Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification
| Autoři | |
|---|---|
| Rok publikování | 2023 |
| Druh | Článek v odborném periodiku |
| Časopis / Zdroj | Blood |
| Fakulta / Pracoviště MU | |
| Citace | |
| www | https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in |
| Doi | http://dx.doi.org/10.1182/blood.2022018582 |
| Klíčová slova | NPM1-mutated AML |
| Popis | Mutations in the nucleophosmin 1 (NPM1) gene are among the most frequent genetic alterations in patients with acute myeloid leukemia (AML) and have been associated with a favorable prognosis.1,2 In 2019, in a large international collaborative study, we have reported that cytogenetic abnormalities are important determinants of outcome in NPM1-mutated (NPM1mut) AML.3 We showed that intensively treated patients with NPM1mut AML and coexisting adverse-risk cytogenetics shared the same unfavorable prognosis as their NPM1 wild-type (NPM1WT) counterparts. This was a new finding, because the European LeukemiaNet (ELN) 2017 classification considered the NPM1mut status (in the absence of an FLT3-ITD mutation with a high allelic ratio) favorable regardless of accompanying chromosomal abnormalities, in full analogy to core-binding factor AML.4 As a consequence, in the recently published ELN 2022 genetic risk classification of AML, the presence of adverse-risk cytogenetics now defines adverse-risk in NPM1mut AML.5 Other key changes made to the previous ELN classification included the addition of further disease-defining recurrent cytogenetic abnormalities to the adverse-risk group [ie, t(3q26.2;v) and t(8;16)(p11;p13)]. In turn, hyperdiploid karyotypes with multiple (?3) trisomies or polysomies in the absence of structural abnormalities are no longer considered as complex karyotypes.5,6 Even though the combination of an NPM1 mutation with adverse chromosomal aberrations is a rare event (~3%), the impact of cytogenetics in NPM1mut AML has important implications for postremission treatment decisions. |