Phaeochromocytoma in children

Phaeochromocytoma are a rare clinical entity in children. Contrary to traditional teaching which suggested that 10% of phaeochromocytomas are 9familial9, advances in molecular genetics have revealed an identifiable germ line mutation 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 germ line mutation in the Von Hippel Lindau (VHL) gene; the genes encoding for the subunits B and D of succinate dehydrogenase (SDHB and SDHD); the RET proto-oncogene predisposing to Multiple Endocrine Neoplasia Type 2 (MEN2) or the Neurofibromatosis Type 1 (NF1) gene.1 Of these, the Von Hipplel Lindau gene is the most commonly mutated gene in children presenting with a phaeochromocytoma.1, 2 Referral to Clinical Genetics is recommended for genetic counselling prior to 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.