Joint webinar with NASPGHAN: Constitutional mismatch repair deficiency syndrome

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Our third webinar of the 2023 series was done in partnership with the North American Society for Pediatric Gastroenterology, Hepatology & Nutrition (NASPGHAN) covering Constitutional Mismatch Repair Deficiency Syndrome (CMMRD) current diagnosis criteria, surveillance recommendations, and challenges. This rare condition is impactful for families with Lynch syndrome across many generations and ages, with a tumour spectrum that is continuously expanding.

We had the pleasure of having Carol Durno, MD, FRCPC, and Melyssa Aronson, MS, (C) CGC present the importance of effective surveillance strategies, with pertinent examples such as improved survival in pediatric patients. We explored the current approaches for diagnosing CMMRD, emphasizing phenotypes that overlap with other tumor syndromes, including neurofibromatosis and other hereditary colorectal and polyposis conditions. One important take-home message is the global effort being done by the International Replication Repair Deficiency Consortium to raise awareness for CMMRD: for such an underdiagnosed syndrome, clinical awareness of its associated phenotypes is crucial to identify new cases.

For additional information on CMMRD, check out our recent tweetorial on a featured JCO article!

We hope you enjoyed this session, and the productive discussion. Please stay tuned for the next CGA-IGC webinar!

Many thanks to our fantastic moderators and speakers for their time!

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