Xp11.2易位/TFE3基因融合相关性肾癌的临床与病理分析

摘要

Objective To analyze tne clinical and pathological features of renal carcinoma associated with Xpll. 2 translocation/TFE3 gene fusion. Methods Clinical and pathological data of 13 patients with Xpll. 2 translocation/TFE3 gene fusion-related renal carcinoma were retrospectively analyzed. Results Of 13 patients, 10 cases had painless gross hematuria as the first symptom and the high stage of tumors. Imaging of CT enhanced amplitude was (31.85 ± 14. 65) HU. The operations included open nephrectomy in 7 cases, laparoscopic radical nephrectomy in 5 cases and laparoscopic radiofrequency ablation in 1 case. Histologically, the most characteristic manefestation was the papillary structures composed by transparent cells, which was accompanied by nest structure consisted of eosinophilic granular cytoplasm of tumor cells. The high expression of TFE3 and the expressions of CD10XK, EMA and vimentin in different degrees were detected in 13 cases. Conclusion Renal carcinoma associated with Xpll. 2 translocation TFE3 gene fusion has a low incidence. The amplitude of enhanced CT imaging for Xpll. 2 translocation/TFE3 gene fusion-related renal carcinoma is smaller than that of ordinary clear cell renal carcinoma. The diagnosis mainly depends on the characteristic histopathological changes and TFE3-positive immune markers.%目的 探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床及病理学特点.方法 回顾性分析13例Xp11.2易位/TFE3基因融合相关性肾癌的临床和组织学资料.结果 13例中,10例以无痛性肉眼血尿为首发症状,且肿瘤临床分期较高.影像学上CT增强幅度为(31.85±14.65) HU.行开放肾癌根治术7例,腹腔镜肾癌根治术5例,腹腔镜肾癌射频消融1例.组织学最具特征的表现是由透明细胞构成的乳头状结构,常伴有由嗜酸性颗粒胞浆的瘤细胞组成的巢状结构.13例肿瘤均弥漫高表达TFE3,不同程度表达CD10、CK7、P504S和Vimentin.结论 Xp11.2易位/TFE3基因融合相关性肾癌发病率较低;肿瘤CT增强幅度较普通肾透明细胞癌小;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.