Article
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.
Frontiers in endocrinology - 1 Jan 2023
Guha Anasuya, Vicha Ales, Zelinka Tomas, Kana Martin, Musil Zdenek, Pacak Karel, Betka Jan, Chovanec Martin, Plzak Jan, Boucek Jan
Abstract excerpt
Introduction: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D (SDHD) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the absence of positive family history, thus giving rise to "occult familial" cases. Our aim was to evaluate the...
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