The <scp> <i>IKZF1</i> N159S </scp> mutation is associated with poor outcome and a distinct molecular profile in adult patients with <scp>AML</scp>
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
- Johannes Schetelig (ORCID: https://orcid.org/0000-0002-2780-2981)
- Christian Thiede (ORCID: https://orcid.org/0000-0003-1241-2048)
- Sebastian Stasik (ORCID: https://orcid.org/0000-0003-0271-4894)
- Gerhard Ehninger (ORCID: https://orcid.org/0000-0003-0056-0422)
- Christoph Röllig (ORCID: https://orcid.org/0000-0002-3791-0548)
- Martin Bornhäuser (ORCID: https://orcid.org/0000-0002-5916-3029)
- Jan‐Niklas Eckardt (ORCID: https://orcid.org/0000-0002-3649-2823)
- Carsten Müller‐Tidow (ORCID: https://orcid.org/0000-0002-7166-5232)
- Claudia Dorothea Baldus (ORCID: https://orcid.org/0000-0002-0748-834X)
- Jan Moritz Middeke (ORCID: https://orcid.org/0000-0003-3250-293X)
- Andreas Neubauer (ORCID: https://orcid.org/0000-0002-7606-8760)
- Mathias Hänel (ORCID: https://orcid.org/0000-0002-4767-3275)
- Uwe Platzbecker (ORCID: https://orcid.org/0000-0003-1863-3239)
- Stefan W. Krause (ORCID: https://orcid.org/0000-0002-5259-4651)
- Hubert Serve (ORCID: https://orcid.org/0000-0001-8472-5516)
- Tim Sauer (ORCID: https://orcid.org/0000-0001-5412-324X)
- Martin Kaufmann (ORCID: https://orcid.org/0000-0003-0163-2205)
- Kerstin Schäfer‐Eckart
Institutions
- Goethe University Frankfurt (DE)
- Philipps University of Marburg (DE)
- Heidelberg University (DE)
- University Hospital Heidelberg (DE)
- Robert Bosch Hospital (DE)
- Universitätsklinikum Erlangen (DE)
- Nuremberg Hospital (DE)
- Klinik und Poliklinik für Psychosomatische Medizin und Psychotherapie (DE)
- National Center for Tumor Diseases (DE)
- University Hospital Schleswig-Holstein (DE)
- University Hospital Leipzig (DE)
- University Hospital Frankfurt (DE)
- University Hospital Carl Gustav Carus (DE)
- Klinikum Chemnitz (DE)
- Deutsche Knochenmarkspenderdatei (DE)
- Klinik und Poliklinik für Psychotherapie und Psychosomatik (DE)
- University of Lübeck (DE)
Publication Details
- Journal
- British Journal of Haematology
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1111/bjh.20027
- Citations
- 3
- Primary Topic
- Acute Myeloid Leukemia Research
- Type
- article
- Field-Weighted Citation Impact
- 5.31