title: Phaeochromocytoma in children.
abstract: Phaeochromocytoma is a rare clinical entity in children. Contrary to traditional teaching, which suggested that 10% of phaeochromocytomas are "familial", a germline mutation has been identified in up to 59% (27/48) of apparently sporadic phaeochromocytomas presenting at 18 years or younger and in 70% of those presenting before 10 years of age. The inherited predisposition may be attributable to a germline mutation in the Von Hippel-Lindau gene, the genes encoding the subunits B and D of succinate dehydrogenase, the RET proto-oncogene predisposing to multiple endocrine neoplasia type 2, or the neurofibromatosis type 1 gene. Of these, the Von Hippel-Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma. Genetic counselling is recommended before gene testing and investigation of the wider family. This review provides guidance on the aetiology, investigation, management, histopathology, genetics and follow-up of children with a phaeochromocytoma.
authors.affiliation: Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. ruth.armstrong@lwh.nhs.uk
authors.forename: R
authors.initials: R
authors.lastname: Armstrong
authors.forename: M
authors.initials: M
authors.lastname: Sridhar
authors.forename: K L
authors.initials: KL
authors.lastname: Greenhalgh
authors.forename: L
authors.initials: L
authors.lastname: Howell
authors.forename: C
authors.initials: C
authors.lastname: Jones
authors.forename: C
authors.initials: C
authors.lastname: Landes
authors.forename: J L
authors.initials: JL
authors.lastname: McPartland
authors.forename: C
authors.initials: C
authors.lastname: Moores
authors.forename: P D
authors.initials: PD
authors.lastname: Losty
authors.forename: M
authors.initials: M
authors.lastname: Didi
mesh_terms: D000293:Adolescent; D000310:Adrenal Gland Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D014408:Biomarkers, Tumor / Q000032:analysis; D002648:Child; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010673:Pheochromocytoma / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000090063:Proto-Oncogene Mas
chemical_list: D014408:Biomarkers, Tumor; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas