PMC6582196_01
Histology of bone marrow. (A and B) MDS at the time of presentation to the NIH and identification of GATA2 mutation (C and D) M5a immature monoblastic AML four months after initial MDS diagnosis. (E) Deep sequencing of targeted AML mutations reveals NRAS Q61K mutation at the time of AML progression, not detected at time of initial MDS presentation and representing 35% of reads in the sample from the time of AML progression.
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Bone marrow examination showed trilineage hematopoiesis, 50-60% cellularity, mild erythroid predominance and increased, atypical megakaryocytes (Fig. 1). Ultra-deep sequencing for NRAS performed using Illumina TruSight Myeloid Sequencing Panel on an Illumina MiSeq confirmed the presence of this known pathogenic mutation at the AML, but not the earlier MDS, timepoint (Fig. 1E).