Journal ArticleDOI
MUC4 is a highly sensitive and specific marker for low-grade fibromyxoid sarcoma.
Leona A. Doyle,Emely Möller,Paola Dal Cin,Christopher D.M. Fletcher,Fredrik Mertens,Jason L. Hornick +5 more
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TLDR
MUC4 is a highly sensitive and quite specific immunohistochemical marker for LGFMS, and can be helpful to distinguish this tumor type from histologic mimics.Abstract:
Low-grade fibromyxoid sarcoma (LGFMS) is a distinctive fibroblastic neoplasm that is characterized by alternating collagenous and myxoid areas, deceptively bland spindle cell morphology, a whorling architecture, and a t(7;16) translocation involving FUS and CREB3L2. Owing to variable morphology and a lack of discriminatory markers, LGFMS can be difficult to distinguish from benign mesenchymal tumors and other low-grade sarcomas. Gene expression profiling has identified differential upregulation of the mucin 4 (MUC4) gene in LGFMS compared with histologically similar tumors. MUC4 is a transmembrane glycoprotein that functions in cell growth signaling pathways; aberrant MUC4 expression has been reported in various carcinomas. We investigated MUC4 protein expression by immunohistochemistry in LGFMS and in other soft tissue tumors to determine the potential diagnostic use of this novel marker. Whole-tissue sections of 309 tumors were evaluated: 49 LGFMSs (all with FUS gene rearrangement confirmed by fluorescence in situ hybridization), 40 soft tissue perineuriomas, 40 myxofibrosarcomas, 20 cellular myxomas, 20 solitary fibrous tumors, 20 low-grade malignant peripheral nerve sheath tumors, 20 cases of desmoid fibromatosis, 20 neurofibromas, 20 schwannomas, 20 monophasic synovial sarcomas, 20 cases of dermatofibrosarcoma protuberans, 10 myxoid liposarcomas, and 10 extraskeletal myxoid chondrosarcomas. The LGFMS cases included 7 with marked hypercellularity, 4 with prominent hemangiopericytoma-like vessels, 3 with giant collagen rosettes, 3 with epithelioid morphology, 2 with focal nuclear pleomorphism, and 2 with areas of sclerosing epithelioid fibrosarcoma. All 49 LGFMS cases (100%) showed cytoplasmic staining for MUC4, which was usually diffuse and intense. All the other tumor types were negative for MUC4, apart from 6 (30%) monophasic synovial sarcomas. In conclusion, MUC4 is a highly sensitive and quite specific immunohistochemical marker for LGFMS, and can be helpful to distinguish this tumor type from histologic mimics.read more
Citations
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WHO classification of soft tissue tumours: an update based on the 2013 (4th) edition.
TL;DR: The fourth edition of the World Health Organization (WHO) Classification of Tumours of Soft Tissue and Bone was published in February 2013, and serves to provide an updated classification scheme and reproducible diagnostic criteria for pathologists.
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Nuclear expression of STAT6 distinguishes solitary fibrous tumor from histologic mimics
TL;DR: STAT6 is a highly sensitive and almost perfectly specific immunohistochemical marker for SFT and can be helpful to distinguish this tumor type from histologic mimics.
Journal ArticleDOI
The emerging complexity of gene fusions in cancer
TL;DR: The spectrum of gene fusions in cancer and how the methods to identify them have evolved are described, and the conceptual implications of current, sequencing-based approaches for detection are discussed.
Journal ArticleDOI
Pathology of Peripheral Nerve Sheath Tumors: Diagnostic Overview and Update on Selected Diagnostic Problems
TL;DR: Although the diagnosis and classification of most conventional peripheral nerve sheath tumors are relatively straightforward for the experienced observer, yet borderline and difficult-to-classify neoplasms continue to be problematic, this review attempts to provide some useful guidelines for the surgical neuropathologist to help navigate these persistent, challenging problems.
References
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The Novel Marker, DOG1, Is Expressed Ubiquitously in Gastrointestinal Stromal Tumors Irrespective of KIT or PDGFRA Mutation Status
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Torsten O. Nielsen,Robert B. West,Sabine C. Linn,Orly Alter,Margaret A. Knowling,John X. O'Connell,John X. O'Connell,Shirley Zhu,Mike Fero,Gavin Sherlock,Jonathan R. Pollack,Patrick O. Brown,David Botstein,Matt van de Rijn +13 more
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Journal ArticleDOI
A novel monoclonal antibody against DOG1 is a sensitive and specific marker for gastrointestinal stromal tumors.
Inigo Espinosa,Cheng-Han Lee,Mi Kyung Kim,Bich Tien N. Rouse,Subbaya Subramanian,Kelli Montgomery,Sushama Varma,Christopher L. Corless,Michael Heinrich,Kevin S. Smith,Zhong Wang,Brian P. Rubin,Torsten O. Nielsen,Robert S. Seitz,Douglas T. Ross,Robert B. West,Michael L. Cleary,Matt van de Rijn +17 more
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Journal ArticleDOI
Membrane-bound mucins: the mechanistic basis for alterations in the growth and survival of cancer cells.
TL;DR: The function and divergent mechanisms of MUC1, MUC4, and MUC16 in carcinogenesis in the context of alteration in cell growth and survival are discussed.
Journal ArticleDOI
Low-grade fibromyxoid sarcoma. A report of 12 cases
TL;DR: One tumor, in the patient who died at 31 years, demonstrated “dedifferentiation” at 30 years, and on follow-up, nine patients experienced local recurrence (from one to numerous times); recurrence was subsequently controlled in five cases but not in the remaining four.