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Publication Detail
SDHA mutated paragangliomas may be at high risk of metastasis.
  • Publication Type:
    Journal article
  • Publication Sub Type:
  • Authors:
    Tufton N, Ghelani R, Srirangalingam U, Kumar VKA, Drake W, Iacovazzo D, Skordilis K, Berney DM, Al-Mrayat M, Khoo B, Akker S
  • Publication date:
  • Journal:
    Endocrine-related cancer
  • Medium:
  • Print ISSN:
  • Language:
  • Addresses:
    N Tufton, Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, London, United Kingdom of Great Britain and Northern Ireland nicola.tufton1@nhs.net.
We report the clinical outcomes of eleven patients with succinate dehydrogenase subunit A (SDHA) germline mutations from three UK tertiary referral centres to highlight a more diverse and expanding clinical spectrum of associated phenotypes. We suggest that SDHA paraganglioma related disease is not a low risk condition as first described. Of our six index cases, two developed metastatic disease and a further one had local vascular invasion. One patient developed multiple metachronous disease. Therefore, we believe these patients, like those with SDHB & SDHD mutations, should be part of a surveillance programme.
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