Bethesda, Maryland (April 26, 2022) – Gastrointestinal hamartomatous polyposis syndromes are rare, hereditary disorders associated with an increased risk of colorectal cancer. The U.S. Multisociety Task Force on Colorectal Cancer has released new guidance for the diagnosis and management of patients with rare hamartomatous polyposis syndromes with a focus on endoscopic management.
Key takeaway: The U.S. Multisociety Task Force on Colorectal Cancer recommends patients with two or more lifetime hamartomatous polyps, a family history of hamartomatous polyps, or a cancer associated with a hamartomatous polyposis syndrome in first or second-degree relative undergo genetic evaluation. If the patient and doctor determine genetic testing is warranted, it should be performed using a multigene panel test.
“Each hamartoma syndrome presents a different cancer risk and requires a different surveillance approach, making genetic testing a critical tool in cancer prevention,” says lead author Dr. C. Richard Boland, University of California-San Diego School of Medicine. “By understanding a patient’s unique genetic makeup, we can craft personalized cancer surveillance plans to prevent cancer progression and save lives.”
The 14 recommendations in this new guidance document provide genetic evaluation guidance for patients with harmartomatous polyps as well as surveillance and treatment best practices. This new guidance is provided by the U.S. Multisociety Task Force on Colorectal Cancer, which is comprised of leading experts representing the American College of Gastroenterology (ACG), the American Gastroenterological Association (AGA) and the American Society for Gastrointestinal Endoscopy (ASGE).
For more information, review the full publication:
ABOUT HAMARTOMATOUS POLYPOSIS SYNDROMES
Gastrointestinal hamartomatous polyposis syndromes are rare, autosomal dominant disorders, meaning one mutated gene is inherited from one parent. These syndromes are associated with an increased risk of gastrointestinal and colonic polyposis, colon cancer, and other extraintestinal manifestations and cancers. Hamartomatous polyposis syndromes include Peutz-Jeghers syndrome, juvenile polyposis syndrome, the PTEN hamartoma tumor syndrome (including Cowden’s syndrome and Bannayan-Riley-Ruvalcaba syndrome), and hereditary mixed polyposis syndrome.
ABOUT COLORECTAL CANCER
Colorectal cancer, the second leading cause of cancer death in the U.S., is preventable when precancerous polyps are found and removed before they turn into cancer. With routine colorectal cancer screening, more than one-third of colorectal cancer deaths can be avoided. Screening for average-risk patients is recommended to begin at age 45, and earlier for patients with risk factors or family history. To learn more, access patient education from the GI societies: , and .
TASK FORCE MEMBERS
- C. Richard Boland, MD, University of California-San Diego School of Medicine, San Diego, California
- Gregory E. Idos, MD, MS, Center for Precision Medicine, City of Hope ³Ô¹ÏÍøÕ¾ Medical Center, Duarte, California
- Carol Dumo, MD, Sinai Health The Zane Cohen Centre for Digestive Diseases, The Mount Sinai Hospital, Toronto, Ontario
- Francis M. Giardiello, MD, The Johns Hopkins University School of Medicine, Baltimore, Maryland
- Jason A. Dominitz, MD, MHS, Veterans Affairs Puget Sound Health Care System, Seattle, Washington
- Seth Gross, MD, New York University Langone Health, New York, New York
- Brian C. Jacobson, MD, MPH, Massachusetts General Hospital, Boston, Massachusetts
- Swati G. Patel, MD, University of Colorado School of Medicine, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, Colorado
- Aasma Shaukat, MD, MPH, Minneapolis VA Health Care System, Minnesota
- Douglas J. Robertson, MD, MPH, Dartmouth Geisel School of Medicine, Hanover, New Hampshire
- Joseph C. Anderson, MD, MHCDS, Dartmouth Geisel School of Medicine, Hanover, New Hampshire
- Carol A. Burke, MD, Cleveland Clinic, Ohio
- Samir Gupta, MD, MSc, University of California San Diego
- Sapna Syngal, MD, MPH, Dana-Farber Cancer Institute, Boston, Massachusetts
The U.S. MSTF recommendations are published jointly in Gastroenterology, The American Journal of Gastroenterology, and Gastrointestinal Endoscopy.
About the AGA Institute
The American Gastroenterological Association is the trusted voice of the GI community. Founded in 1897, the AGA has grown to more than 16,000 members from around the globe who are involved in all aspects of the science, practice and advancement of gastroenterology. The AGA Institute administers the practice, research and educational programs of the organization. .
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