Cellular Maturity Shifts and Highly Recurrent Gene Expression Changes Underlying Relapse in Adult Acute Myelogenous Leukemia

Whole exome sequencing (WXS) was performed on paired tumor diagnosis and relapse samples for 18 adult patients with acute myelogenous leukemia (AML) in addition to germline DNA collected by buccal swab as a matched normal. Diagnosis and relapse samples of peripheral leukemic blood or bone marrow aspirate underwent Ficoll density gradient centrifugation to obtain PBMCs. These were then enriched for myeloblasts through negative selection via MACS with Miltenyi columns/beads to remove CD3+ (T lymphocytes), CD19+ (B lymphocytes), and GPA+ (erythrocytes/erythroid precursors) cells. This enriched blast population was then digested for genomic DNA extraction. Purified genomic DNA from these samples as well as accompanying buccal swabs were sent to the Advanced Genomics Sequencing Core at the... (for more see dbGaP study page.)