Genomic and transcriptomic characterization of acute myeloid leukemia cases with MYC amplification as double minutes (AML-dmin)

Double minutes (dmin) are rare in acute myeloid leukemia (AML) and the mechanism underlying their genesis as well as their transcriptional implications are still unclear. Here, we applied the Illumina next-generation sequencing technology to investigate these structures in a collection of AML cases with MYC amplification in form of dmin. By whole genome sequencing (WGS), we dissected the molecular heterogeneity of 8q24 amplicon structures in our dataset and reconstructed their internal organization at single nucleotide resolution level. In parallel, by performing the transcriptome sequencing (RNA-seq) of the same cases, we profiled gene expression signature, fusion transcripts and mutational patterns associated with dmin presence. The same cases were analyzed also by SNP array technology for genomic profiling (Affymetrix CytoScan HD platform, raw data available in Array Express repository under Accession Number E-MTAB-5372).