Society management

US Multi-Society Task Force on CRC updates diagnosis and management of rare gastrointestinal syndromes

April 28, 2022

2 minute read


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Disclosures: The authors report no relevant financial information.


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The US multi-society colorectal cancer task force has released updated guidelines for the diagnosis, evaluation, and management of patients with gastrointestinal hamartomatous polyposis syndromes, with an emphasis on cancer risk.

“Gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant diseases associated with an increased risk of benign and malignant intestinal and extra-intestinal tumors”, Clement Richard Boland, MD, of the Division of Gastroenterology at the University of California, San Diego, School of Medicine, and colleagues wrote in the American Journal of Gastroenterology. “Nevertheless, considerable progress has been made in recent years, both in understanding the underlying genetics underlying these disorders and in elucidating the biology of associated precancerous and malignant conditions.”

With a focus on endoscopic management, the consensus statement assessed the current literature and summarized the clinical features of Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartoma tumor syndrome and hereditary mixed polyposis syndrome.

In people with hamartomatous polyps, researchers recommend genetic evaluation for patients with at least two lifetime polyps, a family history of polyps, or cancer associated with hamartomatous polyposis syndrome in first- or second-degree relatives. Multigene panel tests should be used.

Additional best practice recommendations include:

Peutz-Jeghers syndrome

Genetic evaluation is recommended for people with:

  • two or more histologically confirmed Peutz-Jeghers polyps
  • any number of polyps in addition to a family history of first-degree disease
  • characteristic mucocutaneous pigmentation in an individual with a family history of the disease
  • any number of polyps with the characteristic mucocutaneous pigmentation of Peutz-Jeghers syndrome

Other recommendations for the care of patients with Peutz-Jeghers syndrome include:

  • a multidisciplinary approach to breast, small intestine, colon, stomach, pancreas, ovarian, testicular and lung cancer surveillance
  • basic gastrointestinal endoscopy of the colon, stomach, and duodenum beginning between ages 8 and 10. Although the age to start colonoscopy and esophagogastroduodenoscopy remains uncertain, the tests should be done at the same time and repeated every 2 to 3 years in those with detected polyps or every 18 years in those without. no polyps initially.

Juvenile polyposis syndrome

Genetic evaluation should be performed when individuals have five or more juvenile polyps in the colon or rectum, two or more polyps in other parts of the gastrointestinal tract, or when a number of juvenile polyps are present with a family history first degree illness. Researchers recommend superior colonoscopic and endoscopic monitoring between 12 and 15 years of age with repeat monitoring every 1 to 3 years, depending on polyp load.

Patients with this syndrome are at increased risk of colon and stomach cancer.

PTEN hamartoma tumor syndrome

Multiple gastrointestinal hamartomas or ganglioneuromas should prompt genetic evaluation for Cowden syndrome and related conditions. Among patients with PTEN tumor syndrome, multidisciplinary surveillance for breast, thyroid, kidney, uterus, colon and skin cancers is recommended.

Colonoscopy monitoring should begin at age 35, which is 10 years younger than the age of any parent with CRC. Depending on the polyp load, individuals should repeat colonoscopy every 5 years or less.

“Hamartoma syndromes are rare, and it is difficult for individual institutions or even collaborative centers to accumulate enough cases and follow them prospectively long enough to develop strong conclusions about cancer risk,” they wrote. concluded Boland and his colleagues. “Modeling, simulation, and collaborative multicenter clinical studies can be used to help clarify the benefits and risks of various interventions and monitoring programs.”