Recent genetic studies report that 5 - 10% of all cancers diagnosed in the pediatric age occur in children born with a genetic mutation. Characterization of genetic mutations responsible for increased cancer risk in inherited syndromes can result in a profound understanding of relevant molecular pathways involved in carcinogenesis. This article highlights the clinical and genetic features of some known genetic syndromes that predispose to malignancy in children and young adults. Most of the children and young adults, because of their constitutional genetic status, are at life-long heightened risk of malignancy.

Recognizing such affected pediatric patients is important because each cancer syndrome is associated with specific tumors. Down Syndrome Down syndrome (DS) occurs roughly 1 in 1000 live births and is highest among infants born to older mothers. Although the cognitive and motor…