The IKZF1 N159S mutation is associated with poor outcome and a distinct molecular profile in adult patients with AML
Year: 2025
Type: article
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.
Source: British Journal of Haematology
DOI: 10.1111/bjh.20027
Authors: Sebastian Stasik, Jan‐Niklas Eckardt, Christoph Röllig, Claudia D. Baldus, Uwe Platzbecker, Hubert Serve, Carsten Müller‐Tidow, Kerstin Schäfer‐Eckart, Martin Kaufmann, Stefan W. Krause, Tim Sauer, Mathias Hänel, Andreas Neubauer, Gerhard Ehninger, Martin Bornhäuser, Johannes Schetelig, Jan M. Middeke, Christian Thiede, the Study Alliance Leukemia (SAL)
Institutions: University Hospital Carl Gustav Carus, Technische Universität Dresden, University Hospital Schleswig-Holstein, University Hospital Leipzig, University Hospital Frankfurt, Heidelberg University, University Hospital Heidelberg, Nuremberg Hospital, Robert Bosch Hospital, Universitätsklinikum Erlangen, Klinikum Chemnitz, Philipps University of Marburg, Nationales Centrum für Tumorerkrankungen Dresden
Language: English
Subfield: Hematology
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
Estimated APC paid: $5,190
OpenAlex ID: W4408244241