Cancer Predisposition in Children with Brain Tumors

Brain tumors are the second most common cause of cancer in children and the leading cause of morbidity and mortality. A significant number of these cancers have specific genetic events which can be traced to the germline. As a result, cancer predisposition syndromes are seen in children with brain tumors in much higher frequency than other childhood cancers. These syndromes predispose the individual and family members to multiple cancers in different organs and to other manifestations caused by the genetic dysfunction. Although these syndromes are devastating to the child and other family members and have emotional and social consequences, recent molecular discoveries and careful surveillance have resulted in improved survival and reduced morbidity. Importantly, identifying a genetic predisposition can alter treatment of the existing malignancy, by mandating the use of a different protocol, targeted therapy, or other novel therapies. Hence prompt diagnosis is sometimes crucial for these children. Therefore, high index of suspicion and early referral to genetic testing and counseling is an important part of the treatment plan and may offer substantial benefit to these families. This chapter will discuss the clinical manifestations, genetic overview, and management of these complex syndromes.