作者
Cristóbal Bernardo-Castiñeira, Nuria Valdés, Marta I Sierra, Inés Sáenz-de-Santa-María, Gustavo F Bayón, Raúl F Perez, Agustín F Fernández, Mario F Fraga, Aurora Astudillo, Rafael Menéndez, Belén Fernández, Maribel Del Olmo, Carlos Suarez, María-Dolores Chiara
发表日期
2018/1
期刊
The Journal of Clinical Endocrinology & Metabolism
卷号
103
期号
1
页码范围
295-305
出版商
Endocrine Society
简介
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 report the comprehensive molecular characterization of one such a tumor of parasympathetic origin compared with healthy paraganglia and other PGLs with or without SDHx mutations.
Results
Integration of multiplatform data revealed somatic SDHC methylation and loss of the 1q23.3 region containing the SDHC gene. This correlated with decreased SDHC messenger RNA (mRNA) and protein levels. Furthermore, another …
学术搜索中的文章
C Bernardo-Castiñeira, N Valdés, MI Sierra… - The Journal of Clinical Endocrinology & Metabolism, 2018