Clinical Trials Study
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Jun 7, 2023; 29(21): 3302-3317
Published online Jun 7, 2023. doi: 10.3748/wjg.v29.i21.3302
Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients
Li-Xin Jiang, Yu-Rui Chen, Zu-Xin Xu, Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu
Li-Xin Jiang, Yu-Rui Chen, Air Force Clinical College of China Medical University, Beijing 100142, China
Zu-Xin Xu, Fifth Clinical College (Air Force Clinical College) of Anhui Medical University, Beijing 100142, China
Yu-Hui Zhang, Zhi Zhang, Peng-Fei Yu, Zhi-Wei Dong, Hai-Rui Yang, Guo-Li Gu, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Fifth Clinical (Air Force Clinical College) of China Medical University, Beijing 100142, China
Author contributions: Jiang LX, Chen YR, Xu ZX and Zhang YH contributed equally to this study; Gu GL designed the research; Jiang LX, Chen YR, Xu ZX, Zhang YH, Zhang Z, Yu PF, Dong ZW and Yang HR collected and analyzed the clinical data; Jiang LX, Chen YR and Xu ZX wrote the manuscript; Gu GL and Dong ZW revised the manuscript.
Supported by Beijing Capital Medical Development Research Fund, No. Shoufa2020-2-5122; Outstanding Young Talents Program of Air Force Medical Center, PLA, No. 22BJQN004; and Clinical Program of Air Force Medical University, No. Xiaoke2022-07.
Institutional review board statement: The study was reviewed and approved by the Air Force Medical Center, PLA, Institutional Review Board, No. 2020-105-PJ01, No. 2020-105-YJ01.
Clinical trial registration statement: This study is a special research project for the development of capital health which approved by the Beijing Municipal Health Commission in 2020. No further clinical trial registration has been conducted. Hereby declare.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Data sharing statement: No additional data are available.
CONSORT 2010 statement: The authors have read the CONSORT 2010 statement, and the manuscript was prepared and revised according to the CONSORT 2010 statement.
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: Guo-Li Gu, MM, Chief Doctor, Director, Department of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Air Force Clinical College of China Medical University, No. 30 Fucheng Road, Haidian District, Beijing 100142, China. kzggl@163.com
Received: January 20, 2023
Peer-review started: January 20, 2023
First decision: February 15, 2023
Revised: April 6, 2023
Accepted: May 4, 2023
Article in press: May 4, 2023
Published online: June 7, 2023
Processing time: 132 Days and 6.9 Hours
Abstract
BACKGROUND

Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation.

AIM

To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.

METHODS

A total of 92 patients with PJS admitted to the Air Force Medical Center from 2010 to 2022 were randomly selected for study. Genomic DNA samples were extracted from peripheral blood samples, and pathogenic germline mutations of STK11 were detected by high-throughput next-generation gene sequencing. Clinical-pathologic manifestations of patients with and without STK11/LKB1 mutations were compared.

RESULTS

STK11 germline mutations were observed in 73 patients with PJS. Among 19 patients with no detectable STK11 mutations, six had no pathogenic germline mutations of other genes, while 13 had other genetic mutations. Compared with PJS patients with STK11 mutations, those without tended to be older at the age of initial treatment, age of first intussusception and age of initial surgery. They also had a lower number of total hospitalizations relating to intussusception or intestinal obstruction, and a lower load of small intestine polyps.

CONCLUSION

PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.

Keywords: Peutz-Jeghers syndrome; STK11; Mutant type; Wild type

Core Tip: Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal (GI) multiple hamartoma polyps as clinical characteristics. At present, it is considered that the germline mutation of STK11 gene is the genetic cause of PJS. However, not all PJS patients can be detected STK11 germline mutations. The specific clinical characteristics of these PJS patients without STK11 mutation is an interesting clinical question. Or, like wild type GI stromal tumor, whether these PJS without STK11 mutation are also called PJS is worth discussing. Therefore, we designed the study to understand the clinical characteristics of these PJS patients without STK11 mutation. Final results found that PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.