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J Med Genet 2009;46:215-216 doi:10.1136/jmg.2008.060749
  • Correspondence
    • PostScript

Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

  1. R Armstrong1,
  2. K L Greenhalgh1,
  3. E Rattenberry2,
  4. B Judd3,
  5. R Shukla4,
  6. P D Losty5,
  7. E R Maher2,6
  1. 1
    Merseyside & Cheshire Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  2. 2
    West Midlands Regional Genetics Service, Birmingham Women’s Hospital, Birmingham B15 2TG, UK
  3. 3
    Department of Nephrology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  4. 4
    Department of Paediatric Histopathology, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  5. 5
    Professor of Paediatric Surgery, Division of Child Health, Royal Liverpool Children’s Hospital (Alder Hey), Liverpool, UK
  6. 6
    Department of Medical and Molecular Genetics, University of Birmingham, Birmingham, UK
  1. Dr R Armstrong, Merseyside & Cheshire Medical Genetics Service, Department of Clinical Genetics, Royal Liverpool Children’s Hospital (Alder Hey), Eaton Road, Liverpool, L12 2AP, UK; ruth.armstrong{at}lwh.nhs.uk

    We read with interest the recent report by Cascon et al1 of three families with a germline SDHB deletion. In particular, we noted that in one family an SDHB deletion carrier was diagnosed with an adrenal neuroblastoma (with metastasis in five homolateral ganglia) at the age of 5 years. Cascon et al1 also reported that both phaeochromocytomas and the neuroblastoma from people with the SDHB deletion showed 1p36 allele loss. This finding suggested a possible association between SDHB mutations and neuroblastoma susceptibility. However, germline or somatic SDHB mutations have not been described previously in neuroblastoma.2 3

    Recently we detected an SDHB deletion in a 13-year-old girl with a composite paraganglioma/neuroblastoma. …

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