首页|尿路上皮癌FGFR基因变异初探

尿路上皮癌FGFR基因变异初探

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目的 探讨尿路上皮癌(UC)成纤维细胞生长因子受体(FGFR)基因变异特征,为筛选潜在获益于FGFR抑制剂的目标人群和制定检测策略提供参考.方法 收集40例存档的甲醛固定石蜡包埋的尿路上皮癌组织标本,采用新一代测序技术分析FGFR基因变异.结果 在40例尿路上皮癌样本中检出FGFR基因变异10例(25.0%,10/40),包括 FGFR2 M538I 突变 1 例、FGFR3 S249C 突变 4 例、FGFR3 R248C 突变 2 例、FGFR3 Y373C 突变 1 例、FGFR3 G548R突变1例及FGFR3 Y373C/FGFR4 K186M双突变1例.其中G548R和K186M突变未见报道.结论 尿路上皮癌患者中存在特殊的FGFR变异位点,生物学意义待明确,有必要扩大样本量进一步研究.
Fibroblast growth factor receptor gene alterations in urothelial carcinoma:a preliminary study
Objective To investigate fibroblast growth factor receptor(FGFR)gene alteration in urothelial carcinoma(UC)patients which will contribute to identifying beneficiaries from FGFR inhibitors and develop gene detection strate-gies.Methods Total 40 formalin-fixed paraffin-embedded tissue samples from urothelial carcinoma were analyzed for FGFR gene abnormality using next generation sequencing.Results FGFR gene mutations were found in 10 of 40 cases(25.0%),including 1 FGFR2 M538I,4 FGFR3 S249C,2 FGFR3 R248C,1 FGFR3 Y373C,1 FGFR3 G548R and 1 FGFR3 Y373C/FGFR4 K186M double mutation cases.Among FGFR-mutant tumors,UC with G548R or K186M mutation had not been reported to date.Conclusion Urothelial carcinoma harbores rare FGFR variants,which epidemiology and biological significance needs to be elucidated and further explored in a larger study cohort.

Urothelial carcinomaFGFRGenesMutationNGS

孙铭晨、武莎斐、蔡宇梦、刘媛媛、李凯咪、曾玲丽、赵大春、曾瑄

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中国医学科学院北京协和医学院北京协和医院病理科,北京 100730

尿路上皮癌 FGFR 基因 突变 NGS

中央高水平医院临床科研业务费北京市希思科临床肿瘤学研究基金中国医学科学院中央级公益性科研院所基本科研业务费专项资金

2022-PUMCH-B-063Y-2022HER2AZMS-03752022RW32007

2024

诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
年,卷(期):2024.31(8)