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Early Onset Colorectal Adenocarcinoma in a 15-Year-Old with Pathogenic Germline Mutations in APC and MLH1: A Case Report

Published:February 18, 2021DOI:https://doi.org/10.1016/j.clcc.2021.02.005
      Polyposis and colorectal cancer in children can have various nonspecific presentations such as abdominal pain, unexplained anemia, and weight loss. Polyps in children in the absence of an underlying genetic polyposis syndrome are most often benign solitary hamartomas; however, adenomas can occur and could signal increased risk for malignancy or an underlying genetic cancer syndrome. Familial adenomatous polyposis (FAP) occurs with mutations in the adenomatous polyposis coli (APC) tumor suppressor gene; whereas Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC) mutations, often involve DNA mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, or PMS2.
      • Kay M
      • Eng K
      • Wyllie R.
      Colonic polyps and polyposis syndromes in pediatric patients.
      FAP is a colorectal cancer syndrome characterized by a notably large colonic polyp burden. FAP is the most common childhood polyposis syndrome, occurring in 1 to 3 per 100,000; it will progress to malignancy 100% of the time in adults if left untreated.
      • Kay M
      • Eng K
      • Wyllie R.
      Colonic polyps and polyposis syndromes in pediatric patients.
      ,
      • Fahy AS
      • Moir CR.
      Pediatric and congenital colorectal diseases in the adult patient: current approaches to pediatric polyposis syndromes.
      This syndrome can be inherited or be the result of sporadic mutations in 10% to 30% of cases.
      • de la Chapelle A.
      Genetic predisposition to colorectal cancer.
      ,
      • Hyer W
      • Beveridge I
      • Domizio P
      • Phillips R.
      Clinical management and genetics of gastrointestinal polyps in children.

      Keywords

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