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

Abstract

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.