Peutz-Jeghers syndrome

Background/Epidemiology

• 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

Presentation

• 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

Investigations/Management

• 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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