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Phaeochromocytoma in children
  1. Ruth Armstrong (ruth.armstrong{at}lwh.nhs.uk)
  1. Cheshire and Merseyside Medical Genetics Service, United Kingdom
    1. Mathrubootham Sridhar
    1. Department of Nephrology,Royal Liverpool Children's Hospital (Alder Hey), United Kingdom
      1. Karen Lynn Greenhalgh
      1. Cheshire and Merseyside Medical Genetics Service, United Kingdom
        1. Lisa Howell
        1. Department of Oncology, Royal Liverpool Children's Hospital (Alder Hey),, United Kingdom
          1. Caroline Jones
          1. Department of Nephrology,Royal Liverpool Children's Hospital (Alder Hey), United Kingdom
            1. Caren Landes, Dr
            1. Department of Radiology, Royal Liverpool Children’s Hospital (Alder Hey),, United Kingdom
              1. Jo McPartland
              1. Department of Paediatric Histopathology, Royal Liverpool Children's Hospital (Alder, United Kingdom
                1. Caron Moores
                1. Department of Anaesthesia, Royal Liverpool Children's Hospital (Alder Hey),, United Kingdom
                  1. Paul Losty
                  1. Division of Child Health, Royal Liverpool Children's, United Kingdom
                    1. Mohammed Didi
                    1. Department of Endocrinology, Royal Liverpool Children's, United Kingdom

                      Abstract

                      Phaeochromocytoma are a rare clinical entity in children. Contrary to traditional teaching which suggested that 10% of phaeochromocytomas are 'familial', 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.

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