Substantial Risk of Advanced Adenomas but No Colorectal Cancer in a Cohort of Patients With CDH1 Mutations
Douglas K. Rex, MD, MASGE, reviewing Stanich PP, et al. Am J Gastroenterol 2022 Sep 6.
CDH1 mutations are associated with a very high risk of gastric cancer, early age of onset of gastric cancer, and a high risk of breast cancer in women.
It is unclear whether the risk of colorectal cancer (CRC) is increased with CDH1 mutations. Screening colonoscopy studies are hard to perform in this group because of the rare incidence of CDH1 mutations.
In a multicenter cohort of 85 patients, mean age 46.9 years, who underwent colonoscopy, 35.3% had ≥1 adenoma, 10.6% had advanced adenomas, and 5.9% had sessile serrated lesions. Among 33 patients younger than age 45 years, 2 (6.1%) had advanced adenomas at ages 23 and 44, compared with 13.5% of patients aged 45 years or older who had advanced adenomas.
COMMENTCDH1 mutations are rare, and patients with these mutations are typically headed for gastrectomy when identified. Given that, my tendency is to perform a colonoscopy, regardless of their age. However, the results from this small cohort are reassuring with regard to cancer. Based on the data presented here, there is an argument to be made for taking a more conservative approach and starting screening at routine ages, but I’ll continue to offer colonoscopy to most of these patients.
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)
Stanich PP, Elgindi D, Stoffel E, et al. Colorectal neoplasia in CDH1 pathogenic variant carriers: a multi-center analysis. Am J Gastroenterol 2022 Sep 6. (Epub ahead of print) (https://doi.org/10.14309/ajg.0000000000001996)
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