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  

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

作　　者：高月 张璐 李文涛 张雪培[3] 郑仲华 张紫芳[5] 任高飞[6] 郭小青 熊慧勤 朱贝贝 邢晶晶[6] 栗夏莲[6] Gao Yue;Zhang Lu;Li Wentao;Zhang Xuepei;Zheng Zhonghua;Zhang Zifang;Ren Gaofei;Guo Xiaoqing;Xiong Huiqin;Zhu Beibei;Xing Jingjing;Li Xialian(Department of Emergency,Xinhua Hospital,Shanghai Jiaotong University School of Medicine,Shanghai 200092,China;Shanghai WeHealth Biomedical Technology Company,Shanghai 201318,China;Department of Urology Surgery,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Department of Endocrinology,Zhengzhou Hospital of Traditional Chinese Medicine,Zhengzhou 450052,China;School of Basic Medical Sciences,Zhengzhou University,Zhengzhou 450001,China;Department of Endocrinology,The First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]上海交通大学医学院附属新华医院急诊科,200092 [2]上海韦翰斯生物医药科技有限公司,201318 [3]郑州大学第一附属医院泌尿外科,450052 [4]郑州市中医院内分泌科,450002 [5]郑州大学基础医学院,450001 [6]郑州大学第一附属医院内分泌科,450052

出　　处：《中华内分泌代谢杂志》2020年第2期153-155,共3页Chinese Journal of Endocrinology and Metabolism

摘　　要：嗜铬细胞瘤/副神经节瘤(pheochromocytoma/paraganglioma,PPGL)是起源于嗜铬组织的神经内分泌源性肿瘤,是继发性高血压的重要原因之一。随着临床研究进展,发现遗传性PPGL约占PPGL 35%~40%,且目前已经发现PPGL的致病基因至少有17个,其中SDHB基因突变常见于副神经瘤,且约40%的恶性PPGL与SDHB基因突变有关。本文报道1例SDHB基因新发剪接突变导致的PPGL。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.

关 键 词：副神经节瘤 SDHB基因 剪接突变 

分 类 号：R73[医药卫生—肿瘤]