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

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

Douglas K. Rex, MD, MASGE, reviewing Boland CR, et al. Gastrointest Endosc 2022 Apr 26.

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.

Douglas K. Rex, MD, FASGE

COMMENT

This document is a tour de force for anyone interested in the best management of hamartomatous polyposis syndromes.

Note to readers: At the time we reviewed this paper, its publisher noted that it was not in final form and that subsequent changes might be made.

CITATION(S)

Boland CR, Idos GE, Durno C, et al. Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Gastrointest Endosc 2022 Apr 26.. (Epub ahead of print) (https://doi.org/10.1053/j.gastro.2022.02.021)

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