SDHA mutated paragangliomas may be at high risk of metastasis.
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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.
AuthorsTufton, N; Ghelani, R; Srirangalingam, U; Kumar, VKA; Drake, W; Iacovazzo, D; Skordilis, K; Berney, DM; Al-Mrayat, M; Khoo, B; Akker, S
- Endocrinology