Peutz-Jeghers syndrome


  • Autosomal dominant disorder with a high penetrance
    • Most caused by mutations of the serine/threonine kinase STK11 (LKB1) on chromosome 19 (19p13.3)
  • Estimated prevalence is ~1 in 50,000
  • Characterised by mucocutaneous pigmentation and multiple intestinal hamartomatous polyps
  • Increased risk of GI cancers (including pancreatic) as well as other cancers e.g. breast, thyroid, lung, uterine, sertoli cell testicular tumours etc


  • Patients will often be asymptomatic but have a family history
  • Characteristic deeply pigmented lesions on the lips and buccal mucosa
    • Occasionally found on the palms/soles also and around the anus/genitalia
    • Often more prominent in childhood
  • May present in childhood/infancy with repeated episodes of abdominal pain
    • Due to obstruction or intussusception
      • may have associated features e.g. vomiting, constipation


  • Genetic testing is rarely useful (multiple possible genetic causes)
  • Most patients require regular endoscopic investigations and removal of polyps, as well as regular imaging of the pancreas/GI tract to exclude malignancy.
    • Screening for other associated malignancies in these patients should be offered
      • e.g. early breast screening, regular cervical screening, testicular examination etc
  • Asymptomatic first-degree relatives should also be offered screening investigations

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