MDS/AML and AML with myelodysplasia-related gene mutations: clinical and molecular similarities

Acute myeloid leukemia Acute myeloid leukemia: (uh-KYOOT my-uh-LOYD loo-KEE-mee-uh) A cancer of the blood cells. It happens when very young white blood cells (blasts) in the bone marrow fail to mature. The blast cells stay in the bone marrow and become to numerous. This slows production of red blood cells and platelets. Some cases of MDS become… (AML) is driven by diverse genetic abnormalities. We investigated clinical and molecular differences between clinically defined secondary AML following antecedent MDS, molecularly defined secondary type AML (st-AML), molecularly defined MDS/AML (st-MDS/AML; 10%-19% blasts blasts: See Blast Cells. ) and other newly diagnosed AML (de novo AML). We also examined the prognostic value of molecular measurable residual disease (MRD) in st-AML. This retrospective cohort study included 2684 intensively treated patients with AML. Diagnostic (n = 2684) and complete remission (CR; n = 436) samples were sequenced using a 54-gene panel targeting frequently mutated genes in AML. Odds ratios were calculated to show the association between mutated genes and clinically defined sAML or de novo de novo: (di-NO-vo) Brand new, referring to the first time something occurs. MDS that is untreated or that has no known cause is called de novo MDS. AML. Clinical outcomes of interest were overall survival (OS) and cumulative incidence of relapse (CIR). Not only the established mutations in ASXL1, BCOR, EZH2, SF3B1, SRSF2, STAG2, U2AF1 and ZRSR2 but also ETV6 was significantly associated with clinically defined sAML, which defined the molecular signature for st-MDS/AML and st-AML. No OS differences were observed between st-MDS/AML and st-AML. Molecularly defined st-AML, now combined with st-MDS/AML, had worse OS compared with ELN2022 favorable- (5-year OS 39.9% vs 70.4%; P< .001) and intermediate-risk (5-year OS 39.9% vs 48.9%; P = .005) patients with AML. MRD based solely on secondary type mutations lacked predictive value, whereas MRD of non-DTA mutations in CR was associated with increased CIR in st-AML (subdistribution hazard ratio [SHR] 3.25; P< .001). Molecularly defined st-AML, including st-MDS/AML, defines a distinct AML category with a unique genetic, clinical and treatment response profile, in which next-generation sequencing (NGS)-based MRD holds markedly prognostic significance.