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

Tetsuya Ito; Hideyuki Ishida; Okihide Suzuki; Noriyasu Chika; Kunihiko Amano; Keiichiro Ishibashi; Nao Kamae; Yuhki Tada; Kiwamu Akagi; Hidetaka Eguchi; Yasushi Okazaki

doi:10.23922/jarc.2020-026

Original Research Article

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

Tetsuya Ito, Hideyuki Ishida, Okihide Suzuki, Noriyasu Chika, Kunihiko Amano, Keiichiro Ishibashi, Nao Kamae, Yuhki Tada, Kiwamu Akagi, Hidetaka Eguchi, Yasushi Okazaki

Author information

Tetsuya Ito
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Hideyuki Ishida
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Okihide Suzuki
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Department of Clinical Genomics, Saitama Medical Center, Saitama Medical University
Noriyasu Chika
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Kunihiko Amano
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Keiichiro Ishibashi
Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University
Nao Kamae
Department of Clinical Genomics, Saitama Medical Center, Saitama Medical University
Yuhki Tada
Division of Translational Research, Research Center for Genomic Medicine, Saitama Medical University
Kiwamu Akagi
Division of Molecular Diagnosis and Cancer Prevention, Saitama Cancer Center
Hidetaka Eguchi
Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine
Yasushi Okazaki
Diagnosis and Therapeutics of Intractable Disease, Juntendo University Graduate School of Medicine

Keywords: small-bowel carcinoma, DNA mismatch repair, Lynch syndrome, microsatellite instability, universal tumor screening

JOURNAL OPEN ACCESS

2020 Volume 4 Issue 4 Pages 165-173

DOI https://doi.org/10.23922/jarc.2020-026

Details

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 MSH2 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.

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