Use

Peutz-Jeghers syndrome is caused by mutations in the STK11 gene. It is associated with multiple Peutz-Jeghers type hamartomatous gastrointestinal polyps, mucocutaneous hyperpigmentation, and an increased risk for various cancers, primarily within the gastrointestinal tract. Genetic testing of STK11 is indicated for individuals with specific clinical presentations such as multiple PJS-type polyps, mucocutaneous pigmentation, or relevant family histories. Detection of a mutation in the STK11 gene can aid in confirming a diagnosis of Peutz-Jeghers syndrome, facilitating appropriate management and surveillance strategies.