Student Conference Proceedings
Vol. 2 No. 1 (2026): Stud Conf Proc
https://doi.org/10.18416/SCP.2026.2626

Medical Informatics, 2626

Copy Number Alterations in Myeloid Proliferative Neoplasms: Driver or Passenger of Leukaemic Transformation?

Main Article Content

Inken Dulige (Student), Steven Lane (1) Cancer Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia 2) Faculty of Medicine, The University of Queensland, Brisbane, QLD 4072, Australia 3) Cancer Center Services, Royal Brisbane and Women’s Hospital, Brisbane, QLD 4029, Australia), Anke Fähnrich (1) Institute of Experimental Dermatology, Universität zu Lübeck, Lübeck, Germany), Megan Bywater (1) Cancer Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia 2) Faculty of Medicine, The University of Queensland, Brisbane, QLD 4072, Australia), Jasmin Straube (1) Cancer Program, QIMR Berghofer Medical Research Institute, Brisbane, QLD 4006, Australia 2) Faculty of Medicine, The University of Queensland, Brisbane, QLD 4072, Australia)

Copyright (c) 2026 Inken Dulige; Steven Lane, Anke Fähnrich, Megan Bywater, Jasmin Straube

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This work is licensed under a Creative Commons Attribution 4.0 International License.

Abstract

Post-Myeloproliferative neoplasms Acute Myeloid Leukaemia (post-MPN AML) is commonly characterised by TP53 mutations and a high burden of Copy Number Alterations (CNAs), yet the functional contribution of CNAs to leukaemic transformation remains unclear. In this study, single-cell RNA sequencing (scRNA-seq) data from 11 JAK2V617F TP53-mutant post-MPN AML patients were integrated with a JAK2V617F Trp53-loss mouse model to identify recurrent CNAs and their molecular consequences. We demonstrate that CNAs accumulate progressively across clonal stages and affect conserved pathways including PI3K/AKT/mTOR signalling, Myc targets, DNA repair, and apoptosis. Finally, synthetic lethal analysis reveal druggable vulnerabilities, highlighting potential therapeutic targets. Our results suggest that CNAs are not passengers but drivers of leukaemic transformation.

Article Details

How to Cite

Dulige, I., Lane, S., Fähnrich, A., Bywater, M., & Straube, J. (2026). Copy Number Alterations in Myeloid Proliferative Neoplasms: Driver or Passenger of Leukaemic Transformation?. Student Conference Proceedings, 2(1), 2626. https://doi.org/10.18416/SCP.2026.2626