PEUTZ-JEGHERS SYNDROME

Question 1

Inheritance

Answer 1

Autosomal dominant

Question 2

Mutation

Answer 2

Germline mutation in the STK11 (LKB1 gene)

Question 3

Overview (6)

Answer 3

• Multiple hamartamous GI polyps (occur anywhere in the GI tract, develop in the first decade of life and most patients become symptomatic between the age of 10 and 30 years)
• Small intestinal polyps may bleed, obstruct, or cause intussusception
• Mucocutaneous pigmentation (melanin spots) on the lips and perioral region, palms of the hands, buccal mucosa, and soles of the feet
• Increased risk of gastrointestinal and extra-intestinal cancer (through adenomatous change in polyps)
• Most common sites of GI malignancy are the colon and pancreas
• Other cancers: breast, cervix, lung, ovary, and uterus

Question 4

Screening

Answer 4

Colonoscopy screening every 3 years starting at age 8