CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition

Abstract B-cell acute lymphoblastic leukemia (B-ALL) is a leading cause of death in childhood and outcomes in adults remain dismal. There is therefore an urgent clinical need for therapies that target the highest risk cases. Mutations in the histone acetyltransferase CREBBP confer high-risk and incr...

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Main Authors: Alicia Garcia-Gimenez, Jonathan E. Ditcham, Dhoyazan M. A. Azazi, George Giotopoulos, Ryan Asby, Eshwar Meduri, Jaana Bagri, Nathalie Sakakini, Cecile K. Lopez, Nisha Narayan, Tumas Beinortas, Shuchi Agrawal-Singh, Kent Fung, David O’Connor, Marc R. Mansour, Husam B. R. Alabed, Benjamin Jenkins, Albert Koulman, Michael P. Murphy, Sarah J. Horton, Brian J. P. Huntly, Simon E. Richardson
Format: Article
Language:English
Published: Nature Portfolio 2025-05-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-025-59531-6
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author Alicia Garcia-Gimenez
Jonathan E. Ditcham
Dhoyazan M. A. Azazi
George Giotopoulos
Ryan Asby
Eshwar Meduri
Jaana Bagri
Nathalie Sakakini
Cecile K. Lopez
Nisha Narayan
Tumas Beinortas
Shuchi Agrawal-Singh
Kent Fung
David O’Connor
Marc R. Mansour
Husam B. R. Alabed
Benjamin Jenkins
Albert Koulman
Michael P. Murphy
Sarah J. Horton
Brian J. P. Huntly
Simon E. Richardson
author_facet Alicia Garcia-Gimenez
Jonathan E. Ditcham
Dhoyazan M. A. Azazi
George Giotopoulos
Ryan Asby
Eshwar Meduri
Jaana Bagri
Nathalie Sakakini
Cecile K. Lopez
Nisha Narayan
Tumas Beinortas
Shuchi Agrawal-Singh
Kent Fung
David O’Connor
Marc R. Mansour
Husam B. R. Alabed
Benjamin Jenkins
Albert Koulman
Michael P. Murphy
Sarah J. Horton
Brian J. P. Huntly
Simon E. Richardson
author_sort Alicia Garcia-Gimenez
collection DOAJ
description Abstract B-cell acute lymphoblastic leukemia (B-ALL) is a leading cause of death in childhood and outcomes in adults remain dismal. There is therefore an urgent clinical need for therapies that target the highest risk cases. Mutations in the histone acetyltransferase CREBBP confer high-risk and increased chemoresistance in ALL. Performing a targeted drug-screen in isogenic human cell lines, we identify a number of small molecules that specifically target CREBBP-mutated B-ALL, the most potent being the BCL2-inhibitor Venetoclax. Of note, this acts through a non-canonical mechanism resulting in ferroptotic rather than apoptotic cell death. CREBBP-mutated cell lines show differences in cell-cycle, metabolism, lipid composition and response to oxidative stress, predisposing them to ferroptosis, which are further dysregulated upon acquisition of Venetoclax resistance. Lastly, small-molecule inhibition of CREBBP pharmacocopies CREBBP-mutation, sensitizing B-ALL cells, regardless of genotype, to Venetoclax-induced ferroptosis in-vitro and in-vivo, providing a promising drug combination for broader clinical translation in B-ALL.
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spelling doaj-art-dbf4ab90906c4dfda7f0cfd40de23b872025-08-20T01:53:14ZengNature PortfolioNature Communications2041-17232025-05-0116112110.1038/s41467-025-59531-6CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibitionAlicia Garcia-Gimenez0Jonathan E. Ditcham1Dhoyazan M. A. Azazi2George Giotopoulos3Ryan Asby4Eshwar Meduri5Jaana Bagri6Nathalie Sakakini7Cecile K. Lopez8Nisha Narayan9Tumas Beinortas10Shuchi Agrawal-Singh11Kent Fung12David O’Connor13Marc R. Mansour14Husam B. R. Alabed15Benjamin Jenkins16Albert Koulman17Michael P. Murphy18Sarah J. Horton19Brian J. P. Huntly20Simon E. Richardson21Department of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteUniversity College London Cancer Institute, UCLUniversity College London Cancer Institute, UCLUniversity College London Cancer Institute, UCLInstitute of Metabolic Science, University of CambridgeInstitute of Metabolic Science, University of CambridgeInstitute of Metabolic Science, University of CambridgeMRC Mitochondrial Biology Unit, Keith Peters Building, University of CambridgeDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteDepartment of Haematology, Cambridge Stem Cell InstituteAbstract B-cell acute lymphoblastic leukemia (B-ALL) is a leading cause of death in childhood and outcomes in adults remain dismal. There is therefore an urgent clinical need for therapies that target the highest risk cases. Mutations in the histone acetyltransferase CREBBP confer high-risk and increased chemoresistance in ALL. Performing a targeted drug-screen in isogenic human cell lines, we identify a number of small molecules that specifically target CREBBP-mutated B-ALL, the most potent being the BCL2-inhibitor Venetoclax. Of note, this acts through a non-canonical mechanism resulting in ferroptotic rather than apoptotic cell death. CREBBP-mutated cell lines show differences in cell-cycle, metabolism, lipid composition and response to oxidative stress, predisposing them to ferroptosis, which are further dysregulated upon acquisition of Venetoclax resistance. Lastly, small-molecule inhibition of CREBBP pharmacocopies CREBBP-mutation, sensitizing B-ALL cells, regardless of genotype, to Venetoclax-induced ferroptosis in-vitro and in-vivo, providing a promising drug combination for broader clinical translation in B-ALL.https://doi.org/10.1038/s41467-025-59531-6
spellingShingle Alicia Garcia-Gimenez
Jonathan E. Ditcham
Dhoyazan M. A. Azazi
George Giotopoulos
Ryan Asby
Eshwar Meduri
Jaana Bagri
Nathalie Sakakini
Cecile K. Lopez
Nisha Narayan
Tumas Beinortas
Shuchi Agrawal-Singh
Kent Fung
David O’Connor
Marc R. Mansour
Husam B. R. Alabed
Benjamin Jenkins
Albert Koulman
Michael P. Murphy
Sarah J. Horton
Brian J. P. Huntly
Simon E. Richardson
CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
Nature Communications
title CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
title_full CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
title_fullStr CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
title_full_unstemmed CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
title_short CREBBP inactivation sensitizes B cell acute lymphoblastic leukemia to ferroptotic cell death upon BCL2 inhibition
title_sort crebbp inactivation sensitizes b cell acute lymphoblastic leukemia to ferroptotic cell death upon bcl2 inhibition
url https://doi.org/10.1038/s41467-025-59531-6
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