Discrepant Mutational Composition between Myeloid Sarcoma and Bone Marrow Leukemia Revealed through Targeted Next Generation Sequencing

Conclusion:Interestingly, additional driver mutations were identified in the MS samples compared to the BM counterparts, suggesting that a comprehensive characterization of AML heterogeneity might need the mutational profiling of the coexisting MS. AML patients with MS infers a negative prognosis and were treated with frontline allogeneic stem cell transplantation whenever possible in this study. Consistent with prior report, this study showed a higher incidence of genetic alteration of NPM1, FLT3-ITD and DNMT3A in MS along with an enrichment of RTK-RAS signaling pathway mutations. Functional study is needed to delineate the biology underlying the ectopic homing of these commonly mutated genes in AML.(Figure legend)Molecular signature of 25 patients with myeloid sarcoma. Highlight in red represents pathologic mutation, highlight in blue represents mutation of unknown significance.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Lee, S. H., Huang, T.-C., Chang-Tsu, Y., Kuo, Y.-Y., Chiou, R.-J., Chuang, Y.-K., Tien, H.-F., Tang, J.-L. Tags: 613. Acute Myeloid Leukemia: Clinical Studies: Poster I Source Type: research