Hereditary hamartomatous polyposis syndromes: understanding the disease risks as children reach adulthood.
Hamartomatous polyposis syndromes are a rare group of hereditary autosomal dominant disorders that comprise less than 1% of all hereditary colorectal cancers. Hamartomatous polyps, in and of themselves, are benign entities; however, these hamartomatous polyposis syndromes have a malignant potential for the development of colorectal cancer as well as extracolonic cancers. Early detection and proper surveillance are vital to minimizing the risk of carcinoma. This article provides a critical review of the clinical presentation, pathology, genetics, and screening and surveillance guidelines of juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, and Peutz-Jeghers syndrome.
Manfredi
Michael
M
Dr. Manfredi serves as Instructor in Pediatrics at Harvard Medical School and Associate Director of Endoscopy at Children's Hospital Boston in Boston, Massachusetts.