Molecular Profiling of Myeloid Neoplasm by Next-Generation Sequencing

We performed an integrative analysis of molecular profiles of 52 patients with Myeloid malignancies from a tertiary care teaching hospital in Jaipur. Targeted next-generation sequencing of 80 genes revealed 23 genes mutated in over 5% of patients. Mutational profiles differed considerably from previous studies. FLT3, DNMT, NPM1, N-RAS, ASXL1, CEBPA and RUNX1 mutations were more frequent in AML patients, while CBL, JAK2, GATA2, SF3B1, WT1, KRAS, MPL, TP53 and ZRSR2 were less frequent. Additionally, we identified ABL gene in 2 CML, DNMT in 1 MDS, and IDH1, JAK2, MPL, EZH2, PDGFRA in MPN/MPN-PV.