Prevalence and Molecular Characterization of Defective DNA Mismatch Repair in Small-bowel Carcinoma in a Japanese Hospital-based Population

Overview

Journal J Anus Rectum Colon

Specialty General Surgery

Date 2020 Nov 2

PMID 33134597

Citations 2

Authors

Tetsuya Ito

Hideyuki Ishida

Okihide Suzuki

Noriyasu Chika

Kunihiko Amano

Keiichiro Ishibashi

Nao Kamae

Yuhki Tada

Kiwamu Akagi

Hidetaka Eguchi

Yasushi Okazaki

Affiliations

Soon will be listed here.

Abstract

Objectives: To investigate the prevalence and molecular characteristics of defective DNA mismatch repair (dMMR) in small-bowel carcinoma (SBC) in a Japanese-hospital population.

Methods: Immunohistochemistry was performed to evaluate the expression of MMR proteins (MLH1, MSH2, MSH6, and PMS2) in formalin-fixed paraffin-embedded sections prepared from surgically resected primary SBCs from 30 patients during March 2002 to March 2017. Genetic testing for Lynch syndrome was performed in patients who demonstrated MMR protein loss.

Results: Two of 30 patients (6.7%) demonstrated concomitant loss of MSH2/MSH6 protein expression. Further genetic testing identified a pathogenic variant in one of these patients.

Conclusions: The prevalence of dMMR SBCs in a Japanese hospital-based population seems lower than that reported in previous studies. To determine whether dMMR SBCs might be strongly linked to Lynch syndrome, there is a need for further investigation with a larger sample size.

Citing Articles

Incidence and molecular characteristics of deficient mismatch repair conditions across nine different tumors and identification of germline variants involved in Lynch-like syndrome.

Ito T, Yamaguchi T, Kumamoto K, Suzuki O, Chika N, Kawakami S Int J Clin Oncol. 2024; 29(7):953-963.

PMID: 38615286 PMC: 11196295. DOI: 10.1007/s10147-024-02518-y.

Identification of Lynch syndrome-associated DNA mismatch repair-deficient bladder cancer in a Japanese hospital-based population.

Kagawa M, Kawakami S, Yamamoto A, Suzuki O, Kamae N, Eguchi H Int J Clin Oncol. 2021; 26(8):1524-1532.

PMID: 34213665 DOI: 10.1007/s10147-021-01922-y.

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