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

@article{Zhang2018MolecularEO,
  title={Molecular evaluation of a sporadic paraganglioma with concurrent IDH1 and ATRX mutations},
  author={Jing Zhang and Jingjing Jiang and Yu Luo and Xiaomu Li and Zhiqiang Lu and Yujun Liu and Jie Tang Yan Huang and Y. M. Hou and Ying Pang and Mitchell Yee Fong Sun and Theodore S. T. Wang and Douglas B. Evans and Karel Pacak and Zhengping Zhuang and Xin Gao},
  journal={Endocrine},
  year={2018},
  volume={61},
  pages={216-223}
}
PurposePheochromocytomas 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 never been reported together in PPGLs. The aim of this study was to characterize one… CONTINUE READING
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