title: A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.
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.
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Quan
authors.initials: Q
authors.lastname: Jiang
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: Department of Oncology, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Yu-Hong
authors.initials: YH
authors.lastname: Zhou
authors.affiliation: Department of Pathology, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Ying-Yong
authors.initials: YY
authors.lastname: Hou
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Jiong-Yuan
authors.initials: JY
authors.lastname: Wang
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Jing-Lei
authors.initials: JL
authors.lastname: Li
authors.affiliation: Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine Shanghai 200092, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Han-Xing
authors.initials: HX
authors.lastname: Tong
authors.affiliation: Department of General Surgery, Zhongshan Hospital, Fudan University Shanghai 200032, China.
authors.forename: Wei-Qi
authors.initials: WQ
authors.lastname: Lu
mesh_terms: D002292:Carcinoma, Renal Cell / Q000150:complications / Q000235:genetics* / Q000473:pathology; D015536:Down-Regulation; D046152:Gastrointestinal Stromal Tumors / Q000150:complications / Q000235:genetics* / Q000473:pathology; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D008297:Male; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics*; D010673:Pheochromocytoma / Q000235:genetics*; D013385:Succinate Dehydrogenase / Q000235:genetics*; D055815:Young Adult
chemical_list: C491545:SDHD protein, human; D013385:Succinate Dehydrogenase
keywords: Succinate dehydrogenase; gastrointestinal stromal tumor; mutation; renal cell carcinoma