Diagnosis and management issues in pediatric patients with gastrointestinal polyps

The diagnosis and management of gastrointestinal tract polyps in pediatric patients relies on clinical recognition of characteristic syndromic traits through thorough evaluation including detailed pedigree analysis, physical examination, endoscopy and histologic evaluation. This allows a critical distinction to be made between sporadic, typically solitary polyps and rare, syndromic polyps that may be sparse, numerous, diffuse or localized and harbor a risk of recurrence, malignant transformation and extraintestinal manifestations. The onus lies with the primary physician, the gastroenterologist and the surgeon involved to recognize syndromic patients and to coordinate a team approach in support of the affected family. In these patients, genetic counseling is pivotal in assessing the cancer risk, directing gene mutation testing, and coordinating the appropriate surveillance strategy tailored to the particular clinical scenario. Gene mutation analysis is highly predictive of the likelihood of disease if, within the same pedigree, the mutation was detected in an affected individual and found to segregate among other affected individuals, using the same testing method.