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目的：报道一例Xp11.2 易位/TFE3 基因融合相关性肾癌的诊治经过，探讨该病的临床和病理特征、诊断和治疗以及预后。方法：男性，7 岁，以无痛性肉眼血尿为主诉就诊，入院后行B 超，CT 等影像学检查及常规实验室检查，行右肾根治性切除术，并予病理检查及基因检测，确诊为Xp11.2 易位/TFE3 基因融合相关性肾癌。结合相关文献资料，分析Xp11.2 易位/TFE3基因融合相关性肾癌的临床和病理、诊断及治疗和预后等。结果：患者B 超和CT 检查提示右肾实质性占位，增强CT 检查提示右肾中部实质内可见团状混杂密度影，增强后未见明显强化；术前诊断右肾肿瘤，术中探查难以实施保留肾单位手术，遂行根治性肾切除术。术后病理：灰红色肿块，边界清楚，肿块切面灰红灰黄，可见坏死和钙化灶，肿瘤细胞成乳头状结构排列，肿瘤细胞边界限清楚，细胞胞质丰富，细胞核圆行，染色质呈泡状，可见核仁，间质内可见沙砾体形成；免疫组化标记肿瘤细胞结果示：TFE3(+)，CD10(+)，CD117 (灶+)，CD68(-)，EMA(-)，HMB45(-)，Ki67（约5%+），P504s（+），P53（约10%+），RCC（-），Vimentin(-)；基因检测结果：t(X；17)(p11． 2；q23)染色体易位，形成CLTC-TFE3 融合基因。术后随访32个月，患者病情稳定，复查B超和CT 复查均未见肿瘤复发和转移。结论：Xp11.2 易位/TFE3 基因融合相关性肾癌无特异性临床表现，诊断主要依赖影像学检查、病理形态学特征、特异性标记物的免疫组化及基因检测；需与其他肾细胞癌鉴别；首选手术治疗，术后需要进行密切随访。

英文摘要:

Objective:To report a case with renal carcinoma associated with Xp11.2 translocation／TFE3 gene fusions and investigate the clinical and pathological features, diagnosis and differential diagnosis, treatment, and prognosis of this disease.Methods:A 7-year-old boy with painless gross hematuria was admitted in our hospital and the imaging and routine laboratory examination was performed. The patient was carried out right radical nephrectomy. And then the pathological and gene examination was checked and finally the patient was diagnosed renal carcinoma associated with Xp11.2 translocation／TFE3 gene fusions. Combined with related literature, the clinical and pathological features, diagnosis and treatment, and prognosis of this disease were analyzed.Results:The results ofB ultrasound and CT showed the right kidney substantial placeholder, and the enhanced CT did not prompt significant enhancement. It was diagnosed as right kidney tumor preoperative, and the nephron sparing surgery was hard to carry out and selected the radical nephrectomy. The lump was gray-red lumps with clear boundary, red-gray section, with necrosis and calcification and under microscopy it was detected that the tumor cells was arranged in papillary structures with delicate fibrovasculars, and the boundary of tumor cells was clear and arranged in a single layer or multiple layers of false, and abundant cytoplasm, cytoplasmic staining to bright light, nucleus round trip, vesicular chromatin, visible nucleoli, gravel body in the interstitial. The results of immunohistochemistry showed TFE3(+), CD10(+), CD117(+), CD68(-), EMA(-), HMB45(-), Ki67(5%+), P504s(+), P53(10%+), RCC(-), Vimentin(-). And the result of genetic test was t(X; 17)(p11.2; q23) Chromosomal translocations, with CLTC-TFE3 fusion gene forming. 32 months later after operation, ultrasound and computed tomography (CT) showed that there were no tumor recurrence and metastasis.Conclusion:The renal carcinoma associated with Xp11.2 translocation／TFE3 gene fusions has no specific clinical manifestations, and it is mainly diagnosed dependent on the pathological morphological features, immunohistochemistry and genetic test and identified with other renal cell carcinoma; and the surgical treatment is preferred for the treatment of this disease and the postoperative close follow-up should be performed.

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