胃肠道透明细胞肉瘤临床病理分析并文献复习

Clear cell sarcoma of gastrointestinal tract: clinicopathologic analyses and review of literatures

目的探讨胃肠道透明细胞肉瘤(clear cell sarcoma of the gastrointestinal tract,CCS-GI)的临床病理特征及遗传学特点。方法对1例CCS-GI进行组织学观察、免疫组化染色、荧光原位杂交(fluorescence in situ hybridization,FISH)检测,并复习相关文献。结果患者女性,因"腹痛1周"入院,CT检查示右半结肠肿瘤,肉眼观察结肠黏膜面可见一溃疡型肿块,切面灰白、实性、质嫩,侵及全层。镜下见中等大小的圆形或卵圆形肿瘤细胞呈片状排列,肿瘤细胞间可见散在分布的破骨细胞样多核巨细胞。肿瘤细胞S-100蛋白弥漫阳性,HMB-45、Melan-A、CD117、CD1a及PCK均阴性。FISH检测结果示74%的肿瘤细胞存在EWSR1基因易位。结论 CCS-GI是一种特殊类型的胃肠道肿瘤,具有独特的组织学、免疫表型、超微结构及遗传学特征,该类肿瘤中的胃肠道透明细胞肉瘤样肿瘤亚型是否为一个独立的病变实体,尚需增加病例量进一步研究,包括细胞遗传学和分子生物学的相关研究。

Purpose To study the clinicopathologic and genetic features of clear cell sarcoma of the gastrointestinal tract. Methods One case of clear cell sarcoma of the gastrointestinal tract was analyzed by histology, immunohistochemistry, fluorescence in situ hy- bridization （ FISH）, with review of relevant literatures. Results A female patient was admitted to the hospital with a history of 1-week abdominal pain. Computed tomography revealed a mass in right hemicolon. A grey-white ulcerated mass was observed in the colon, in- volving the entire thickness of the colon wall extending into the subserosa. Microscopically, medium-size oval or round cells were ar- ranged in sheets and scattered osteoclast-like muhinueleated giant cells were also presented. Immunohistochemically, the tumor cells were strongly positive for S-100 protein, but negative for HMB-45, Melan-A, CD117, CD1 a and PCK. FISH showed the rearrangement of EWSR1 in 74% of the neoplasm cells. Conclusions Clear cell sarcoma of the gastrointestinal tract is an extraordinarily rare gastro- intestinal neoplasm that shows peculiar histopathological, immunohistochemical, ultrastructural, and genetic features. Whether clear cell sarcoma-like gastrointestinal tumor represents a distinct entity awaits larger series, including cytogenetic or molecular biological in- vestigation.