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Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.

Title: Direct targeted therapy for MLL-fusion-driven high-risk acute leukaemias.
Authors: Cantilena, Sandra; Gasparoli, Luca; Pal, Deepali; Heidenreich, Olaf; Klusmann, Jan-Henning; Martens, Joost HA; Faille, Alexandre; Warren, Alan J; Karsa, Mawar; Pandher, Ruby; Somers, Klaartje; Williams, Owen; de Boer, Jasper
Source: essn: 2001-1326 ; nlmid: 101597971
Publisher Information: Wiley
Publication Year: 2022
Collection: Apollo - University of Cambridge Repository
Subject Terms: MLL-fusion; leukaemia; mouse models; precision medicine; targeted therapy; Acute Disease; Apoptosis; Cell Proliferation; Child; Epigenesis; Genetic; Humans; Infant; Leukemia; Oncogene Proteins; Fusion
Description: BACKGROUND: Improving the poor prognosis of infant leukaemias remains an unmet clinical need. This disease is a prototypical fusion oncoprotein-driven paediatric cancer, with MLL (KMT2A)-fusions present in most cases. Direct targeting of these driving oncoproteins represents a unique therapeutic opportunity. This rationale led us to initiate a drug screening with the aim of discovering drugs that can block MLL-fusion oncoproteins. METHODS: A screen for inhibition of MLL-fusion proteins was developed that overcomes the traditional limitations of targeting transcription factors. This luciferase reporter-based screen, together with a secondary western blot screen, was used to prioritize compounds. We characterized the lead compound, disulfiram (DSF), based on its efficient ablation of MLL-fusion proteins. The consequences of drug-induced MLL-fusion inhibition were confirmed by cell proliferation, colony formation, apoptosis assays, RT-qPCR, in vivo assays, RNA-seq and ChIP-qPCR and ChIP-seq analysis. All statistical tests were two-sided. RESULTS: Drug-induced inhibition of MLL-fusion proteins by DSF resulted in a specific block of colony formation in MLL-rearranged cells in vitro, induced differentiation and impeded leukaemia progression in vivo. Mechanistically, DSF abrogates MLL-fusion protein binding to DNA, resulting in epigenetic changes and down-regulation of leukaemic programmes setup by the MLL-fusion protein. CONCLUSION: DSF can directly inhibit MLL-fusion proteins and demonstrate antitumour activity both in vitro and in vivo, providing, to our knowledge, the first evidence for a therapy that directly targets the initiating oncogenic MLL-fusion protein.
Document Type: article in journal/newspaper
File Description: application/pdf
Language: English
Relation: PMC9214753; https://www.repository.cam.ac.uk/handle/1810/339424
DOI: 10.17863/CAM.86835
Availability: https://www.repository.cam.ac.uk/handle/1810/339424; https://doi.org/10.17863/CAM.86835
Rights: Attribution 4.0 International ; https://creativecommons.org/licenses/by/4.0/
Accession Number: edsbas.D3C38274
Database: BASE