Polygenic early‐onset colorectal cancer in pediatric patients

C Phen, D Berens, K Moriarty, K Ng… - Pediatric Blood & …, 2022 - Wiley Online Library
C Phen, D Berens, K Moriarty, K Ng, A Sengupta, I Rojas
Pediatric Blood & Cancer, 2022Wiley Online Library
Colorectal cancer in the pediatric population is a rare but transpirable phenomenon. The
occurrence should prompt suspicion for underlying genetic mutations in the setting of a
hereditary cancer predisposition syndrome. In this series, we outline three pediatric patients
with colonic adenocarcinoma who were found to have one or more germline mutations. The
presence of compound mutations may lead to a hypermutator phenotype resulting in earlier
presentation of colorectal cancer in childhood and adolescence. The diagnosis of colorectal …
Abstract
Colorectal cancer in the pediatric population is a rare but transpirable phenomenon. The occurrence should prompt suspicion for underlying genetic mutations in the setting of a hereditary cancer predisposition syndrome. In this series, we outline three pediatric patients with colonic adenocarcinoma who were found to have one or more germline mutations. The presence of compound mutations may lead to a hypermutator phenotype resulting in earlier presentation of colorectal cancer in childhood and adolescence. The diagnosis of colorectal cancer in pediatric patients warrants timely recognition, multigene panel testing, genetic counseling for the patient and family, and increased surveillance for intestinal and extra‐intestinal tumors.
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