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

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F23%3A00133730" target="_blank" >RIV/00216224:14110/23:00133730 - isvavai.cz</a>

Výsledek na webu

<a href="https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in" target="_blank" >https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1182/blood.2022018582" target="_blank" >10.1182/blood.2022018582</a>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30205 - Hematology

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Blood

ISSN

0006-4971

e-ISSN

1528-0020

Svazek periodika

141

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

3

Strana od-do

433-435

Kód UT WoS článku

001006979900001

EID výsledku v databázi Scopus

2-s2.0-85145274466