误诊为乳头状肾细胞癌的ALK重排肾细胞癌1例报告  

A rare case of ALK-rearranged renal cell carcinoma misdiagnosed initially as a papillary renal cell carcinoma

作　　者：王小京 陈小情 李爱玲 吴友莉 阎晓初 卞修武 段光杰 Wang Xiaojing;Chen Xiaoqing;Li Ailing;Wu Youli;Yan Xiaochu;Bian Xiuwu;Duan Guangjie(Department of Pathology,the First Affiliated Hospital,Army Medical University,Chongqing 400038,China)

机构地区：[1]陆军军医大学第一附属医院病理科,重庆400038

出　　处：《中华泌尿外科杂志》2025年第3期226-227,共2页Chinese Journal of Urology

基　　金：科技部国家重点研发计划(2021YFF1201005)。

摘　　要：ALK重排肾细胞癌(ALK-RCC)是第5版WHO泌尿和男性生殖器官肿瘤分类新纳入的一种分子定义的肾癌,非常罕见。因其临床症状无特异性,组织病理形态多样,准确诊断困难。本文报道1例形态和免疫表型均酷似乳头状肾细胞癌的ALK-RCC。患者根治术后组织标本经二代测序发现EML4-ALK基因融合,补做免疫组化染色ALK蛋白阳性才得以确诊。采用ALK抑制剂克唑替尼靶向治疗,随访17个月未见复发转移。Anaplastic lymphoma kinase(ALK)rearranged renal cell carcinoma(ALK-RCC)is an exceedingly rare malignancy,recently classified as a distinct molecular entity in the 5th edition of the WHO classification for urinary and male genital tumors.Due to its non-specific clinical symptoms and diverse histopathological patterns,accurate diagnosis is difficult.This paper reports a case of ALK-RCC with morphology and immunophenotype resembling papillary renal cell carcinoma.After second-generation sequencing,EML4-ALK gene fusion was found,and positive staining for ALK was confirmed by immunohistochemistry subsequently.Following informed consent from the patient,targeted therapy with crizotinib was initiated.During a 17-month follow-up period,no recurrence or metastasis was observed.

关 键 词：癌 肾细胞 间变性淋巴瘤激酶 诊断 

分 类 号：R737.11[医药卫生—肿瘤]