Askan Gokce, Kombak Faruk Erdem, Seven Ipek Erbarut, Basturk Olca
Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, 10021, USA.
Department of Pathology, Marmara University School of Medicine, Istanbul, Turkey.
J Gastrointest Cancer. 2019 Sep;50(3):651-656. doi: 10.1007/s12029-018-0069-4.
Clear cell sarcoma-like tumor of the gastrointestinal tract (CCSLGT) is a rare and relatively recently described entity. Here, we report a CCSLGT arising in the ileum of 28-year-old man. Histologically, the tumor composed of uniform, epithelioid or spindle cells that have eosinophilic cytoplasm and round, vesicular nucleus with single prominent nucleolus arranged in nests. No melanin pigment is identified. Lymph nodes and liver revealed metastasis. Immunohistochemically, tumor cells labeled with S100, SOX10, while negative for Cam 5.2, HMB-45, A103, CD117, DOG-1, SMA, desmin, chromogranin and synaptophysin. Fluorescence in situ hybridization (FISH) analysis identified rearrangement of (22q12) gene and targeted next generation sequencing revealed characteristic - fusion. The patient received systemic chemotherapy and is alive after eight months. CCSLGT should be kept in mind for any tumor arising from the wall of the gastrointestinal tract with epitheloid or spindle cell population that shows S100 expression and lack of melanocytic differentiation.
胃肠道透明细胞肉瘤样肿瘤（CCSLGT）是一种罕见且相对较新描述的实体。在此，我们报告一例发生于一名28岁男性回肠的CCSLGT。组织学上，肿瘤由均匀的上皮样或梭形细胞组成，这些细胞具有嗜酸性细胞质和圆形、泡状核，单个明显核仁，呈巢状排列。未发现黑色素。淋巴结和肝脏显示有转移。免疫组化方面，肿瘤细胞S100、SOX10标记阳性，而Cam 5.2、HMB - 45、A103、CD117、DOG - 1、SMA、结蛋白、嗜铬粒蛋白和突触素标记阴性。荧光原位杂交（FISH）分析确定（22q12）基因重排，靶向二代测序显示特征性 - 融合。该患者接受了全身化疗，八个月后仍存活。对于任何起源于胃肠道壁且具有上皮样或梭形细胞群体、显示S100表达且缺乏黑素细胞分化的肿瘤，应考虑CCSLGT。
