Phaeochromocytoma in children.
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.
Armstrong
R
R
Department of Clinical Genetics, Royal Liverpool Children's Hospital, Alder Hey, Liverpool, UK. ruth.armstrong@lwh.nhs.uk
Sridhar
M
M
Greenhalgh
K L
KL
Howell
L
L
Jones
C
C
Landes
C
C
McPartland
J L
JL
Moores
C
C
Losty
P D
PD
Didi
M
M
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
D014408:Biomarkers, Tumor; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas