Screening and surveillance recommendations for pediatric gastrointestinal polyposis syndromes.
Inherited polyposis syndromes are relatively rare disorders in pediatric gastroenterology practice, even in busy academic settings. It is important, however, for pediatric gastroenterologists to be aware of the serious health risks for children and their families affected by these disorders. The diagnosis of a polyp syndrome is often made in the first or second decade of life, long before the risk of gastrointestinal neoplasia. Pediatric gastroenterologists must be prepared then to offer families predictive genetic screening as well as endoscopic surveillance when appropriately indicated. The current overview is designed to provide general guidelines and, whenever possible, evidence-based recommendations for genetic testing, endoscopic surveillance and other screening approaches for children with inherited gastrointestinal polyposis syndromes. In this presentation, the focus is on screening for neoplastic change and complications in the gastrointestinal tract. It is important to understand that extraintestinal cancers are frequent in some of these disorders and the reader is referred to other authoritative sources for additional information about comprehensive health screening outside the gastrointestinal system.
Barnard
John
J
Research Institute at Nationwide Children's Hospital, Department of Pediatrics, Ohio State University College of Medicine, Columbus, OH 43205, USA. john.barnard@nationwidechildrens.org
D011125:Adenomatous Polyposis Coli / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D003113:Colonoscopy; D015179:Colorectal Neoplasms / Q000235:genetics / Q000517:prevention & control*; D005770:Gastrointestinal Neoplasms / Q000235:genetics / Q000517:prevention & control*; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D044483:Intestinal Polyposis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010580:Peutz-Jeghers Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome