子宫内膜癌分子分型与临床病理特征相关性研究OA

Objective To investigate the relationship between molecular typing and clinicopathological charac-teristics of endometrial carcinoma(EC),aiming to provide a basis for individualized treatment.Methods Clinical data of 114 EC cases were collected,and gene analysis was performed by NGS.According to the WHO(2020)classi-fication of female genital tract tumors,the molecular typing was classified into 4 subtypes:POLE ultramutated(POLE mut),mismatch repair deficiency(MMRd),no specific molecular profile(NSMP),and p53 abnormal(p53abn).Statistical analysis was performed to assess the correlation between different molecular subtypes and clinicopathologi-cal characteristics.Results Among the 114 EC patients,16(14.0%)were POLE mut,37(32.5%)were MMRd,37(32.5%)were NSMP,and 24(21.0%)were p53abn.For different pathological types,low-grade(G1+G2)EC was most commonly classified as NSMP and least as p53abn,with high-frequency gene mutations in PTEN,PIK3CA,and CTNNB1.High-grade(G3)EC and clear cell carcinoma were predominantly classified as MMRd and p53abn,ex-hibiting a higher mutation frequency of TP53.Clear cell carcinoma showed a broader mutation spectrum,including MSH6,POLE,and PTEN.Serous carcinoma and carcinosarcoma were all classified as p53abn.There were statisti-cally significant differences in histological grade(P<0.001),cervical stromal invasion(P=0.009),FIGO stage(P=0.031),and pathological type(P<0.001)among different subtypes of EC.Univariate Logistic regression analysis in-dicated that NSMP was positively correlated with low histological grade(OR=0.08,95%CI:0.02-0.36),early FIGO stage(OR=0.20,95%CI:0.04-0.93),and pathological type of endometrioid carcinoma(OR=14.4,95%CI:1.86-111.6);whereas p53abn was positively correlated with high histological grade(OR=10.4,95%CI:3.74-29.1),cer-vical stromal invasion(OR=11.6,95%CI:2.10-64.2),and pathological type of non-endometrioid carcinoma(OR=0.14,95%CI:0.05-0.39)(P<0.05).Multivariate Logistic regression model showed that p53abn was independently positively correlated with high histological grade(OR=5.61,95%CI:1.19-26.5)and cervical stromal invasion(OR=8.25,95%CI:1.18-57.5),indicating its malignant characteristics in EC progression.Conclusion The molecular typing of EC is significantly related to clinicopathological characteristics,and comprehensive evaluation is helpful for more accurate pathological diagnosis and clinical treatment.