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RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features

Gaidzik, V I ; Teleanu, V ; Papaemmanuil, E ; Weber, D ; Paschka, P ; Hahn, J ; Wallrabenstein, T ; Kolbinger, B ; Köhne, C H ; Horst, H A ; Brossart, P ; Held, G ; Kündgen, A ; Ringhoffer, M ; Götze, K ; Rummel, M ; Gerstung, M ; Campbell, P ; Kraus, J M ; Kestler, H A ; Thol, F ; Heuser, M ; Schlegelberger, B ; Ganser, A ; Bullinger, L ; Schlenk, R F ; Döhner, K ; Döhner, H

Leukemia, 2016-11, Vol.30 (11), p.2160-2168 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features
Autor: Gaidzik, V I ; Teleanu, V ; Papaemmanuil, E ; Weber, D ; Paschka, P ; Hahn, J ; Wallrabenstein, T ; Kolbinger, B ; Köhne, C H ; Horst, H A ; Brossart, P ; Held, G ; Kündgen, A ; Ringhoffer, M ; Götze, K ; Rummel, M ; Gerstung, M ; Campbell, P ; Kraus, J M ; Kestler, H A ; Thol, F ; Heuser, M ; Schlegelberger, B ; Ganser, A ; Bullinger, L ; Schlenk, R F ; Döhner, K ; Döhner, H
Assuntos: Abnormalities ; Acute myelocytic leukemia ; Acute myeloid leukemia ; Adolescent ; Age Factors ; Core Binding Factor Alpha 2 Subunit - genetics ; Diagnosis ; Disease-Free Survival ; Epigenetics ; Epigenomics ; Female ; Gene mutation ; Gene mutations ; Genetic abnormalities ; Genetic aspects ; Genomes ; Genotypes ; Health aspects ; Humans ; Leukemia ; Leukemia, Myeloid, Acute - genetics ; Leukemia, Myeloid, Acute - mortality ; Male ; Medical prognosis ; Middle Aged ; Mutation ; Myelodysplastic syndrome ; Myelodysplastic syndromes ; Prognosis ; Runx1 protein ; Sex Factors ; Spliceosomes - genetics ; Survival Rate ; Young Adult
É parte de: Leukemia, 2016-11, Vol.30 (11), p.2160-2168
Descrição: We evaluated the frequency, genetic architecture, clinico-pathologic features and prognostic impact of RUNX1 mutations in 2439 adult patients with newly-diagnosed acute myeloid leukemia (AML). RUNX1 mutations were found in 245 of 2439 (10%) patients; were almost mutually exclusive of AML with recurrent genetic abnormalities; and they co-occurred with a complex pattern of gene mutations, frequently involving mutations in epigenetic modifiers (ASXL1, IDH2, KMT2A, EZH2), components of the spliceosome complex (SRSF2, SF3B1) and STAG2, PHF6, BCOR. RUNX1 mutations were associated with older age (16-59 years: 8.5%; ⩾60 years: 15.1%), male gender, more immature morphology and secondary AML evolving from myelodysplastic syndrome. In univariable analyses, RUNX1 mutations were associated with inferior event-free (EFS, P<0.0001), relapse-free (RFS, P=0.0007) and overall survival (OS, P<0.0001) in all patients, remaining significant when age was considered. In multivariable analysis, RUNX1 mutations predicted for inferior EFS (P=0.01). The effect of co-mutation varied by partner gene, where patients with the secondary genotypes RUNX1 /ASXL1 (OS, P=0.004), RUNX1 /SRSF2 (OS, P=0.007) and RUNX1 /PHF6 (OS, P=0.03) did significantly worse, whereas patients with the genotype RUNX1 /IDH2 (OS, P=0.04) had a better outcome. In conclusion, RUNX1-mutated AML is associated with a complex mutation cluster and is correlated with distinct clinico-pathologic features and inferior prognosis.
Editor: England: Nature Publishing Group
Idioma: Inglês

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RUNX1 mutations in acute myeloid leukemia are associated with distinct clinico-pathologic and genetic features

England: Nature Publishing Group

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