Somatic Mutational Analysis using Next Generation Sequencing in Predicting Disease Behavior of Cytogenetically Normal Myelodysplastic Syndromes

Myelodysplastic syndromes (MDS) are myeloid neoplasms characterized by peripheral blood cytopenias, with associated morphologic dysplasias, and recurrent cytogenetic abnormalities. However, approximately 40-50% of MDS have no detectable cytogenetic abnormalities or cytogenetically-normal (CN-MDS). MDS cases with concurrent cytogenetics/FISH and molecular testing were identified from a two-year cohort with a median time to follow-up of 506 days. A total of 153 MDS were gathered, and we identified 58 patients with CN-MDS. Somatic mutations were seen in 93% of the CN-MDS patients, involving a variety of cellular pathways.