Peutz-Jeghers syndrome without STK11 mutation may correlate with less severe clinical manifestations in Chinese patients  

作　　者：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 

机构地区：[1]Air Force Clinical College of China Medical University,Beijing 100142,China [2]Fifth Clinical College(Air Force Clinical College)of Anhui Medical University,Beijing 100142,China [3]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

出　　处：《World Journal of Gastroenterology》2023年第21期3302-3317,共16页世界胃肠病学杂志（英文版）

基　　金：Beijing Capital Medical Development Research Fund, No. Shoufa2020-2-5122;Outstanding Young Talents Program of Air Force Medical Center, PLA, No. 22BJQN004;Clinical Program of Air Force Medical University, No. Xiaoke2022-07

摘　　要：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. Clinicalpathologic 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.

关 键 词：Peutz-Jeghers syndrome STK11 Mutant type Wild type 

分 类 号：R596.1[医药卫生—内科学]