Aghamir Seyed Mohammad Kazem, Heshmat Ramin, Ebrahimi Mehdi, Ketabchi Seyed Ebrahim, Parichehreh Dizaji Somayeh, Khatami Fatemeh
Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Chronic Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Onco Targets Ther. 2019 Sep 26;12:7929-7940. doi: 10.2147/OTT.S207460. eCollection 2019.
Renal cell cancer (RCC) syndrome is linked to Krebs cycle compartments and their coding genes' alterations like genes (). Here we present a systematic review of the SDH genes' mutations and their impact on both RCC diagnosis and prognosis.
This systematic review includes any study in which tissue samples of RCC are considered in correlation with the SDHx mutations, microsatellite instability (MSI), and protein expression. For this purpose, a systematic search of MEDLINE (PubMed), Scopus, Embase, and Web of Science databases was conducted and finally 5384 articles were recruited. All studies' content was checked to find the related ones which were 145 articles, which with data extraction were limited to nineteen.
The final selected nineteen studies investigating the role in RCC tumor genesis were included, among which fifteen were mutation analysis, three were just protein expression, and two were MSI and mutation analysis studies. A total of 432 RCC patients were reported by mutations, and 64 patients with MSI and expression change were reported in 514 surgically resected renal epithelial tumors. The most common mutation was the single nucleotide variant rs772551056 (c.137G>A) of . For , presented in 48 RCC patients, and for a novel germline mutation c.2T>C: p.M1T in an occasional case of gastrointestinal stromal tumor intricate with RCC.
RCC as an aggressive type of kidney cancer needs some biomarkers to be diagnosed exactly. It was shown recently that the succinate dehydrogenase gene variations can provide this diagnostic and prognostic biomarker. For this purpose, SDHB rs772551056 associated with its protein expression alterations can be taken into account. It is possible that a novel mutation of SDHA (c.2T>C: p.M1T) can provide evidence of GIST associated with RCC as well.
肾细胞癌（RCC）综合征与三羧酸循环区室及其编码基因的改变有关，如基因（）。在此，我们对SDH基因的突变及其对RCC诊断和预后的影响进行了系统综述。
本系统综述纳入了任何将RCC组织样本与SDHx突变、微卫星不稳定性（MSI）和蛋白表达相关联的研究。为此，我们对MEDLINE（PubMed）、Scopus、Embase和Web of Science数据库进行了系统检索，最终纳入5384篇文章。检查所有研究内容以找出相关文章，共145篇，经数据提取后限制为19篇。
最终纳入了19项研究，这些研究探讨了在RCC肿瘤发生中的作用，其中15项为突变分析，3项仅为蛋白表达研究，2项为MSI和突变分析研究。通过突变报告了总共432例RCC患者，在514例手术切除的肾上皮肿瘤中报告了64例MSI和表达改变的患者。最常见的突变是 的单核苷酸变体rs772551056（c.137G>A）。对于 ，在48例RCC患者中出现，对于 ，在1例与RCC复杂相关的胃肠道间质瘤病例中发现了一种新的胚系突变c.2T>C：p.M1T。
RCC作为一种侵袭性肾癌类型，需要一些生物标志物来进行准确诊断。最近研究表明，琥珀酸脱氢酶基因变异可提供这种诊断和预后生物标志物。为此，可考虑与蛋白表达改变相关的SDHB rs772551056。SDHA的一种新突变（c.2T>C：p.M1T）也有可能为与RCC相关的胃肠道间质瘤提供证据。
