High number of additional genetic lesions in acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1: frequency and impact on clinical outcome
doi: 10.1038/leu.2014.4
pmid: 24402164
High number of additional genetic lesions in acute myeloid leukemia with t(8;21)/RUNX1-RUNX1T1: frequency and impact on clinical outcome
t(8;21)/RUNX1-RUNX1T1-positive acute myeloid leukemia (AML) is prognostically favorable; however, outcome is heterogeneous. We analyzed 139 patients with t(8;21)/RUNX1-RUNX1T1-positive AML (de novo: n=117; therapy-related: n=22) to determine frequency and prognostic impact of additional genetic abnormalities. All patients were investigated for mutations (mut) in ASXL1, FLT3, KIT, NPM1, MLL, IDH1, IDH2, KRAS, NRAS, CBL and JAK2. Sixty-nine of 139 cases (49.6%) had 1 mutation in addition to RUNX1-RUNX1T1, and 23/139 (16.5%) had ⩾2 additional mutations. Most common were KITmut (23/139; 16.5%), NRASmut (18/139; 12.9%) and ASXL1mut (16/139; 11.5%). FLT3-ITD, FLT3-TKDmut, CBLmut, KRASmut, IDH2mut and JAK2mut were found in 2.9-5.0%. Additional chromosomal abnormalities (ACAs) were found in 97/139 (69.8%). Two-year overall survival (OS) was 73.4% in 111 intensively treated patients. KITD816mut negatively impacted on OS in de novo AML (2-year OS: 59.1% vs 82.0%, P=0.03), ASXL1mut on EFS (de novo AML: 20% vs 59.1%, P=0.011; total cohort: 28.6% vs 56.7%, P=0.021). Sex chromosome loss was favorable (2-year EFS: 66.9% vs 43.0%, P=0.031), whereas +8 was adverse on EFS (2-year EFS: 26.7% vs 55.9%, P=0.02). In conclusion, t(8;21)/RUNX1-RUNX1T1-positive AML shows a high frequency of additional genetic alterations. Investigation for KITD816 and ASXL1mut combined with investigation of ACAs is recommended in t(8;21)/RUNX1-RUNX1T1-positive AML because of the prognostic significance of these parameters.
- Munich Leukemia Laboratory (Germany) Germany
- Medical University of Vienna Austria
Adult, Aged, 80 and over, Chromosome Aberrations, Male, Adolescent, Oncogene Proteins, Fusion, Chromosomes, Human, Pair 21, Gene Expression Regulation, Leukemic, Middle Aged, Prognosis, Leukemia, Myeloid, Acute, Gene Frequency, Core Binding Factor Alpha 2 Subunit, Mutation, Humans, Female, Nucleophosmin, Genetic Association Studies, Aged, Chromosomes, Human, Pair 8
Adult, Aged, 80 and over, Chromosome Aberrations, Male, Adolescent, Oncogene Proteins, Fusion, Chromosomes, Human, Pair 21, Gene Expression Regulation, Leukemic, Middle Aged, Prognosis, Leukemia, Myeloid, Acute, Gene Frequency, Core Binding Factor Alpha 2 Subunit, Mutation, Humans, Female, Nucleophosmin, Genetic Association Studies, Aged, Chromosomes, Human, Pair 8
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