1.
Pediatr Blood Cancer
; 69(10): e29790, 2022 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35670754
RESUMO
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.
Assuntos
Neoplasias Colorretais , Síndromes Neoplásicas Hereditárias , Idade de Início , Criança , Neoplasias Colorretais/diagnóstico , Neoplasias Colorretais/genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Mutação em Linhagem Germinativa , Humanos , Síndromes Neoplásicas Hereditárias/genética , Fenótipo
2.
Clin Colorectal Cancer
; 20(3): 197-200, 2021 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33745841