title: Clear cell sarcoma of the ileum: report of a case and review of literature.
abstract: Clear cell sarcoma (CCS) is a high grade soft tissue sarcoma with a distinct molecular profile and with morphological features resembling those of melanoma. CCS has been rarely described in other locations other than the soft tissues, including the gastrointestinal tract. In this study, we report a case of CCS arising in the ileum of a 31-year-old woman. Histologically, the tumor involved the entire thickness of the intestinal wall. Tumor cells were polygonal or fusiform, with clear or eosinophilic cytoplasm, arranged in a uniform nested to fascicular growth pattern. Immunohistochemical studies revealed strong positivity for vimentin and S-100 protein. HMB-45, Melan-A, tyrosinase, cytokeratins, EMA, smooth muscle actin, CD34, CD31, CD117, CD99, synaptophysin, chromogranin A, CD56, and NSE were negative. Fluorescence in situ hybridization analysis demonstrated the presence of a t(12;22)(q13;q12) translocation, the diagnostic hallmark of CCS of soft parts. The present case, together with a detailed review of the literature on this topic, demonstrates that the gastrointestinal tract is a possible site of CCS of soft tissues and that making a reliable diagnosis of this tumor requires cytogenetic or molecular diagnostic investigations.
authors.affiliation: Dipartimento di Patologia Umana ed Oncologia, Università degli Studi di Firenze, V.le Morgagni, 85, 50134 Firenze, Italy. camilla.comin@unifi.it
authors.forename: Camilla E
authors.initials: CE
authors.lastname: Comin
authors.forename: Luca
authors.initials: L
authors.lastname: Novelli
authors.forename: Daniela
authors.initials: D
authors.lastname: Tornaboni
authors.forename: Luca
authors.initials: L
authors.lastname: Messerini
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D007078:Ileal Neoplasms / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D009418:S100 Proteins / Q000378:metabolism; D018227:Sarcoma, Clear Cell / Q000175:diagnosis* / Q000378:metabolism / Q000473:pathology; D014746:Vimentin / Q000378:metabolism
chemical_list: D009418:S100 Proteins; D014746:Vimentin