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Peutz-Jeghers syndrome is an inherited condition, caused by a fault in the STK11 gene, that causes freckling of the lips and mouth and polyps in the bowel from childhood, and raises the risk of several cancers in adult life. Checks of the gut start at about eight years old, and removing large polyps prevents the bowel from telescoping into itself.
Autosomal dominant, caused by pathogenic variants in STK11 (LKB1), including whole-gene deletions. Hamartomatous polyps with broad bands of smooth muscle, mucocutaneous pigmentation, and intussusception: over 20% by age 10 and over 50% by 20 (AACR 2024). In a cohort of 419 patients the luminal gastrointestinal cancer risk was 1%, 9%, 15%, 33% and 57% at 30, 40, 50, 60 and 70 years (cited in BSG 2020); pancreatic and breast cancers are now among the commonest malignancies.
BSG 2020: upper endoscopy, colonoscopy and video capsule endoscopy from age 8 in people without symptoms, small bowel surveillance three-yearly; if the baseline is clear, colonoscopy and upper endoscopy can wait until 18; elective removal of small bowel polyps over 1.5 to 2 cm prevents intussusception. The AACR 2024 update adds teaching families the signs of intussusception, MR enterography where capsule endoscopy is not available, annual examination of growth, breast tissue and testicular volume in boys (large-cell calcifying Sertoli cell tumours in about 9%) and pelvic ultrasound in girls with early puberty (sex cord tumours with annular tubules in 10 to 20%), and adult screening for breast, gynaecological, pancreatic and lung cancers from 25 or later. The CAPS consortium (2020) recommends pancreatic surveillance for every Peutz-Jeghers patient regardless of family history, starting at 40.
In plain words · STK11 is a protein kinase, an enzyme that switches other proteins on by adding phosphate groups. The public catalogues list it as a drug target, an oncogene driver, a tumour suppressor, a biomarker and a DNA repair gene, and clinical evidence ties its variants to diagnosis, prognosis or drug response.
Showing the target this term concerns: STK11.
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