Title |
SDHA mutated paragangliomas may be at high risk of metastasis
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Published in |
Endocrine-Related Cancer, May 2017
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DOI | 10.1530/erc-17-0030 |
Pubmed ID | |
Authors |
Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, Ajith V Kumar, William M Drake, Donato Iacovazzo, Kassiani Skordilis, Daniel Berney, Ma'en Al-Mrayat, Bernard Khoo, Scott A Akker |
Abstract |
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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Unknown | 1 | 100% |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 8 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Postgraduate | 2 | 25% |
Student > Ph. D. Student | 1 | 13% |
Student > Bachelor | 1 | 13% |
Professor > Associate Professor | 1 | 13% |
Unknown | 3 | 38% |
Readers by discipline | Count | As % |
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Medicine and Dentistry | 4 | 50% |
Unknown | 4 | 50% |