MECOM copy number alterations identify a new group of myeloid neoplasms with a poor prognosis

Abstract Objective Myeloid neoplasms (MNs) harboring inv(3)(q21q26)/t(3;3)(q21;q26) or MECOM gene rearrangements as identified by fluorescence in situ hybridization (FISH) are known to carry a poor prognosis. The objective of this study is assess prognostic impact MNs with copy number alterations (CNA) compared inv(3)/t(3;3) rearrangements. We present those initial comparative results and secondarily whether genetic mutations that confer worse clinical outcome also associated CNA. Methods A retrospective review electronic pathology records was performed at Beth Israel Deaconess Medical Center. All from 2016 – current FISH (Abbott Molecular, Abbott Park, IL) confirmed analyses were extracted. Other additional items extracted included karyotype next-generation sequencing (NGS) 65 myeloid panel (SmartGenomics Profile, PathGroup, Nashville, TN). Kaplan-Meier ANOVA using GraphPad Prism (San Diego, CA). Results total 307 cases which performed. Exclusion lacking inv(3)/t(3;3), rearrangement, CNA provided an cohort 20 cases. 5 had rearrangement 7 without 8 13 complex karyotype, monosomal 10 both karyotype. Of the demonstrated CNA, NGS on 16 Genes be significant negative overall survival (OS) include ASXL1, EZH2, IDH2, KRAS, NRAS, RAD21, RUNX1, SRSF2, STAG2, TP53 single multiple found 9 analysis revealed no difference OS among three aberration groupings (Log-rank test; p=0.77). Single factor enrichment for high risk (p=0.04) when Summary Our aberrations reveal display similarly Additionally, group enriched groups. Overall, new prognosis mutational profile.