A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma |
| |
| Authors: | Quan Jiang Yong Zhang Yu-Hong Zhou Ying-Yong Hou Jiong-Yuan Wang Jing-Lei Li Ming Li Han-Xing Tong Wei-Qi Lu |
| |
| Affiliation: | 1Department of General Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China;2Department of Oncology, Zhongshan Hospital, Fudan University, Shanghai 200032, China;3Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China;4Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China |
| |
| Abstract: | 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. |
| |
| Keywords: | Succinate dehydrogenase gastrointestinal stromal tumor renal cell carcinoma mutation |
|
|
