Chapter 47: Colon and Rectum- Polyposis Syndromes (PJ)

Question 1

What are the characteristics?

Answer 1

• Hamartomas throughout the GI tract
  
  • (jejunum/ileum > colon > stomach)

Question 2

What is the associated cancer risk from polyps?

Answer 2

Increased

Question 3

What is the associated cancer risk for women with Peutz–Jeghers’?

Answer 3

Ovarian cancer (granulosa cell tumor is most common)

Question 4

What is the inheritance pattern?

Answer 4

Autosomal dominant

Question 5

What are the other signs?

Answer 5

Melanotic pigmentation (black/brown) of buccal mucosa (mouth), lips, digits,palms, feet (soles)

Question 6

What is the treatment?

Answer 6

Removal of polyps if:

• symptomatic
  
  • bleeding
  • intussusception
  • obstruction)
• large (>1.5 cm)

Question 7

What are juvenile polyps?

Answer 7

Benign hamartomas in the small bowel and colon; not premalignant (a.k.a.“retention polyps”)

Question 8

What is Cronkhite–Canada syndrome?

Answer 8

• Diffuse GI hamartoma polyps
• no cancer potential
• associated with
  
  • malabsorption/weight loss
  • diarrhea
  • loss of electrolytes/protein
• signs include
  
  • alopecia
  • nail atrophy
  • skin pigmentation

Question 9

What is Turcot’s syndrome?

Answer 9

Colon polyps with malignant CNS tumors (glioblastoma multiforme)