GASTROENTEROLOGY ARTICLE OF THE WEEK
April 5, 2007
Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol 2006;4:408-15
1. Criteria to diagnose PJ syndrome include hamartomatous polyps and at least two of the following
a. dermal cysts
b. melanin deposits in lips or buccal mucosa
c. family history of the syndrome
d. colonic adenomas
e. gastric cancer
2. The genetic defect in PJS
a. affects the STK11/LKB1 gene
b. Has a high penetrance
c. Is present in over 90% of sporadic cases
d. Assays to detect the mutation are currently commercially available
3. Gastrointestinal malignancies that are increased in prevalence among PJS patients include:
a. gastric cancer
b. esophageal cancer
c. cholangiocarcinoma
d. hepatocellular carcinoma
e. pancreatic cancer
f. colon and small bowel cancer
4. The most common presenting symptom/sign of PJS is
a. GI bleeding
b. intestinal obstruction
c. abdominal pain
d. melanin pigment in the lips and buccal mucosa
5. Indications for polypectomy or surgery include
a. Polyps in the stomach or colon of any size
b. Gastric or colon polyps over 1cm
c. Small bowel polyps over 1-1.5cm
d. Removal of all small bowel polyps if laparatomy is done
True or False
6. PJ syndrome is inherited in an autosomal recessive fashion
7. PJS is more common in males
8. Colonoscopy surveillance should start at age 18 and be repeated every 2-3 years.
9. Small bowel polyps must be present for the diagnosis of PJS to be established
10. Screening for pancreatic cancer after age 25 is recommended, the modality to use for screening is controversial, EUS is best
11. Lifetime risk for any cancer in PJS patients is over 90%
12. Mean age of diagnosis for breast cancer in PJS is 37 years, annual mammograms starting at age 25 is recommended
13. EGD for gastric cancer surveillance should start at age 18 after baseline endoscopy at age 8. EGD should be repeated every 2-3 years.