U.S. Multi-Society Task Force on CRC updates diagnosis, management of rare GI syndromes
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The U.S. Multi-Society Task Force on colorectal cancer published updated guidance for the diagnosis, assessment and management of patients with gastrointestinal hamartomatous polyposis syndromes, with a focus on cancer risk.
“The gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders associated with an increased risk of benign and malignant intestinal and extraintestinal 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, there has been tremendous progress in recent years, both in understanding the underlying genetics that underpin these disorders and in elucidating the biology of associated premalignant and malignant conditions.”
With a focus on endoscopic management, the consensus statement assessed current literature and summarized clinical features of Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartoma tumor syndrome and hereditary mixed polyposis syndrome.
In individuals with hamartomatous polyps, researchers recommend genetic evaluation for patients with two or more lifetime polyps, a family history of polyps or a cancer associated with a hamartomatous polyposis syndrome in first- or second-degree relatives. Multigene panel testing should be used.
Additional recommendations of best practice include:
Peutz-Jeghers syndrome
Genetic evaluation is recommended among individuals with:
- two or more histologically confirmed Peutz-Jeghers polyps
- any number of polyps in addition to first-degree family history of disease
- characteristic mucocutaneous pigmentation in an individual with family history of disease
- any number of polyps with the characteristic mucocutaneous pigmentation of Peutz-Jeghers syndrome
Further recommendations for the care of patients with Peutz-Jeghers syndrome include:
- a multidisciplinary approach to cancer surveillance of the breast, small bowel, colon, stomach, pancreas, ovaries, testes and lungs
- baseline upper GI endoscopy of the colon, stomach and duodenum beginning between ages 8 to 10 years. Although the age to initiate colonoscopy and esophagogastroduodenoscopy remains uncertain, tests should be performed at the same time and repeated every 2 to 3 years among those with detected polyps or every 18 years among those with no polyps at baseline.
Juvenile Polyposis Syndrome
Genetic evaluation should be performed when individuals have five or more juvenile polyps of the colon or rectum, two or more polyps in other parts of the GI tract or when any number of juvenile polyps are present with first-degree family history of disease. Researchers recommend colonoscopic and upper endoscopic surveillance between ages 12 to 15 years with repeated surveillance every 1 to 3 years, depending on polyp burden.
Patients with this syndrome are at an increased risk for cancer of the colon and stomach.
PTEN hamartoma tumor syndrome
Multiple GI hamartomas or ganglioneuromas should prompt genetic evaluation for Cowden’s syndrome and related conditions. Among patients with PTEN tumor syndrome, multidisciplinary cancer surveillance of the breast, thyroid, kidney, uterus, colon and skin is recommended.
Colonoscopy surveillance should begin at age 35 years, or 10 years younger than the age of any relative with CRC. Depending on polyp burden, individuals should repeat colonoscopy every 5 years or less.
“The hamartoma syndromes are rare, and it is difficult for single institutions or even collaborative centers to accumulate enough cases and follow them prospectively long enough to develop robust conclusions about cancer risk,” Boland and colleagues concluded. “Modeling, simulation and collaborative multicenter clinical studies can be used to help clarify the benefits and risks of various interventions and surveillance programs.”
Perspective
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While these syndromes are rare, they have childhood onset and are associated with cumulative lifetime risk for intestinal and non-intestinal cancers. The recommendations by the U.S. Multi-Society Task Force provide important guidance to a variety of specialists, including pediatricians, pediatric and adult gastroenterologists, surgeons, oncologists and pathologists.
Gastroenterologists are often the first health care touchpoint for these patients, as the polyposis results in a variety of early-onset signs and symptoms within the gastrointestinal tract. With proactive diagnosis and endoscopic surveillance and polypectomy, complications may be attenuated or obviated, and other at-risk relatives can be diagnosed and managed accordingly.
The consensus statement is comprehensive and summarizes literature on the clinical features and cancer risks. It provides guidance for clinicians regarding molecular genetics of these disorders, approach to patient diagnosis and, importantly, the suggested management of individuals with these syndromes.
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