Germline Mutations Associated with Leukemia in Childhood: New Discoveries and Emerging Phenotypes

Purpose of Review Acute leukemia is the most common cancer of childhood. The pathogenesis of childhood leukemia is multifactorial, and most cases occur sporadically. Although the majority of genetic changes are acquired somatic mutations, recent discoveries have revealed that inherited germline mutations are present in an increasing proportion of children, predisposing them to leukemia.