Xp11.2易位/TFE3基因融合相关性肾细胞癌1例并文献复习

Renal Cell Carcinoma Associated with Xp11.2 Translocation/TFE3 Gene Fusions: Report of One Case and Literature Review

摘要: 本文报道了1例经病理及基因检测证实的Xp11.2易位/TFE3基因融合相关性肾细胞癌。患者为16岁男性，因间断肉眼血尿20余天入院。CT检查提示右肾占位性病变并腹膜后多发淋巴结转移并侵犯右侧肾静脉、右肾部分肾盏及右侧肾上腺。穿刺活检形态学及免疫表型符合肾细胞癌，FISH检测示TFE3基因断裂阳性，明确诊断。该病临床罕见，多见于儿童，通过免疫组化检测或TFE3荧光原位杂交检测确诊。本文结合相关文献进行复习，以提高对该病的认识。

Abstract: This article reports a case of Xp11.2 translocation/TFE3 gene fusion-associated renal cell carcinoma confirmed by pathological and genetic testing. The patient was a 16-year-old male who was admitted with intermittent macroscopic hematuria for over 20 days. CT examination revealed a space-occupying lesion in the right kidney with multiple retroperitoneal lymph node metastases, invasion of the right renal vein, partial involvement of the right renal calyces, and extension to the right adrenal gland. The morphology and immunophenotype of the aspiration biopsy were consistent with renal cell carcinoma, and FISH testing showed positive TFE3 gene breakage, confirming the diagnosis. This disease is clinically rare and is more commonly seen in children; diagnosis is established through immunohistochemistry or TFE3 fluorescence in situ hybridization testing. This article reviews the relevant literature to improve understanding of this disease.