SDHB系统
SDHA
主旨
癌症研究
间质瘤
种系突变
生物
副神经节瘤
嫌色细胞
SDHD公司
突变
肾细胞癌
乳头状肾细胞癌
病理
透明细胞癌
作者
Quan Jiang,Yong Zhang,Yuhong Zhou,Yingyong Hou,Jiong-Yuan Wang,Jing-Lei Li,Ming Li,Hanxing Tong,Weiqi Lu
摘要
Succinate dehydrogenase (SDH), which is located on the mitochondrial inner membrane, is essential to the Krebs cycle. Mutations of the SDH gene are associated with many tumors, such as renal cell carcinoma, wild type gastrointestinal stromal tumors (WT GISTs) and hereditary paragangliomas/pheochromocytomas. Herein we present a rare case diagnosed as a WT GIST complicated with a renal chromophobe cell tumor and detected a novel germline heterozygous mutation (c.2T>C: p.M1T) in the initiation codon of the SDHA gene. We also conduct a preliminary exploration for the mechanism of reduced expression of SDHB without mutation of SDHB gene. Our case enriches the mutation spectrum of the SDH gene. After reviewing previous studies, we found it to be the first case diagnosed as a WT GIST complicated with a synchronous renal chromophobe cell tumor and identified a novel germline heterozygous mutation. It was also the second reported case of a renal cell carcinoma associated with an SDHA mutation.
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