Multi-Society Task Force Issues New Recommendations for Management of Hamartomatous Polyposis Syndromes

The hamartomatous polyposis syndromes include Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartoma tumor syndrome (Cowden’s and Bannayan-Riley-Ruvalcaba syndromes), and hereditary mixed polyposis syndrome. This document is a highly informative treatise on the topic. Some key recommendations from a new consensus statement released by the U.S. Multi-Society Task Force on Colorectal Cancer include:

Peutz-Jeghers syndrome (PJS)

• Test for STK11 in anyone with ≥2 confirmed Peutz-Jeghers (PJ) polyps, any PJ polyps and a family history of PJS in a first-degree relative (FDR), mucocutaneous pigmentation and a family history of PJS, or any PJ polyps and characteristic mucocutaneous pigmentation.
• Use a multidisciplinary approach because PJS requires screening for breast, small bowel, colon, stomach, pancreas, ovarian, testes, and lung cancers.
• Perform video capsule endoscopy or magnetic resonance enterography screening for small bowel polyps beginning at ages 8 to 10 years, or sooner if the patient is symptomatic. Repeat testing every 2 to 3 years if any polyps are detected, or resume testing at age 18 if there are no polyps at baseline testing.
• Complete EGD and colonoscopy every 2 to 3 years, depending on the polyp burden.
• Perform polypectomy when small bowel polyps are symptomatic or ≥10 mm to prevent intussusception and bleeding.
• Begin annual MRCP or EUS screening for pancreatic cancer at age 35.

Juvenile polyposis syndrome

• Sequence SMAD4 and BMPR1A if there are ≥5 juvenile polyps in the colon or rectum, ≥2 juvenile polyps in other GI sections, or any juvenile polyps and an FDR with JPS.
• Perform EGD and colonoscopy every 1 to 3 years, beginning at ages 12 to 15, with the interval depending on the polyp burden. 
• Screen patients with SMAD4 for hereditary hemorrhagic telangiectasia.

PTEN hamartoma tumor syndrome

• Screen for PTEN if there are multiple hamartomas or ganglioneuromas.
• Use a multidisciplinary approach because patients with this syndrome are at risk for breast, thyroid, kidney, uterus, colon, and skin cancers.
• Begin colonoscopy screening at age 35 or at the age 10 years younger than the youngest diagnosed relative, with an interval of 5 years or less, depending on the polyp burden.

Hereditary mixed polyposis syndrome

• Too few data are available to establish the best colonoscopy surveillance practice.