Xp11.2易位/TFE3基因融合相关性肾细胞癌的临床病理学特点

Clinicopathologic features of renal cell carcinoma associated with Xp11.2 translocation/TFE 3 gene fusions

目的探讨Xp11.2易位/TFE3基因融合相关性肾细胞癌的临床病理学特点、诊断与鉴别诊断。方法报道2例Xp11.2易位/TFE3基因融合相关性肾细胞癌,结合文献复习对该肿瘤的临床表现、组织学特点、免疫表型及预后进行分析。结果患者均为男性,年龄分别为56岁和4.5岁。肿瘤界限清楚,切面灰黄色,可见出血、坏死和钙化。组织学上,肿瘤显示腺泡状、片状和假乳头状生长方式。肿瘤细胞界限清楚,胞质淡红染至透亮,细胞核圆,染色质呈空泡状,核仁明显。肿瘤细胞TFE3、CD10和P504S弥漫强(+)。结论 Xp11.2易位/TFE3基因融合相关性肾细胞癌是一种罕见肿瘤,好发于年轻人。其诊断主要依靠组织病理学和免疫组化TFE3染色。

Objective To study the clinicopathologic features,diagnosis and differential diagnosis of renal cell carcinoma associated with Xp11.2 translocation/TFE 3 gene fusions（Xp11.2 translocation RCC）.Methods The clinical manifestations,histopathological features,immunotype and prognosis were analyzed in two cases of Xp11.2 translocation RCC with review of the related literature.Results The two male patients were aged 56 years and 4.5 years,respectively.Grossly,the two well-defined tumors had yellowish cut surface with necrosis,hemorrhage and calcifications.Histologically,the tumor showed alveolar,flake and pseudopapillary growth patterns.The demarcated tumor cells had abundant faintly ensinophilic to clear cytoplasm,vesicular chromatin and prominent nucleoli.Immunohistochemically,the tumor cells were strongly and diffusely positive for TFE3,CD10 and P504S.Conclusion The Xp11.2 translocation RCC is a rare lesion with a high predominance of young patients.The diagnosis is entirely based on the specific histologic findings and TFE3 immunostaining.