically similar. Recently, a number of tumor-specific chromosome translocations and associated fusion genes have been identified in adipocytic tumors and atypical lipomatous tumors/well-differentiated liposarcomas (ALT/WDL), which have a supernumerary ring and/or giant chromosome marker with amplified sequences of the MDM2 and CDK4 genes. The purpose of this study was to investigate whether quantitative real-time polymerase chain reaction (PCR) could be used to amplify MDM2 and CDK4 from total RNA samples obtained from core-needle biopsy sections for the diagnosis of ALT/WDL. Methods A series of lipoma (n?=?124) and ALT/WDL (n?=?44) cases were analyzed for cytogenetic analysis and lipoma fusion genes, as well as for MDM2 and CDK4 expression by real-time PCR. Moreover, the expression of MDM2 and CDK4 in whole tissue sections was compared with that in core-needle biopsy sections of the same tumor in order to determine whether real-time PCR could be used to distinguish ALT/WDL from lipoma at the preoperative stage. Results In whole tissue sections, the medians for MDM2 and CDK4 expression in ALT/WDL were higher than those in the lipomas (P?0.05). Moreover, karyotype subdivisions with rings and/or giant chromosomes had higher MDM2 and CDK4 expression levels compared to karyotypes with 12q13-15 rearrangements, other abnormal karyotypes, and normal karyotypes (P?0.05). On the other hand, MDM2 and CDK4 expression levels in core-needle biopsy sections were similar to those in whole-tissue sections (MDM2: P?=?0.6, CDK4: P?=?0.8, Wilcoxon signed-rank test). Conclusion Quantitative real-time PCR of total RNA can be used to evaluate the MDM2 and CDK4 expression levels in core-needle biopsies and may be useful for distinguishing ALT/WDL from adipocytic tumors. Thus, total RNA from core-needle biopsy sections may have potential as a routine diagnostic tool for other tumors where gene overexpression is a feature of the tumor.
Congenital lumbosacral lipomas can be responsible for progressive defects. The general feeling is that tethering of roots, filum, or cord probably explains this evolution, and that untethering of these structures could prevent late deterioration. Like the vast majority of neurosurgeons, we too have routinely and systematically operated on lumbosacral lipomas, even in the absence of neurological deficits. This policy stemmed from our belief that spontaneous neurological deterioration was frequent, recovery from preoperative deficits rare, and surgery both efficient and benign in nature. After 22 years of experience, we felt that it was necessary to review our series of 291 lipomas (38 lipomas of the filum and 253 of the conus) operated on from 1972 to 1994. To reassess the value of prophylactic surgery, we attempted an accurate evaluation of (1) the risk of pathology, (2) the risks involved in surgery, (3) the postoperative outcome with respect to preoperative deficits, and (4) the postoperative outcome in asymptomatic patients at 1 year and at maximum follow-up. Special attention was paid to 93 patients whose postoperative follow-up was more than 5 years (average 8.7, median 8, range 5-23 years). Of these 93 patients, 39 were asymptomatic preoperatively (7 with lipoma of the filum and 32 with lipoma of the conus). Lipomas of the filum and of the conus are entirely different lesions and were studied separately. In 6 cases prenatal diagnosis had been possible. The mean age at surgery was 6.4 years. Low back skin stigmata were present in 89.4% of cases. Preoperative neurological deficits existed in 57% of the patients and were congenital in 22%. Clinical signs and symptoms recorded were pain in 13.3% of the patients and/or neurological deficits affecting sphincter (52%), motor (27.6%) and sensory (22.4%) functions. Deficits were progressive in 22.4% of cases, slowly progressive in 58.8% of these and rapidly progressive in the remaining 41.2%. In 36 patients (13.2%) the lipomas were seen to grow either subcutaneously or intraspinally. Among these patients, 21 were infants, 2 were obese adolescents, and 10 were pregnant women. The metabolism of the fat within the lipomas was studied in 11 patients and found to be similar to that at other sites. Lipomas were associated with various other malformations, either intra- or extraspinal. These associated anomalies were rare in the case of lipomatous filum (5.2%) but frequent with lipomas of the conus, except for intracranial malformations (3.6%). Therapeutic objectives were spinal cord untethering and decompression, sparing of functional neural tissue and prevention of retethering. Procedures used to achieve these goals were subtotal removal of the lipoma, intraoperative monitoring, duroplasty, and sometimes closure of the placode. Histologically, lipomas consisted of normal mature fat. However, 77% of them also included a wide variety of other tissues, originating from ectoderm, mesoderm, or entoderm. This indicates that lipomas are either simple or complex teratomas. The results of the study are as follows. (1) Surgery was easy and safe when performed for treatment of lipomas of the filum (no complications), but difficult and hazardous in the case of lipomas of the conus (20% local, 3.9% neurological complications). (2) All types of deficit could be improved by surgery, which was beneficial in all cases of lipoma of the filum and 50% of cases of lipoma of the conus. (3) In asymptomatic patients long-term surgical results depended on the anatomical type of the lipoma. They were excellent in lipomas of the filum. In lipomas of the conus they were good in the short term but eroded with time. At more than 5 years of follow-up only 53.1% of the patients were still free of symptoms. (4) Reoperations were performed in 16 patients (5.5%), 5 (31.2%) of whom improved postoperatively, while in 7 (43.7%) progression stopped, in 3 (18.7%) deterioration continued and in 1 (6.2%) the condition was wor PMID:9272285
Pierre-Kahn, A; Zerah, M; Renier, D; Cinalli, G; Sainte-Rose, C; Lellouch-Tubiana, A; Brunelle, F; Le Merrer, M; Giudicelli, Y; Pichon, J; Kleinknecht, B; Nataf, F