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.
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