Basic Study
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Apr 28, 2020; 26(16): 1926-1937
Published online Apr 28, 2020. doi: 10.3748/wjg.v26.i16.1926
Mutation analysis of related genes in hamartoma polyp tissue of Peutz-Jeghers syndrome
Zhi Zhang, Fu-Xiao Duan, Guo-Li Gu, Peng-Fei Yu
Zhi Zhang, Air Force Clinical College (Air Force Medical Center) of Anhui Medical University, Beijing 100142, China
Fu-Xiao Duan, Department of General Surgery, the General Hospital of Northern Theater Command PLA, Shenyang 110016, Liaoning Province, China
Guo-Li Gu, Peng-Fei Yu, Department of General Surgery, Air Force Medical Center, PLA, Beijing 100142, China
Author contributions: Zhang Z and Duan FX contributed equally to this study. Gu GL designed the research; Zhang Z, Duan FX and Yu PF collected and analyzed the clinical data; Zhang Z, Duan FX and Gu GL wrote the manuscript; Gu GL revised the manuscript.
Supported by Major Projects of the Chinese PLA "Thirteenth Five-Year Plan" Logistics Research Subject, No. AKJ15J003 and No. AKJ15J001; Incubation Project of Military Medical Science and Technology Youth Cultivation Program, No. 17QNP023; and Beijing Capital Medical Development Research Fund, No. Shoufa2020-2-5122.
Institutional review board statement: The Air Force Medical Center Ethics Committee reviewed and approved the study.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
Data sharing statement: No additional data are available.
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:
Corresponding author: Guo-Li Gu, MD, MSc, Associate Professor, Chief Doctor, Department of General Surgery, Air Force Medical Center, PLA, No. 30 Fucheng Road, Haidian District, Beijing 100142, China.
Received: January 18, 2020
Peer-review started: January 18, 2020
First decision: February 27, 2020
Revised: February 29, 2020
Accepted: April 4, 2020
Article in press: April 4, 2020
Published online: April 28, 2020
Core Tip

Core tip: Peutz-Jeghers syndrome (PJS) is currently considered an autosomal dominant inherited disease caused by germline mutations of the LKB1/STK11 gene. Gastrointestinal hamartoma polyps are one of the most common clinical manifestations. In order to investigate the mutation status of these familiar genetically-related genes in PJS hamartoma polyp tissues, high-throughput sequencing was used to analyze the mutations of related genes in PJS hamartoma polyps. In addition, the relationships between the mutation status and the clinical pathological data of PJS are discussed.