Novel splicing mutation of SDHB gene induced paraganglioma near inferior vena cava: A case report

Yue Gao; Lu Zhang; Wentao LI; Xuepei Zhang; Zhonghua Zheng; Zifang Zhang; Gaofei Ren; Xiaoqing Guo; Huiqin Xiong; Beibei Zhu; Jingjing Xing; Xialian LI

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Novel splicing mutation of SDHB gene induced paraganglioma near inferior vena cava: A case report

VernacularTitle: SDHB基因新发剪接突变导致下腔静脉旁副神经节瘤一例分析
Author: Yue GAO ¹ ; Lu ZHANG ² ; Wentao LI ² ; Xuepei ZHANG ³ ; Zhonghua ZHENG ⁴ ; Zifang ZHANG ⁵ ; Gaofei REN ⁶ ; Xiaoqing GUO ⁶ ; Huiqin XIONG ⁶ ; Beibei ZHU ⁶ ; Jingjing XING ⁶ ; Xialian LI ⁶
Author Information

1. Department of Emergency, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China
2. Shanghai WeHealth Biomedical Technology Company, Shanghai 201318, China
3. Department of Urology Surgery, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
4. Department of Endocrinology, Zhengzhou Hospital of Traditional Chinese Medicine, Zhengzhou 450052, China
5. School of Basic Medical Sciences, Zhengzhou University, Zhengzhou 450001, China
6. Department of Endocrinology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China
Publication Type:Case Reports
Keywords: Paraganglioma; SDHB gene; Splice mutation
From: Chinese Journal of Endocrinology and Metabolism 2020;36(2):153-155
CountryChina
Language:Chinese
Abstract: Pheochromocytoma/paraganglioma(PPGL) was a kind of neuroendocrine tumor that derived from chromaffin tissue, which seems to be an important etiology of secondary hypertension. With the development of molecular detection technology, at least 17 kinds of pathogenic genes of PPGL has been discovered, which is related to 35%-40% PPGL, and about 40% malignant PPGL is associated with SDHB gene mutation. In this study, we reported a case with a novel splicing mutation of SDHB gene induced paraganglioma.