Article
Somatic SDHA mutations in paragangliomas in siblings: Case report of 2 cases.
Medicine - 9 Oct 2020
Huang Yen-Chun, Chang Hsiao-Huang, Chen Ming-Huang, Huang Kuo-Hung, Li Anna Fen-Yau, Lin Chien-Hsing, Shyr Yi-Ming, Fang Wen-Liang
Abstract excerpt
RATIONALE: Paragangliomas (PGLs) are rare neuroendocrine tumors that are strongly influenced by genetics, and succinate dehydrogenase-deficient PGLs appear to constitute one of the most important categories. Interestingly, somatic PGLs only possess genomic alterations involving the SDHB and SDHD subunits, and no SDHA alterations have been described. Here, we are presenting the clinical and genetic analyses of 2...
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