Article
SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.
The Journal of clinical endocrinology and metabolism - 1 Jan 2018
Bernardo-Castiñeira Cristóbal, Valdés Nuria, Sierra Marta I, Sáenz-de-Santa-María Inés, Bayón Gustavo F, Perez Raúl F, Fernández Agustín F, Fraga Mario F, Astudillo Aurora, Menéndez Rafael, Fernández Belén, Del Olmo Maribel, Suarez Carlos, Chiara María-Dolores
Abstract excerpt
Context: Germline mutations in the succinate dehydrogenase A, B, C, and D genes (collectively, SDHx) predispose to the development of paragangliomas (PGLs) arising at the parasympathetic or sympathetic neuroendocrine systems. SDHx mutations cause absence of tumoral immunostaining for SDHB. However, negative SDHB immunostaining has also been found in a subset of PGLs that lack SDHx mutations. Settings: Here, we...
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