Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jul 16, 2022; 10(20): 7105-7115
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.7105
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
Xi-Wen Zhang, Zan-Hui Jia, Li-Ping Zhao, Yi-Shi Wu, Man-Hua Cui, Yan Jia, Tian-Min Xu
Xi-Wen Zhang, Zan-Hui Jia, Li-Ping Zhao, Yi-Shi Wu, Man-Hua Cui, Yan Jia, Tian-Min Xu, Department of Gynecology, The Second Hospital of Jilin University, Changchun 130000, Jilin Province, China
Author contributions: Zhang XW, Jia ZH, and Zhao LP were the patient’s gynecologic surgeons, reviewed the literature, and contributed to manuscript drafting; Wu YS, Xu TM, and Jia Y were responsible for the revision of the manuscript for important intellectual content; Cui MH analyzed and interpreted the imaging findings; all authors issued final approval for the version to be submitted.
Supported by the Natural Science Fund of Science and Technology Department, Jilin, No. 20180101010JC; Jilin Provincial Department of Education, No. JJKH20201049KJ.
Informed consent statement: The approval for using the medical records for retrospective studies of this case study was provided by the Ethics Committee of the Second Hospital of Jilin University (2021. No.197). The patient signed an informed consent form.
Conflict-of-interest statement: The authors declare no conflict of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Man-Hua Cui, MD, PhD, Chief Doctor, Department of Gynecology, The Second Hospital of Jilin University, No. 218 Ziqiang Road, Changchun 130000, Jilin Province, China. cuimh@jlu.edu.cn
Received: December 18, 2021
Peer-review started: December 18, 2021
First decision: January 25, 2022
Revised: February 4, 2022
Accepted: May 27, 2022
Article in press: May 27, 2022
Published online: July 16, 2022
Processing time: 198 Days and 11.5 Hours
Abstract
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 follow-up 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.

Keywords: Lynch syndrome; Colorectal cancer; Endometrial cancer; MLH1 gene; Gene testing; Case report

Core Tip: Lynch syndrome (LS) is an autosomal dominant hereditary disorder because of germline mutations in DNA mismatch repair genes, such as MutL homolog 1 (MLH1) gene, PMS1 homolog 2 gene, MutS homolog 2 gene, and MutS homolog 6 gene, which make the patient more susceptible to other malignancies. In Chinese, MLH1 germline mutation c.(453+1_454-1)_(545+1_546-1)del-induced LS has been infrequently reported. In this paper, we report a rare LS patient with colorectal and endometrioid adenocarcinoma. The genetic panel sequencing showed a novel pathogenic germline mutation in MLH1, c.(453+1_454-1)_(545+1_546-1)del, for LS.