The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML

Stasik S, Eckardt JN, Röllig C, Baldus CD, Platzbecker U, Serve H, Müller-Tidow C, Schäfer-Eckart K, Kaufmann M, Krause S, Sauer T, Hänel M, Neubauer A, Ehninger G, Bornhäuser M, Schetelig J, Middeke JM, Thiede C (2025)

Publication Type: Journal article

Publication year: 2025

Journal

British Journal of Haematology Wiley-Blackwell

DOI: 10.1111/bjh.20027

Abstract

IKZF1 mutations are recurrent alterations in acute myeloid leukaemia (AML), and hotspot point mutation, N159S, has recently been associated with unique gene expression and adverse risk. To better understand the molecular and clinical associations of IKZF1 N159S-mutated AML, we performed a pooled analysis of 4136 AML patients. IKZF1 N159 mutations were found in 39 patients (0.94%) in a dominant clonal constellation, indicating early genetic events. N159S mutations were associated with aberrant karyotype, significantly higher rates of myelodysplasia-related gene mutations, ELN2022 adverse risk and a particularly poor outcome, supporting the classification of IKZF1 N159S-mutated AML as a rare molecular subtype with adverse prognosis.

Authors with CRIS profile

Stefan Krause Department of Medicine 5 – Haematology and Oncology

Involved external institutions

Universitätsklinikum Carl Gustav Carus Dresden DE Germany (DE) Universitätsklinikum Schleswig-Holstein (UKSH) DE Germany (DE) Universitätsklinikum Leipzig DE Germany (DE) Universitätsklinikum Frankfurt am Main (KGU) DE Germany (DE) Universitätsklinikum Heidelberg DE Germany (DE) Klinikum Nürnberg DE Germany (DE) Robert-Bosch-Krankenhaus DE Germany (DE) Klinikum Chemnitz DE Germany (DE) Philipps-Universität Marburg DE Germany (DE)

How to cite

APA:

Stasik, S., Eckardt, J.N., Röllig, C., Baldus, C.D., Platzbecker, U., Serve, H.,... Thiede, C. (2025). The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML. British Journal of Haematology. https://doi.org/10.1111/bjh.20027

MLA:

Stasik, Sebastian, et al. "The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML." British Journal of Haematology (2025).

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