RUNX1 mutation has no prognostic significance in paediatric AML: a retrospective study of the AML-BFM study group

In acute myeloid leukaemia (AML) RUNX1 mutation is characterised by certain clinicopathological features with poor prognosis and adverse risk by the European LeukemiaNet recommendation. Though initially considered as provisional category, the recent World Health Organisation (WHO) classification of...

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Bibliographic Details
Published in:Leukemia 2023-07, Vol.37 (7), p.1435-1443
Main Authors: Sendker, Stephanie, Awada, Amani, Domagalla, Sophia, Sendker, Michael, Orhan, Eser, Hoffmeister, Lina Marie, Antoniou, Evangelia, Niktoreh, Naghmeh, Reinhardt, Dirk, von Neuhoff, Nils, Schneider, Markus
Format: Article
Language:English
Subjects:
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631/67/1990/283/1897
692/699/1541/1990/283/1897
Acute myeloid leukemia
Cancer Research
Child
Core Binding Factor Alpha 2 Subunit - genetics
Critical Care Medicine
Hematology
Humans
Intensive
Internal Medicine
Leukemia
Leukemia, Myeloid, Acute - pathology
Male
Medical prognosis
Medicine
Medicine & Public Health
Mutation
Nucleophosmin
Oncology
Pediatrics
Prognosis
Retrospective Studies
Runx1 protein
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Summary:In acute myeloid leukaemia (AML) RUNX1 mutation is characterised by certain clinicopathological features with poor prognosis and adverse risk by the European LeukemiaNet recommendation. Though initially considered as provisional category, the recent World Health Organisation (WHO) classification of 2022 removed RUNX1 -mutated AML from the unique entity. However, the significance of RUNX1 mutation in paediatric AML remains unclear. We retrospectively analysed a German cohort of 488 paediatric patients with de novo AML, enroled in the AMLR12 or AMLR17 registry of the AML-BFM Study Group (Essen, Germany). A total of 23 paediatric AML patients (4.7%) harboured RUNX1 mutations, 18 of which (78%) had RUNX1 mutation at initial diagnosis. RUNX1 mutations were associated with older age, male gender, number of coexisting alterations and presence of FLT3 -ITD but mutually exclusive of KRAS , KIT and NPM1 mutation. RUNX1 mutations did not prognostically impact overall or event-free survival. Response rates did not differ between patients with and without RUNX1 mutations. This comprehensive study, comprising the largest analysis of RUNX1 mutation in a paediatric cohort to date, reveals distinct but not unique clinicopathologic features, with no prognostic significance of RUNX1 -mutated paediatric AML. These results broaden the perspective on the relevance of RUNX1 alterations in leukaemogenesis in AML.
ISSN:0887-6924
1476-5551
1476-5551
DOI:10.1038/s41375-023-01919-8