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.
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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
Original language English
Type of outcome Article in a journal
Field of Study 30205 Hematology
Country of publisher United States of America
Confidentiality degree is not subject to a state or trade secret
WWW 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
Tags 14110212, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 12/3/2024 10:03.
Abstract
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.
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