Match the following hereditary gastrointestinal polyposis and cancer syndromes with their defining genetic, clinical, or phenotypic characteristics.
- Familial Adenomatous Polyposis (FAP)Associated with an APC gene mutation, presenting with hundreds of colonic adenomas without prominent extra-intestinal soft-tissue or bone tumors.
- Lynch Syndrome (HNPCC)Associated with defective DNA mismatch repair genes (e.g., MLH1, MSH2) leading to right-sided colon cancers and endometrial carcinoma.
- Peutz-Jeghers SyndromeAssociated with an STK11 gene mutation, presenting with hamartomatous gastrointestinal polyps and perioral hyperpigmented macules.
- Gardner SyndromeAssociated with an APC gene mutation, distinctly featuring widespread colonic adenomas alongside osteomas, epidermoid cysts, and desmoid tumors.
Answer
Familial Adenomatous Polyposis matches with the APC mutation without extra-intestinal tumors; Lynch Syndrome matches with mismatch repair gene mutations and endometrial cancer; Peutz-Jeghers Syndrome matches with STK11 mutations and perioral pigmentation; Gardner Syndrome matches with an APC mutation accompanied by osteomas and desmoid tumors.
Each hereditary gastrointestinal syndrome has a distinct genetic and phenotypic profile. Classic FAP and Gardner syndrome both arise from APC gene mutations, but Gardner syndrome is distinguished by its unique extra-intestinal manifestations like osteomas and desmoid tumors. Lynch syndrome is fundamentally different, driven by DNA mismatch repair mutations, and presents with fewer polyps but a high risk of right-sided colon and endometrial cancers. Peutz-Jeghers syndrome is uniquely defined by STK11 mutations causing hamartomatous (rather than primarily adenomatous) polyps and mucocutaneous hyperpigmentation.
Step-by-Step Solution
Key Concept
Genetics and clinical manifestations of hereditary gastrointestinal polyposis and colorectal cancer syndromes.