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Clinical Pediatrics
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The Role of Pediatricians in Families with a History of Familial Adenomatous Polyposis

Ann Marie Augustyn, MS, CGC

Cancer Risk and Genetic Assessment Program, Lehigh Valley Health Network, Allentown, Pennsylvania, annmarie.augustyn{at}lvh.com

Robert Wallerstein, MD

South Bay Regional Genetics Center, Department of Pediatrics, Santa Clara Valley Medical Center, San Jose, California

Colon cancer is not an entity that pediatricians routinely confront; however, a family history of colon cancer can have pediatric implications when it is part of familial adenomatous polyposis syndrome. Colonic (multiple intestinal polyps) and extracolonic manifestations (such as hepatoblastoma or brain tumors) can be the presenting features in children. The authors present 2 patients from different families with familial adenomatous polyposis who presented with the extracolonic manifestation of this syndrome and a family history of colon cancer. Identification of these families and education of their primary care givers can lead to improved screening and management of these high-risk individuals.

Key Words: familial adenomatous polyposis • adenomatous polyposis coli • hepatoblastoma • medulloblastoma • pediatric • polyposis • surveillance

This version was published on July 1, 2009

Clinical Pediatrics, Vol. 48, No. 6, 623-626 (2009)
DOI: 10.1177/0009922809332681
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