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AGA Recommends Testing for Lynch Syndrome in All Patients With CRC
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The AGA announced a new guideline on the diagnosis and management of Lynch syndrome, which recommends that all patients with colorectal cancer should be tested for the hereditary condition.
“Approximately 50,000 Americans are expected to die from [CRC] this year, and hereditary syndromes account for a small, but important fraction of those diagnoses,” Joel H. Rubenstein, MD, AGAF, research scientist at the Veterans Affairs Center for Clinical Management Research and associate professor, division of gastroenterology at the University of Michigan Medical School, said in a press release. “The majority of patients with Lynch syndrome are unaware that they have the syndrome. The AGA recommendation for tumor testing in all newly diagnosed cases of [CRC] to identify Lynch syndrome could be considered as a process measure to ensure that patients are receiving the highest quality of care.”
The guideline was developed by the AGA Clinical Guidelines Committee using Grading of Recommendations Assessment, Development and Evaluation, or GRADE, methodology and Institute of Medicine best practices, and focuses on identifying Lynch syndrome and managing CRC risk. The guideline’s main recommendations include:
- Risk prediction modeling, rather than doing nothing or proceeding directly to germline genetic testing, is suggested for patients with a family history suggestive of Lynch syndrome but no personal history of colorectal or other cancers.
- Tumor testing with immunohistochemistry (IHC) or for microsatellite instability is strongly recommended for all patients with CRC.
- Tumor testing for BRAF mutation or hypermethylation of the MLH1 promoter, rather than proceeding directly to germline genetic testing, is suggested for patients with CRC with IHC absent for MLH1 (about 75% of these patients will have sporadic cancers rather than Lynch syndrome).
- Surveillance colonoscopy, rather than doing nothing, is strongly recommended for patients with Lynch syndrome, and surveillance intervals of 1 to 2 years rather than less frequent intervals are suggested.
- Offering aspirin for cancer prevention in patients with Lynch syndrome is suggested.
“The AGA Clinical Guidelines Committee will continue to monitor the field and consider updating the guideline as needed,” the authors concluded. Besides several areas that warrant future research, “given the large incidence of colorectal cancer, one recommendation in particular may be ripe for consideration as a process measure of quality of care: tumor testing in newly diagnosed cases of colorectal cancer to identify cases of Lynch syndrome,” they wrote.
A technical review, a clinical decision support tool and a patient guide were released along with the guideline, according to the press release. – by Adam Leitenberger
Disclosure: The researchers report no relevant financial disclosures.
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