Attenuated adenomatous polyposis with MSH6 variation: two case reports-Reference-Cited by-同舟云学术

Attenuated adenomatous polyposis with MSH6 variation: two case reports

Published:2023-06-26 Issue: Volume: Page:
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Author:

Kim Kyoung Min¹,Lee Min Ro²,Ahn Ae Ri¹,Chung Myoung Ja¹,Ha Gi Won²

Affiliation:

1. Departments of Pathology, Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, Biomedical Research Institute of Jeonbuk National Univers

2. Department of Surgery, Jeonbuk National University Medical School, Research Institute of Clinical Medicine of Jeonbuk National University, and Biomedical Research Institute of Jeonbuk National Univer

Abstract

Abstract Background: Adenomatous polyposis (AP) is a genetic disorder characterized by the occurrence of numerous adenomatous polyps in the colon and rectum and can be classified into classical AP (CAP) and attenuated AP (AAP). AAP is diagnosed when the number of observed adenomas is between 10 and 99. The detection of AAP is significantly increasing mainly due to the improvement of the imaging technique and application of the screening program for colorectal cancer detection. Currently, the germline variations of the APC and MUTYH genes are reported as the main cause of CAP. However, the underlying genetic basis of AAP is not well understood. In this study, we report two cases of AAP with MSH6 variations. Case reports: The two patients had multiple colon polyps and were diagnosed with AAP. The two received genetic consultation; and, for follow-up purposes, both patients agreed to be tested for an underlying genetic condition through next generation sequencing (NGS). Germline MSH6 variations were detected in both patients. Conclusion: Minor portion of AAP can cause by genetic mutation in MSH6, and further research is needed.

Publisher

Research Square Platform LLC

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