Genomic changes in gliomas detected using single nucleotide polymorphism array in formalin-fixed, paraffin-embedded tissue: superior results compared with microsatellite analysis.

作者: Shuko Harada , Lindsay B. Henderson , James R. Eshleman , Christopher D. Gocke , Peter Burger

DOI: 10.1016/J.JMOLDX.2011.05.009

关键词: GenomeMolecular biologyLoss of heterozygosityHuman geneticsMolecular Inversion ProbeSNP arraySingle-nucleotide polymorphismSNPBiologyMicrosatellite

摘要: Deletion or loss of heterozygosity (LOH) in chromosomes 1p and 19q oligodendrogliomas (ODGs) have diagnostic, prognostic, therapeutic implications. Current clinical assays are limited because the probes primers interrogate only genomic segments. We investigated use single nucleotide polymorphism (SNP) arrays for identifying changes gliomas from FFPE tissues. DNA was extracted tissues 30 brain tumor cases (15 ODGs 15 non-ODGs) assayed on Illumina array with 300,000 markers. SNP results were compared standard short tandem repeat (STR) 19q. Fifteen had LOH by STR deletion both Ten non-ODGs no evidence STR, seven which abnormalities these chromosomes; three partial deletions array. Five non-ODG assays. No major discordance found between results. Advantages include need an accompanying normal sample, ability to find small segmental deletions, potential distinguish copy neutral LOH, whole-genome screening allow discovery new, significant loci. Assessment routine glioma specimens using is feasible has great as accurate diagnostic test.

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