Published online Jun 7, 2023. doi: 10.3748/wjg.v29.i21.3302
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
Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease with skin mucosal pigment spots and gastrointestinal 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 gastrointestinal stromal tumor (GIST), 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.
To investigates whether PJS patients with known STK11 mutations have a more severe spectrum of clinical phenotypes compared to those without.
The general information, diagnosis and treatment history, pathology, times of examination and other clinical data of the 92 enrolled PJS patients were collected for statistical analysis. 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.
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. Final results found that PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
PJS patients without STK11 mutations might have less severe clinical-pathologic manifestations than those with.
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 GIST, whether these PJS without STK11 mutation are also called PJS is worth discussing.