伴复发转移的类似卵巢性索肿瘤的子宫肿瘤临床病理特征及文献复习

Uterine tumour resembling ovarian sex cord tumour with metastasis: a clinicopathologic study of four cases with follow-up

目的 探讨伴复发转移的类似卵巢性索肿瘤的子宫肿瘤(uterine tumour resembling ovarian sex cord tumour, UTROSCT)的临床病理特征。方法 收集UTROSCT共4例5份标本,进行HE及免疫组化染色,FISH方法检测NCOA1、NCOA2、NCOA3基因断裂情况。电话随访和医院信息系统获得随访资料。结果 瘤细胞小至中等大小,上皮样,胞质少,呈岛状、条索状、腺管及弥漫排列。肿瘤细胞可同时表达上皮、肌源性、雌/孕激素受体、性索间质等多种标记。FISH检测1例NCOA1基因重排阳性。3例伴有至少一个以下特征:坏死、肌层侵犯、脉管内瘤栓和高核分裂象,其中2例分别于随访5年和8年复发/转移。结论 UTROSCT是一种少见肿瘤,熟悉其形态学特征有助于避免误诊。肌层侵犯、坏死、脉管侵犯及高核分裂象数等形态学特征显示肿瘤具有侵袭性和进展风险。

Objective To investigate the clinicopathologic features, diagnosis and prognosis of uterine tumour resembling ovarian sex cord tumour(UTROSCT)with metastasis. Methods Four cases of UTROSCT were selected for this study. H&E and immunohistochemistry were performed on these cases. NCOA1, NCOA2 and NCOA3 gene rearrangements were tested by fluorescence in situ hybridization(FISH). Follow-up data were obtained from hospital information system and telephone interview. Results Tumour cells were small to medium size, epithelioid, with scant cytoplasm. The growth patterns were insular, trabecular, tubules and sheets in arrangement. Polyphenotypic coexpression of markers of epithelium, smooth muscle, hormone receptors as well as sex cord lineage were observed. One case harbored NCOA1 rearrangement. At least one of characteristics including necrosis, myometrial invasion, vascular invasion and brisk mitotic activity were identified in 3 cases, 2 of whom suffered relapsed and metastasis five and eight years after operation, respectively. Conclusion UTROSCT is a rare entity of uterus. To be familial with its morphological features would lead to the correct diagnosis. Risky factors for progress including myometrial invasion, vascular invasion, necrosis and high mitotic index should be reported.