biostudies-literatureUnknown114(4)Wakita SNucleophosmin1 (NPM1) mutations are the most frequently detected gene mutations in acute myeloid leukemia (AML) and are considered a favorable prognostic factor. We retrospectively analyzed the prognosis of 605 Japanese patients with de novo AML, including 174 patients with NPM1-mutated AML. Although patients with NPM1-mutated AML showed a high remission rate, this was not a favorable prognostic factor for overall survival (OS); this is contrary to generally accepted guidelines. Comprehensive gene mutation analysis showed that mutations in codon R882 of DNA methyltransferase 3A (DNMT3A^R882 mutations) were a strong predicative factor indicating poor prognosis in all AML (p < 0.0001) and NPM1-mutated AML cases (p = 0.0020). Furthermore, multivariate analysis of all AML cases showeCancer science1297-1308https://www.ebi.ac.uk/biostudies/studies/S-EPMC10067428biostudies-literatureMutational analysis of DNMT3A improves the prognostic stratification of patients with acute myeloid leukemia.PMC10067428Kawata EMotomura SKubota YKitano TKimura STashiro HMorita KUoshima NKako SFukuda TSakaguchi MUeki TUsuki KMitsuhashi KKanda MKanda YMarumo AMori SYamaguchi HTadokoro JNakayama KNagao YOgata MDoki NUchida NSato EKurosawa SHashimoto AMuto HKanda JShibusawa MKuroda JAndo JNajima YShono KMiyata MSatake AHagihara MUchiyama HKobayashi YItabashi KArai KToya TYui SNagoshi HArai HWakita SIchinohe TfalseMutational analysis of DNMT3A improves the prognostic stratification of patients with acute myeloid leukemia.Nucleophosmin1 (NPM1) mutations are the most frequently detected gene mutations in acute myeloid leukemia (AML) and are considered a favorable prognostic factor. We retrospectively analyzed the prognosis of 605 Japanese patients with de novo AML, including 174 patients with NPM1-mutated AML. Although patients with NPM1-mutated AML showed a high remission rate, this was not a favorable prognostic factor for overall survival (OS); this is contrary to generally accepted guidelines. Comprehensive gene mutation analysis showed that mutations in codon R882 of DNA methyltransferase 3A (DNMT3A^R882 mutations) were a strong predicative factor indicating poor prognosis in all AML (p < 0.0001) and NPM1-mutated AML cases (p = 0.0020). Furthermore, multivariate analysis of all AML cases showe2023-01-01T00:00:00Z2023 Apr2025-04-04T10:42:12.973Z2025-04-04T10:42:12.973ZS-EPMC100674283661000210.1111/cas.15720