摘要
目的探讨免疫组化联合二代测序对子宫内膜癌(EC)活检标本进行分子分型[EC前瞻性分子危险分类法(ProMisE)分子分型模型]的病理研究及临床应用价值。方法收集2022年1月至2023年12月期间中山市人民医院病理科经病理确诊的80例EC活检标本,采用ProMisE分子分型模型流程:错配修复(MMR)蛋白免疫组化(MLH1/PMS2/MSH2/MSH6)筛选MMR缺失型(MMR-d);DNA聚合酶ε催化亚基(POLE)基因外切酶域第二代测序鉴定POLE突变型;p53免疫组化区分p53异常型(p53 abn)和p53野生型(p53 wt)。检测ProMisE分子分型与临床病理特征的相关性。结果ProMisE分子分型的结果为MMR-d型23例(28.75%),POLE突变型12例(15.00%),p53 abn型14例(17.50%),p53 wt型31例(38.75%)。在63例子宫内膜样癌中,POLE突变型10例,MMR-d型18例,p53 abn型8例,p53 wt型27例;在9例浆液性癌中,POLE突变型2例,p53 abn型3例,p53 wt型4例;在5例透明细胞癌中,MMR-d型4例,p53 abn型1例;在3例其他类型中,p53 abn型2例(1例小细胞神经内分泌癌和1例癌肉瘤),MMR-d型1例(1例去分化EC)。EC不同ProMisE分子分型在肿瘤分期及病理分级上的分布差异具有统计学意义(P<0.05)。结论免疫组化联合二代测序的ProMisE分子分型能精准区分EC分子亚型,其与临床病理特征密切相关,可指导精准分层管理、辅助制定靶向治疗策略,具有重要的临床应用价值。
Objective To investigate the pathological study and clinical application value of immunohistochemistry combined with next-generation sequencing for molecular typing of endometrial carcinoma(EC)biopsy specimens[EC prospective molecular risk classification(ProMisE)molecular typing model].Methods A total of 80 EC biopsy specimens confirmed by pathology in the Department of Pathology,Zhongshan People's Hospital from January 2022 to December 2023 were collected.The ProMisE molecular typing model process:mismatch repair(MMR)protein immunohistochemistry(MLH1/PMS2/MSH2/MSH6)was used to screen MMR deletion type(MMR-d).The second-generation sequencing of the exonuclease domain of the catalytic subunit of DNA polymeraseε(POLE)gene was used to identify the POLE mutant type.P53 immunohistochemistry was used to distinguish between p53 abnormal type(p53 abn)and p53 wild type(p53 wt).The correlation between ProMisE molecular typing and clinicopathological features was detected.Results The results of ProMisE molecular typing were 23 cases of MMR-d type(28.75%),12 cases of POLE mutant type(15.00%),14 cases of p53 abn type(17.50%),and 31 cases of p53 wt type(38.75%).In 63 cases of endometrioid adenocarcinoma,there were 10 cases of POLE mutation type,18 cases of MMR-d type,8 cases of p53 abn type and 27 cases of p53 wt type.Among the 9 cases of serous carcinoma,there were 2 were of the POLE mutation,3 cases of p53 abn type and 4 cases of p53 wt type.There were 4 cases of MMR-d type and 1 case of p53 abn type in 5 cases of clear cell carcinoma.Among the 3 other types,2 cases were p53 abn type(1 case of small cell neuroendocrine carcinoma and 1 case of carcinosarcoma),and 1 case was MMR-d type(1 case of dedifferentiated EC).There were statistically significant differences in the distribution of different ProMisE molecular subtypes of EC in tumor staging and pathological grading(P<0.05).Conclusion ProMisE molecular typing combined with immunohistochemistry and second-generation sequencing can accurately distinguish EC molecular subtypes,which is closely related to the characteristics of clinical cases.It can guide accurate hierarchical management and assist in formulating targeted treatment strategies,and has important clinical application value.
作者
陈应智
储兵
孙世珺
何惠嫦
吴毅明
罗教秀
CHEN Yingzhi;CHU Bing;SUN Shijun(Department of Pathology,Zhongshan People's Hospital,Zhongshan,Guangdong 528403,China;不详)
出处
《医师在线》
2025年第12期12-16,共5页
Journal of Doctors Online
基金
中山市社会公益科技研究项目(220108214249310)。
关键词
子宫内膜癌
分子分型
ProMisE模型
免疫组化
病理特征
Endometrial carcinoma
Molecular typing
ProMisE model
Immunohistochemistry
Pathological features
