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

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-02-25 DOI:10.3760/CMA.J.ISSN.1000-6699.2020.02.012

Yue Gao, Lucy Y. Zhang, Wentao Li, Xuepei Zhang, Zhonghua Zheng, Zifang Zhang, Gaofei Ren, Xiaoqing Guo, Huiqin Xiong, Beibei Zhu, Jingjing Xing, Xia-lian Li

引用次数: 0

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. Key words: Paraganglioma; SDHB gene; Splice mutation

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新型SDHB基因剪接突变诱导下腔静脉附近副神经节瘤1例

嗜铬细胞瘤/副神经节瘤（PPGL）是一种来源于嗜铬组织的神经内分泌肿瘤，是继发性高血压的重要病因。随着分子检测技术的发展，已经发现了至少17种PPGL的致病基因，这些基因与35%-40%的PPGL有关，大约40%的恶性PPGL与SDHB基因突变有关。在本研究中，我们报道了一例SDHB基因诱导的副神经节瘤的新剪接突变。关键词：副神经节瘤；SDHB基因；剪接突变

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.