Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F23%3A00132558" target="_blank" >RIV/00216224:14110/23:00132558 - isvavai.cz</a>
Result on the web
<a href="https://www.nature.com/articles/s41375-023-02061-1" target="_blank" >https://www.nature.com/articles/s41375-023-02061-1</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41375-023-02061-1" target="_blank" >10.1038/s41375-023-02061-1</a>
Alternative languages
Result language
angličtina
Original language name
Mutated IKZF1 is an independent marker of adverse risk in acute myeloid leukemia
Original language description
Genetic lesions of IKZF1 are frequent events and well-established markers of adverse risk in acute lymphoblastic leukemia. However, their function in the pathophysiology and impact on patient outcome in acute myeloid leukemia (AML) remains elusive. In a multicenter cohort of 1606 newly diagnosed and intensively treated adult AML patients, we found IKZF1 alterations in 45 cases with a mutational hotspot at N159S. AML with mutated IKZF1 was associated with alterations in RUNX1, GATA2, KRAS, KIT, SF3B1, and ETV6, while alterations of NPM1, TET2, FLT3-ITD, and normal karyotypes were less frequent. The clinical phenotype of IKZF1-mutated AML was dominated by anemia and thrombocytopenia. In both univariable and multivariable analyses adjusting for age, de novo and secondary AML, and ELN2022 risk categories, we found mutated IKZF1 to be an independent marker of adverse risk regarding complete remission rate, event-free, relapse-free, and overall survival. The deleterious effects of mutated IKZF1 also prevailed in patients who underwent allogeneic hematopoietic stem cell transplantation (n = 519) in both univariable and multivariable models. These dismal outcomes are only partially explained by the hotspot mutation N159S. Our findings suggest a role for IKZF1 mutation status in AML risk modeling.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Leukemia
ISSN
0887-6924
e-ISSN
1476-5551
Volume of the periodical
37
Issue of the periodical within the volume
12
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
2395-2403
UT code for WoS article
001085283400001
EID of the result in the Scopus database
2-s2.0-85174216120