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Evaluation of microsatellite instability in tumors of central nervous system: A pilot study

机译:中枢神经系统肿瘤微卫星不稳定性的评估:一项初步研究

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摘要

Microsatellite instability (MSI) characterized by alterations at simple repetitive genomic sequences is a distinct mechanism in tumorogenesis. Central nervous system (CNS) tumors have been reported to exhibit MSI, indicator of defective mismatch repair system with controversies. The present study was undertaken to examine sixteen primary brain and two spinal tumors for MSI at six mono: BAT-26, BAT-40, BAX, TGFßRII, IGFIIR and hMSH3 and four dinucleotide loci: D2S123, D9S1851, D9S283 and D18S58. Polymerase chain reaction (PCR) was done to amplify tumour and blood DNA, analyzed on 8% denaturing Polyacrylamide gel followed by autoradiography. Out of 18 CNS tumors examined, 39% exhibited MSI at BAT-26, BAT-40, D9S1851, D9S283 and D18S58 in tumoral DNA. However, no alteration was observed at BAX, TGFßRII, IGFIIR, hMSH3 and D2S123 loci. Low incidence of MS1-high hypothesizes role of MSI in evolution of CNS tumors but not in cancer initiation or progression.
机译:以简单的重复基因组序列改变为特征的微卫星不稳定性(MSI)是肿瘤发生中的独特机制。据报道中枢神经系统(CNS)肿瘤表现出MSI,这是有争议的错配修复系统缺陷的指标。本研究旨在检查16个原发性脑肿瘤和2个脊髓肿瘤的MSI,分别为BAT-26,BAT-40,BAX,TGFβRII,IGFIIR和hMSH3以及四个双核苷酸位点:D2S123,D9S1851,D9S283和D18S58。进行了聚合酶链反应(PCR)以扩增肿瘤和血液DNA,在8%变性聚丙烯酰胺凝胶上进行分析,然后进行放射自显影。在检查的18种CNS肿瘤中,有39%在肿瘤DNA中的BAT-26,BAT-40,D9S1851,D9S283和D18S58表现出MSI。但是,在BAX,TGFβRII,IGFIIR,hMSH3和D2S123基因座上未观察到任何改变。 MS1的低发生率高,推测MSI在CNS肿瘤进化中的作用,但在癌症的发生或发展中不起作用。

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