J 2023

Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification

ANGENENDT, Linus; Christoph ROELLIG; Pau MONTESINOS; Farhad RAVANDI; Gunnar JULIUSSON et al.

Základní údaje

Originální název

Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification

Autoři

ANGENENDT, Linus; Christoph ROELLIG; Pau MONTESINOS; Farhad RAVANDI; Gunnar JULIUSSON; Christian RECHER; Raphael ITZYKSON; Zdeněk RÁČIL; Andrew H WEI a Christoph SCHLIEMANN

Vydání

Blood, Washington DC, USA, American Society of Hematology, 2023, 0006-4971

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30205 Hematology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

Impakt faktor

Impact factor: 21.100

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/23:00133730

Organizační jednotka

Lékařská fakulta

EID Scopus

Klíčová slova anglicky

NPM1-mutated AML

Štítky

Příznaky

Mezinárodní význam, Recenzováno
Změněno: 12. 3. 2024 10:03, Mgr. Tereza Miškechová

Anotace

V originále

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.