Exploring new gene target of 4q-UPD in Myelodysplastic syndromes

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Using high resolution single nucleotide polymorphism (SNP) microarrays to examine DNA copy number alterations and loss of heterozygosity (LOH), copy-number neutral LOH (aUPD) were seen in about 30% cases of MDS. We identified recurring aUPD involving 4q24 and led to the identification of TET2 mutations by target sequencing. We also conducted whole exome analysis of 20 MDS samples, where entire exon sequences were enriched by using SureSelect Human All Exon kit and were subjected to resequencing analysis using Genome Analizer IIx. By comparing sequences in tumors and paired T cells, nearly 200 somatic mutations and 10 insertions-deletions were detected in total. Our results suggested that target-capture resequencing technology is a powerful method to identify new gene mutations that are implicated in the pathogenesis of MDS.