title: Update on pediatric cancer predisposition syndromes.
abstract: Hereditary cancer syndromes in children and adolescents are becoming more recognized in the field of pediatric hematology/oncology. A recent workshop held at the American Society of Pediatric Hematology/Oncology (ASPHO) 2012 Annual Meeting included several interactive sessions related to specific familial cancer syndromes, genetic testing and screening, and ethical issues in caring for families with inherited cancer risk. This review highlights the workshop presentations, including a brief background about pediatric cancer predisposition syndromes and the importance of learning about them for the practicing pediatric hematologists/oncologists. This is followed by a brief summary of the newly described cancer predisposition syndromes including Rhabdoid Tumor Predisposition Syndrome, Hereditary Paragangliomas and Pheochromocytoma Syndrome, and Familial Pleuropulmonaryblastoma Tumor Predisposition (DICER1) Syndrome. The next section covers genetic testing and screening for pediatric cancer predisposition syndromes. Ethical issues are also discussed including preimplantation genetic diagnosis or testing (PGD/PGT), suspicious lesions found on tumor screening, and incidental mutations discovered by whole genome sequencing. Finally, the perspective of a family with Li-Fraumeni Syndrome is shared.
authors.affiliation: Center for Children's Cancer Research and Department of Pediatrics, University of Utah, Salt Lake City, Utah 84112, USA. joshua.schiffman@hci.utah.edu
authors.forename: Joshua D
authors.initials: JD
authors.lastname: Schiffman
authors.forename: James I
authors.initials: JI
authors.lastname: Geller
authors.forename: Erin
authors.initials: E
authors.lastname: Mundt
authors.forename: Anthony
authors.initials: A
authors.lastname: Means
authors.forename: Lindsey
authors.initials: L
authors.lastname: Means
authors.forename: Von
authors.initials: V
authors.lastname: Means
mesh_terms: D000293:Adolescent; D001675:Bioethics; D002648:Child; D002675:Child, Preschool; D003226:Congresses as Topic; D004493:Education; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016864:Li-Fraumeni Syndrome / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009369:Neoplasms; D012955:Societies, Medical; D013577:Syndrome; D014481:United States