RT Journal Article
SR Electronic
T1 Phaeochromocytoma in children
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 899
OP 904
DO 10.1136/adc.2008.139121
VO 93
IS 10
A1 Armstrong, R
A1 Sridhar, M
A1 Greenhalgh, K L
A1 Howell, L
A1 Jones, C
A1 Landes, C
A1 McPartland, J L
A1 Moores, C
A1 Losty, P D
A1 Didi, M
YR 2008
UL http://adc.bmj.com/content/93/10/899.abstract
AB 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.