MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome:A case report and review of literature  

作　　者：Xi-Wen Zhang Zan-Hui Jia Li-Ping Zhao Yi-Shi Wu Man-Hua Cui Yan Jia Tian-Min Xu 

机构地区：[1]Department of Gynecology,The Second Hospital of Jilin University,Changchun 130000,Jilin Province,China

出　　处：《World Journal of Clinical Cases》2022年第20期7105-7115,共11页世界临床病例杂志

基　　金：Supported by the Natural Science Fund of Science and Technology Department,Jilin,No.20180101010JC;Jilin Provincial Department of Education,No.JJKH20201049KJ.

摘　　要：BACKGROUND Lynch syndrome(LS)is an autosomal dominant hereditary disorder because of germline mutations in DNA mismatch repair genes,such as MutL homolog 1(MLH1),PMS1 homolog 2,MutS homolog 2,and MutS homolog 6.Gene mutations could make individuals and their families more susceptible to experiencing various malignant tumors.In Chinese,MLH1 germline mutation c.(453+1_454-1)_(545+1_546-1)del-related LS has been infrequently reported.Therefore,we report a rare LS patient with colorectal and endometrioid adenocarcinoma and describe her pedigree characteristics.CASE SUMMARY A 57-year-old female patient complained of irregular postmenopausal vaginal bleeding for 6 mo.She was diagnosed with LS,colonic malignancy,endometrioid adenocarcinoma,secondary fallopian tube malignancy,and intermyometrial leiomyomas.Then,she was treated by abdominal hysterectomy,bilateral oviduct oophorectomy,and sentinel lymph node resection.Genetic testing was performed using next-generation sequencing technology to detect the causative genetic mutations.Moreover,all her family members were offered a free genetic test,but no one accepted it.CONCLUSION No tumor relapse or metastasis was found in the patient during the 30-mo followup period.The genetic panel sequencing showed a novel pathogenic germline mutation in MLH1,c.(453+1_454-1)_(545+1_546-1)del,for LS.Moreover,cancer genetic counseling and testing are still in the initial development state in China,and maybe face numerous challenges in the further.

关 键 词：Lynch syndrome Colorectal cancer Endometrial cancer MLH1 gene Gene testing Case report 

分 类 号：R596.1[医药卫生—内科学] R440[医药卫生—临床医学]