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Phaeochromocytoma in children
  1. R Armstrong1,
  2. M Sridhar2,
  3. K L Greenhalgh1,
  4. L Howell3,
  5. C Jones2,
  6. C Landes4,
  7. J L McPartland5,
  8. C Moores6,
  9. P D Losty7,
  10. M Didi8
  1. 1
    Merseyside & Cheshire Medical Genetics Service, Department of Clinical, Genetics, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  2. 2
    Department of Nephrology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  3. 3
    Department of Oncology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  4. 4
    Department of Radiology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  5. 5
    Department of Paediatric Histopathology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  6. 6
    Department of Anaesthesia, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  7. 7
    Department of Paediatric Surgery, Division of Child Health, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  8. 8
    Department of Endocrinology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  1. Dr R Armstrong Department of Clinical Genetics, Royal Liverpool Children’s Hospital (Alder Hey), Eaton Road, Liverpool L12 2AP, UK; ruth.armstrong{at}lwh.nhs.uk

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.

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Footnotes

  • Competing interests: None.

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