Identification of Leukemia-associated mutations in AML patients

Bone marrow samples from 12 acute myeloid leukemia patients were collected at diagnostic time point and 3 more samples from 3 patients were collected at relapse stage. Leukemic cells were isolated from each sample and lymphocytes from same sample were isolated to be used as germline control. Whole exome sequencing was performed using HiSeq 2000 platform (Illumina)to identify leukemia-specific mutations. The identified mutations were then validated and tracked at different time pints during therapy and relapse in order to identify Pre-Leukemic clones. The analysis was performed for leukemic and non-leukemic cellular subcompartments in order to to identify pre-leukemic clones that survive therapy and to reveal clonal heterogeneity in AML.