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Article

Molecular evaluation of a sporadic paraganglioma with concurrent IDH1 and ATRX mutations.

Endocrine - 1 Aug 2018

Zhang Jing, Jiang Jingjing, Luo Yu, Li Xiaomu, Lu Zhiqiang, Liu Yujun, Huang Jie, Hou Yingyong, Pang Ying, Sun Mitchell Yee Fong, Wang Tracy S, Evans Douglas B, Pacak Karel, Zhuang Zhengping, Gao Xin

Abstract excerpt

PURPOSE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors of neural crest origin. Germline or somatic mutations of numerous genes have been implicated in the pathogenesis of PPGLs, including the isocitrate dehydrogenase 1 (IDH1) gene and alpha thalassemia/mental retardation syndrome X-linked (ATRX) gene. Although concurrent IDH1 and ATRX mutations are frequently seen in gliomas, they have...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29846902
DOI: 10.1007/s12020-018-1617-1
PMCID: PMC7461619

Genes

ATRX
IDH1

Variants

Provenance

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