Basic Study
Copyright ©The Author(s) 2024. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Oncol. Apr 15, 2024; 16(4): 1532-1546
Published online Apr 15, 2024. doi: 10.4251/wjgo.v16.i4.1532
Two missense STK11 gene variations impaired LKB1/adenosine monophosphate-activated protein kinase signaling in Peutz-Jeghers syndrome
Jin Liu, Si-Cong Zeng, An Wang, Hai-Ying Cheng, Qian-Jun Zhang, Guang-Xiu Lu
Jin Liu, Si-Cong Zeng, An Wang, Hai-Ying Cheng, Qian-Jun Zhang, Guang-Xiu Lu, Hunan Guangxiu Hospital, Hunan Normal University, Changsha 410000, Hunan Province, China
Jin Liu, Si-Cong Zeng, Scientific Research Department, Reproductive and Genetic Hospital of Citic-Xiangya, Changsha 410000, Hunan Province, China
Author contributions: Liu J contributed to drafting of the manuscript; Wang A and Cheng HY contributed to clinical polyp treatment; Zeng SC and Zhang QJ contributed to experiments and analysis; Lu GX contributed to critical revision of the manuscript for important intellectual content; all authors read and approved the final manuscript.
Supported by the Natural Science Foundation of Hunan Province, China, No. 2023JJ30422.
Institutional review board statement: The study was reviewed and approved by the Ethics Committee of the Reproduction and Genetics Hospital of CITIC-Xiangya [Approval No. LL-SC-2016(008)].
Conflict-of-interest statement: All authors declared no conflicts of interest to disclose.
Data sharing statement: The data that support the findings of this study are available from the corresponding author upon reasonable request.
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: Guang-Xiu Lu, PhD, Doctor, Professor, Hunan Guangxiu Hospital, Hunan Normal University, No. 8 Luyun Road, Yuelu District, Changsha 410000, Hunan Province, China. lugxdirector@aliyun.com
Received: December 5, 2023
Peer-review started: December 5, 2023
First decision: December 14, 2023
Revised: December 29, 2023
Accepted: February 3, 2024
Article in press: February 3, 2024
Published online: April 15, 2024
Processing time: 127 Days and 10.4 Hours
Core Tip

Core Tip: These two missense variants, STK11 c.889A>G (p.Arg297Gly) and STK11 c.733C>T (p.Leu245Phe), have been found to contribute to the development of Peutz-Jeghers syndrome (PJS) by impairing the STK11/adenosine monophosphate-activated protein kinase signaling pathway. It clarifies that these two germline variants, STK11 c.889A>G (p.Arg297Gly) and STK11 c.733C>T (p.Leu245Phe), are likely pathogenic mutations, providing valuable information for fertility selection in patients with PJS.