Sclerosing epithelioid fibrosarcoma as a rare cause of ascites in a young man: A case report

Article (PDF Available)inJournal of Medical Case Reports 2(1):248 · July 2008with31 Reads
DOI: 10.1186/1752-1947-2-248 · Source: PubMed
Sclerosing epithelioid fibrosarcoma is a rare but distinct variant of fibrosarcoma that not only presents as a deep-seated mass on the limbs and neck but can also occur adjacent to the fascia or peritoneum, as well as the trunk and spine. We report the case of an intra-abdominal sclerosing epithelioid fibrosarcoma, which to best of the authors' knowledge has not been described previously. The patient discussed here developed lung metastases but is still alive 1-year post-diagnosis. A 29-year-old man presented with a 2-week history of progressive abdominal distension and pain and was found to have marked ascites. A full liver screen was unremarkable with abdominal and chest computed tomography scans only confirming ascites. After a diagnostic laparotomy, biopsies were taken from the greater omentum and peritoneal nodules. Histopathology revealed a malignant tumour composed of sheets and cords of small round cells set in collagenized stroma. After further molecular investigation at the Mayo Clinic, USA, the diagnosis of a high-grade sclerosing epithelioid fibrosarcoma was confirmed. Sclerosing epithelioid fibrosarcoma is an extremely rare tumour, which is often difficult to diagnose and which few pathologists have encountered. This case is particularly unusual because of the intra-abdominal origin of the tumour. Owing to the rarity of sclerosing epithelioid fibrosarcoma, there is no clear evidence regarding the prognosis of such a tumour, although sclerosing epithelioid fibrosarcoma is able to metastasize many years post-presentation. It is important that physicians and pathologists are aware of this unusual tumour.

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    • "To date, less than 15 cases of intraabdominal SEF have been reported. They originated in the retroperitoneum/pelvis (5); kidney (3); mesentery/omentum or intraabdominal organs (3); and 1 case each in cecum, liver, and pancreas56721,22] . Intraabdominal SEF may rarely present as aggressive intraabdominal sarcomatosis [5]. "
    [Show abstract] [Hide abstract] ABSTRACT: Sclerosing epithelioid fibrosarcoma (SEF) is a rare fibrosarcoma variant with specific histomorphology and consistent translocation (EWSR1-CREB3L1/2). To date, 110 cases have been reported; only 15 originated within the abdomen. With only 2 cases reported parallel to our study and one case briefly mentioned in a previous series, primary renal SEF is exceptionally rare but might be underrecognized. We herein describe 2 cases affecting a 23-year-old woman and a 43-year-old man. Tumor size was 22 and 4.2 cm, respectively. Patient 1 developed skeletal and multiple pulmonary metastases. She died of disease 82 months later, despite aggressive multimodality therapy. Patient 2 has no evidence of recurrence or metastasis (8 months after surgery). Histologic examination showed similar appearance with monotonous bland medium-sized epithelioid cells with rounded slightly vesicular nuclei and clear cytoplasm imparting a carcinoma-like appearance set within a highly sclerotic hyaline fibrous stroma. The tumor cells were arranged in nests, single cell cords, trabeculae, or solid sheets with frequent entrapment of renal tubules and glomeruli. Immunohistochemistry showed strong expression of vimentin, bcl2, CD99, and MUC4, whereas cytokeratin and other markers were negative. Fluorescence in situ hybridization showed a translocation involving the EWSR1 gene locus in case 2. Molecular analysis in case 1 was not successful due to poor signal quality. To our knowledge, this is the second report documenting primary renal SEF. Awareness of this entity would help avoid misinterpretation as clear cell carcinoma, sclerosing perivascular epithelioid cell tumor, Xp.11 translocation carcinoma, and other more frequent neoplasms at this site. Copyright © 2015. Published by Elsevier Inc.
    Full-text · Article · May 2015
    • "According to the pathomorphological classification there can be listed a few types of fibrosarcomas with different levels of malignancy (WHO's STS classification from 2002): @BULLET Myxoinflammatory fibroblastic sarcoma, @BULLET Infantile fibrosarcoma, both mild malignant, rarely metastasizing. However, as malignant tumors there are clas- sified: @BULLET Adult fibrosarcoma, @BULLET Myxofibrosarcoma, known in the past as a myxoid type of MFH, @BULLET Low-grade fibromyxoid sarcoma and hyalinizing spindle cell tumor, which are closely related tumors with the same molecular pathomechanism (gene fusion FUS/CREB3L2), differentiating only in the morphological picture – the presence of collagenous rosettes in hyalinizing tumor, @BULLET Sclerosing epithelioid fibrosarcoma – histopathologically a benign tumor, clinically with high potential for infiltration and metastasis [47]. The last three types are grouped as fibrosing fibrosarcomas. "
    [Show abstract] [Hide abstract] ABSTRACT: Cardiac tumors are assumed to be a rare entity. Metastases to the heart are more frequent than primary lesions. Sarcomas make up the majority of cardiac malignant neoplasms. Among them angiosarcoma is the most common and associated with the worst prognosis. Malignant fibrous histiocytoma comprises the minority of cardiac sarcomas and has uncertain etiology as well as pathogenesis. Transthoracic echocardiography remains the widely available screening examination for the initial diagnosis of a cardiac tumor. The clinical presentation is non-specific and the diagnosis is established usually at an advanced stage of the disease. Sarcomas spread preferentially through blood due to their immature vessels without endothelial lining. Surgery remains the method of choice for treatment. Radicalness of the excision is still the most valuable prognostic factor. Adjuvant therapy is unlikely to be effective. The management of cardiac sarcomas must be individualized due to their rarity and significant differences in the course of disease.
    Full-text · Article · Feb 2014
    • "SEFs mainly present as tumors of the lower extremities (39%), followed by the trunk (21%) and upper extremities (14.5%), but also rare locations like pituitary gland, intraspinal or base of penis have been described12345678. Typically SEF is complicated by high frequencies of local tumor relapse and distant metastases (30%–40%)23491011. Metastases mostly occur in lung (70%), bone (41%) and soft tissue234 with a median interval of 7.7 years from diagnosis to first apparent metastasis [1], but according to a recent meta-analysis up to 27% of patients display distant metastases already at time of diagnosis [2]. "
    [Show abstract] [Hide abstract] ABSTRACT: Sclerosing epithelioid fibrosarcoma (SEF) is a rare soft tissue sarcoma mostly occurring in extraosseous sites. SEF represents a clinically challenging entity especially because no standardized treatment regimens are available. Intraosseous localization is an additional challenge with respect to the therapeutical approach. We report on a 16-year-old patient with SEF of the right proximal tibia. The patient underwent standardized neoadjuvant chemotherapy analogous to the EURAMOS-1 protocol for the treatment of osteosarcoma followed by tumor resection and endoprosthetic reconstruction. Histopathological analysis of the resected tumor showed >90% vital tumor cells suggesting no response to chemotherapy. Therefore, therapy was reassigned to the CWS 2002 High-Risk protocol for the treatment of soft tissue sarcoma. To date (22 months after diagnosis), there is no evidence of relapse or metastasis. Our data suggest that SEF may be resistant to a chemotherapy regimen containing Cisplatin, Doxorubicin, and Methotrexate, which should be considered in planning treatment for patients with SEF.
    Full-text · Article · Apr 2010
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