Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特点

Clinicopathologic characteristics of renal carcinoma associated with Xp11.2 translocation/TFE3 gene fusions

目的探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理学特点。方法对4例Xp11.2易位/TFE3基因融合相关性肾癌进行临床资料分析、组织学观察和免疫组化研究,并复习相关文献。结果4例患者年龄自6-20岁,均具有腰痛的症状和较高的临床分期。肿瘤最大径2.5-10 cm,切面灰黄间灰红色。组织学上,肿瘤显示乳头状和腺泡状2种生长方式,间质可见钙化。肿瘤细胞界限清楚,胞质淡红染至透亮,染色质呈泡状,核仁易见。4例肿瘤均弥漫高表达TFE3和CD10,不同程度表达CK、EMA和vimentin。结论Xp11.2易位/TFE3基因融合相关性肾癌是最近被定义的一种罕见肿瘤,好发于年轻患者,预后较差。其诊断主要依靠特征性的组织病理学改变和免疫标记TFE3阳性。

Purpose To investigate the clinicopathologic features and differential diagnosis of renal carcinoma associated with Xp11.2 translocation / TFE3 gene fusions.Methods Four cases of renal carcinoma associated with Xp11.2 translocation /TFE3 gene fusions were studied clinically,histologically and immunohistochemically,the related literatures were reviewed as well.Results Four patients,aged from 6 to 20 years,all presented with flank pain and at middle to advanced stage.Grossly,the tumors were from 2.5 to 10 cm in largest diameter and with yellow and brown cut surface.Histologically,the tumors showd alveolar and papillary growth patterns,calcification in stromal.The well-defined tumor cells had abundant weakly eosinophilic to clear cytoplasm,vesicluar chromatin,and prominent nucleoli.Immunohistochemically,all cases were diffusely and strongly positive for TFE3 and CD10,variably positive for CK,EMA and Vimentin.Conclusions The renal carcinoma associated with Xp11.2 translocation/TFE3 gene fusions is a newly defined rare entity with a high predominance of young patients and a poor outcome.The pathologic diagnosis is entirely based on the distinct histopathologic findings and immunoreactivity for TFE3 protein.