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首页> 外文期刊>BMC Medical Genetics >SDHC methylation in gastrointestinal stromal tumors (GIST): a case report
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SDHC methylation in gastrointestinal stromal tumors (GIST): a case report

机译：胃肠道间质瘤（GIST）中的SDHC甲基化：病例报告

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Background Gastrointestinal stromal tumors (GIST) recently have been recognized as a genetically and biologically heterogeneous disease. In addition to KIT or PDGFRA mutated GIST, mutational inactivation of succinate dehydrogenase (SDH) subunits has been detected in the KIT/PDGFRA wild-type subgroup, referred to as SDH deficient (dSDH). Even though most dSDH GIST harbor mutations in SDHx subunit genes, some are SDHx wild type. Epigenetic regulation by DNA methylation of CpG islands recently has been found to be an alternative mechanism underlying the lack of SDH complex in GIST. Case presentation We report a particular case of dSDH GIST, previously analyzed with microarrays and next-generation sequencing, for which no molecular pathogenetic events have been identified. Gene expression analysis showed remarkable down-modulation of SDHC mRNA with respect to all other GIST samples, both SDHA-mutant and KIT/PDGFRA-mutant GIST. By a bisulfite methylation assay targeted to 2 SDHC CpG islands, we detected hypermethylation of the SDHC promoter. Conclusion Herein we report an additional case of dSDH GIST without SDHx mutation but harboring hypermethylation in the SDHC promoter, thus confirming the complexity of the molecular background of this subtype of GIST.
机译：背景技术胃肠道间质瘤（GIST）最近被认为是遗传和生物学上的异质性疾病。除KIT或PDGFRA突变的GIST外，还已在KIT / PDGFRA野生型亚组中检测到琥珀酸脱氢酶（SDH）亚基的突变失活，称为SDH缺陷（dSDH）。即使大多数dSDH GIST在SDHx亚基基因中都有突变，但有些还是SDHx野生型。最近发现，通过CpG岛的DNA甲基化进行表观遗传调控是GIST中缺乏SDH复合物的另一种机制。病例介绍我们报告了dSDH GIST的一个特殊病例，该病例先前已通过微阵列和下一代测序进行了分析，但尚未发现分子致病事件。基因表达分析表明，相对于所有其他GIST样本（SDHA突变的和KIT / PDGFRA突变的GIST），SDHC mRNA的显着下调。通过针对2个SDHC CpG岛的亚硫酸氢盐甲基化测定，我们检测到SDHC启动子的甲基化过高。结论本文中我们报道了另一例没有SDHx突变但在SDHC启动子中存在高甲基化的dSDH GIST，从而证实了该GIST亚型的分子背景的复杂性。

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