乳腺纤维上皮性肿瘤中TERT启动子突变的临床病理学意义

Clinicopathological significance of TERT promoter mutation in breast fibroepithelial tumors

目的探讨TERT启动子突变在乳腺纤维上皮性肿瘤鉴别诊断中的临床病理学意义。方法收集76例乳腺纤维上皮性肿瘤患者的临床及病理学资料;应用Sanger测序检测TERT启动子突变情况,采用免疫组化法检测Ki-67的表达,分析其临床病理学特征并复习相关文献。结果TERT启动子突变与患者年龄、肿瘤大小、间质细胞丰富程度、不典型性、核分裂象、Ki-67增殖指数等均相关;TERT启动子突变在乳腺纤维腺瘤中的发生率(11.6%,5/43)明显低于叶状肿瘤(48.5%,16/33)。结论TERT启动子突变与乳腺纤维上皮性肿瘤的临床病理特征密切相关,TERT启动子突变检测对乳腺纤维上皮性肿瘤的鉴别诊断具有重要意义。

Purpose To investigate the clinicopathological significance of TERT promoteRmutation in the differential diagnosis of breast fibroepithelial tumors.Methods Seventy-six cases of breast fibroepithelial tumoRwere collected,which had typical morphology and definite diagnosis.SangeRsequencing was performed to detect the mutation status of TERT promoter,and immunohistochemistry was performed to investigate the expression of Ki-67.Results TERT promoteRmutation was correlated with patient age,tumoRsize,stroma cellularity,atypia,mitotic figures,and Ki-67 index,etc.The incidence of TERT promoteRmutations in fibroadenomas(11.6%,5/43)was loweRthan that in phyllodes tumors(48.5%,16/33).Conclusion TERT promoteRmutation is closely related to the clinicopathological parameters of breast fibrous epithelial tumors,and TERT promoteRmutation detection is of great significance in the differential diagnosis of breast fibroepithelial tumors.