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

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.

Basic information

Original name

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

Authors

ANGENENDT, Linus, Christoph ROELLIG, Pau MONTESINOS, Farhad RAVANDI, Gunnar JULIUSSON, Christian RECHER, Raphael ITZYKSON, Zdeněk RÁČIL (203 Czech Republic, belonging to the institution), Andrew H WEI and Christoph SCHLIEMANN

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30205 Hematology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 20.300 in 2022

RIV identification code

RIV/00216224:14110/23:00133730

Organization unit

Faculty of Medicine

DOI

http://dx.doi.org/10.1182/blood.2022018582

UT WoS

001006979900001

Keywords in English

NPM1-mutated AML

Abstract

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.

Citovat

ANGENENDT, Linus, Christoph ROELLIG, Pau MONTESINOS, Farhad RAVANDI, Gunnar JULIUSSON, Christian RECHER, Raphael ITZYKSON, Zdeněk RÁČIL, Andrew H WEI and Christoph SCHLIEMANN. Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification. Blood. Washington DC, USA: American Society of Hematology, 2023, vol. 141, No 4, p. 433-435. ISSN 0006-4971. Available from: https://dx.doi.org/10.1182/blood.2022018582.

@article{2381697,
   author = {Angenendt, Linus and Roellig, Christoph and Montesinos, Pau and Ravandi, Farhad and Juliusson, Gunnar and Recher, Christian and Itzykson, Raphael and Ráčil, Zdeněk and Wei, Andrew H and Schliemann, Christoph},
   article_location = {Washington DC, USA},
   article_number = {4},
   doi = {http://dx.doi.org/10.1182/blood.2022018582},
   keywords = {NPM1-mutated AML},
   language = {eng},
   issn = {0006-4971},
   journal = {Blood},
   title = {Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification},
   url = {https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in},
   volume = {141},
   year = {2023}
}

TY  - JOUR
ID  - 2381697
AU  - Angenendt, Linus - Roellig, Christoph - Montesinos, Pau - Ravandi, Farhad - Juliusson, Gunnar - Recher, Christian - Itzykson, Raphael - Ráčil, Zdeněk - Wei, Andrew H - Schliemann, Christoph
PY  - 2023
TI  - Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification
JF  - Blood
VL  - 141
IS  - 4
SP  - 433-435
EP  - 433-435
PB  - American Society of Hematology
SN  - 00064971
KW  - NPM1-mutated AML
UR  - https://ashpublications.org/blood/article/141/4/433/486979/Revisiting-coexisting-chromosomal-abnormalities-in
N2  - 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.
ER  -

ANGENENDT, Linus, Christoph ROELLIG, Pau MONTESINOS, Farhad RAVANDI, Gunnar JULIUSSON, Christian RECHER, Raphael ITZYKSON, Zdeněk RÁČIL, Andrew H WEI and Christoph SCHLIEMANN. Revisiting coexisting chromosomal abnormalities in NPM1-mutated AML in light of the revised ELN 2022 classification. \textit{Blood}. Washington DC, USA: American Society of Hematology, 2023, vol.~141, No~4, p.~433-435. ISSN~0006-4971. Available from: https://dx.doi.org/10.1182/blood.2022018582.

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