P-345 Connecting 1q amplification and PHF19 expression in high-risk myeloma clones

摘要: 20th International Myeloma Society Annual Meeting September 2023 S229 Abstracts of EMD cells to date combining the whole exome sequencing (WES), bulk RNA sequencing (RNA-seq) and single cell RNA sequencing (scRNA-seq) data from the largest cohort of EMD samples ever sequenced (N= 15) collected between 2017-2023. Methods: WES was performed for 15 EMD samples and 8 paired NDMM samples using Twist Comprehensive Human Exome. RNAseq was performed for 15 EMD, 8 paired NDMM, 7 unpaired NDMM and 15 unrelated RRMM samples using SMARTer Stranded Total RNA-Seq Kit v2. scRNAseq was performed for 5 EMD samples using Cedhromium 3’ library kit. All sequencing was performed on Illumina platform. Only FACS/MACS sorted aberrant PCs were used in case bulk DNA/RNA sequencing. Chromosomal aberrations were evaluated using the combination of FISH and …