TFE3重排肾细胞癌16例临床病理特征及预后分析

Clinicopathological features and prognosis with TFE3-rearranged renal cell carcinoma:report of 16 cases

目的探讨TFE3重排肾细胞癌(TFE3 rRCC)患者的临床病理特征、免疫组织化学表型、荧光原位杂交、鉴别诊断及预后。方法收集并回顾性分析厦门大学附属第一医院已明确诊断的16例TFE3 rRCC的临床资料、病理学形态特征、免疫组织化学表型、荧光原位杂交的结果。结果患者中女性11例,男性5例,年龄为3~53岁;肿瘤直径3~20 cm。镜下均可见特征性的透明或嗜酸性瘤细胞排列成乳头状结构,伴不同比例的片状、巢状或腺泡样结构。16例TFE3均显示核阳性;13例均存在TFE3基因断裂信号。本组病例随访2~67个月,截止2024年1月仅有1例患者出现脑及新发骨转移病灶,1例患者出现腹部淋巴结转移,其余患者均为无病生存。结论TFE3重排肾细胞癌是一种罕见的恶性肿瘤,免疫组化标记TFE3及荧光原位杂交检测对诊断至关重要,手术为首选治疗,静脉癌栓、AJCC高分期及TFE3均是肿瘤复发的关键因素,目前靶向和免疫治疗尚处于临床试验阶段。

Objective To investigate the clinicopathologic features,immunohistochemical phenotypes,fluorescence in situ hybridization,differential diagnosis and prognosis of patients with TFE3-rearranged renal cell carcinoma(TFE3 rRCC).Methods Clinical data,pathomorphologic features,immunohistochemical phenotypes,and results of fluorescence in situ hybridization were collected and retrospectively analyzed in 16 cases of TFE3 rRCC that had been definitively diagnosed.Results Eleven of the patients were female and five were male,aged 3 to 53 years;the tumours ranged from 3 to 20 cm in diameter.Microscopically,all of them showed characteristic hyaline or eosinophilic tumour cells arranged in a papillary structure,accompanied by a varying proportion of lamellar,nesting or vesicular-like structures.All 16 cases showed nuclear positivity for TFE3;TFE3 gene breakage signals were present in all 13 cases.The cases in this group were followed up for 2 to 67 months.As of January 2024,only one patient showed brain and new bone metastases,and one patient showed abdominal lymph node metastases,while the rest of the patients were disease-free and survived.Conclusion TFE3 rearranged renal cell carcinoma is a rare malignant tumour,immunohistochemical labelling of TFE3 and fluorescence in situ hybridisation assay are essential for diagnosis,surgery is the treatment of choice;venous cancer embolism,AJCC high stage and TFE3 are all key factors for tumour recurrence,and targeted and immunotherapy are still in clinical trials.