Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA.
Pediatr Blood Cancer. 2022 Oct;69(10):e29790. doi: 10.1002/pbc.29790. Epub 2022 Jun 7.
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.
小儿结直肠癌是一种罕见但可发生的现象。在遗传性癌症易感性综合征的背景下，这种情况应引起对潜在遗传突变的怀疑。在本系列中，我们描述了 3 例患有结肠腺癌的儿科患者，他们发现存在一种或多种种系突变。复合突变的存在可能导致致病变异表型，导致儿童和青少年结直肠癌更早出现。小儿结直肠癌的诊断需要及时识别，多基因面板检测，对患者和家属进行遗传咨询，并增加对肠内和肠外肿瘤的监测。
