The Screening and Analysis of Clinical Characteristics in Lynch Syndrome As-sociated Endometrial Carcinoma
10.3969/j.issn.1003-6946.2025.11.015
- VernacularTitle:林奇综合征相关性子宫内膜癌的筛查及临床特征分析
- Author:
Yuanyuan CHEN
1
;
Cui YU
1
;
Huanhuan ZHAO
1
;
Ningning SHI
1
;
Mengyu ZHANG
1
;
Li LI
1
Author Information
1. 河北医科大学第四医院妇科,河北 石家庄 050011
- Publication Type:Journal Article
- Keywords:
Endometrial carcinoma;
Mismatch repair protein deficiency;
Immunohistochemistry;
Lynch syn-drome;
Screening
- From:
Journal of Practical Obstetrics and Gynecology
2025;41(11):940-944
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To evaluate strategies for screening and diagnosing Lynch syndrome associated endom-etrial carcinoma(LS-EC)in clinical practice and analyze clinicopathological characteristics of LS-EC.Methods:A total of 258 patients with endometrial carcinoma who underwent surgery in The Fourth Hospital of Hebei Medical University from January 2019 to January 2022 were included.All enrolled patients underwent postoperative immu-nohistochemical testing for mismatch repair(MMR)proteins.Based on the expression status of the four MMR proteins,the patients were divided into deficient mismatch repair(d-MMR)group(57 cases)and proficient mis-match repair(p-MMR)group(201 cases).Among them,23 patients in the d-MMR group underwent germline gene testing for Lynch syndrome(LS).According to germline gene testing results,these patients were further classified into LS-EC(n=8)and non-LS-EC(n=15)groups.Clinicopathological features of LS-EC patients were analyzed.Results:Among the 258 endometrial carcinoma patients,57cases(22.1%)exhibited d-MMR,with MLH1 and PMS2 co-deletion being the most common(61.4%,35/57).Among the23 d-MMR patients who under-went genetic testing,8 cases(34.8%)were identified as having LS-EC,including 5 cases(62.5%)of MLH1 gene mutation,1 case(12.5%)of MSH2 gene mutation,1 case(12.5%)of PMS2 gene mutation and 1 case(12.5%)of MSH6 gene mutation.Compared with the non-LS-EC group,the LS-EC patients showed significant familial aggregation and higher pathological grade(P<0.05).Conclusions:Immunohistochemical analysis of MMR proteins combined with family history represents an effective screening strategy for LS-EC,however defini-tive diagnosis requires germline genetic testing.Among LS-EC cases,MLH1 is the most frequently mutated gene.LS-EC patients are characterized by familial clustering and high pathological grade.Discrepancies between immu-nohistochistochemistry and genetic testing results present challenges in the definitive diagnosis of LS-EC.
