探讨Xp11.2易位/TFE3基因融合相关性肾癌的临床病理特点、治疗及预后。

对在我院确诊的2例Xp11.2易位/TFE3基因融合相关性肾癌的临床资料进行回顾性分析并对相关文献进行复习。

分别发现患者例1和例2右肾、左肾占位，例1肿瘤大小约11 cm，例2约6 cm，例1和例2分别行开腹右肾、左肾根治性切除术，术后标本进行免疫组化染色均为TFE3（+），例1术后复查发现有肺转移，然后开始口服分子靶向药物，随访18个月，发现疾病再次进展，现已发现骨转移。例2术后未行进一步治疗，目前随访24个月，尚未发现局部复发及远处转移。

Xp11.2易位/TFE3基因融合相关性肾癌是一种Xp11.2染色体易位导致TFE3与其他基因相融合的罕见肾癌，通常无特异性临床表现，结合影像学、组织病理学、免疫组化染色有助于确诊，在成年人中发病的恶性程度较高，手术切除患肾是治疗此类肾癌的首选方案，分子靶向药物对治疗有一定疗效。

To investigate the clinicopathological characteristics, treatment and prognosis of renal cell carcinoma associated with Xp11.2 translocation/TFE3 gene fusions.

Two patients with renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions were diagnosed and treated in our institution. The clinical data was retrospectively analyzed, and the relevant literature was reviewed.

Two patients were found to have renal occupying. The tumor of case 1 was located in the left kidney, with a diameter of about 11cm. The tumor of case 2 was located in the right kidney, with a diameter of about 6 cm. Both patients underwent radical nephrectomy. Immunohistochemical examination showed that both patients were positive for TFE3. Case 1 patient began to take targeted drug after lung metastasis was found. After 18 months of follow-up, bone metastasis had occurred. Case 2 patient did not receive further treatment, there was no recurrence or metastasis after 24 months of follow-up.

Renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion is characterized by the gene fusions between the TFE3, which is located on the chromosome Xp11.2 and a variety of fusion partners. It is a rare renal cancer, which usually has no specific clinical manifestations. The diagnosis mainly depends on imaging, histopathology, and immunohistochemical characteristics. In adults, the disease has a high degree of malignancy. Surgery is the preferred and radical cure for this type of kidney neoplasms, and molecular targeted therapy has a certain effect.