Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia

22 pages, 7 figures, supplementary information https://doi.org/10.1038/s41467-024-49811-y.-- Data availability: The raw RNA-seq data of AML patients have been previously used in another study152 and are available at the European Genome-phenome Archive (EGA) under accession number EGAS00001004684. Al...

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Autores: Mulet-Lazaro, Roger, Herk, Stanley van, Nuetzel, Margit, Sijs-Szabo, Aniko, Díaz, Noelia, Kelly, Katherine, Erpelinck-Verschueren, Claudia, Schwarzfischer-Pfeilschifter, Lucia, Stanewsky, Hanna, Ackermann, Ute, Glatz, Dagmar, Raithel, Johanna, Fischer, Alexander, Pohl, Sandra, Rijneveld, Anita, Vaquerizas Erdocia, Juan Manuel, Thiede, Christian, Plass, Christoph, Wouters, Bas J., Delwel, Ruud, Rehli, Michael, Gebhard, Claudia
Tipo de documento: artigo
Estado:Versão publicada
Data de publicação:2024
País:España
Recursos:Consejo Superior de Investigaciones Científicas (CSIC)
Repositório:DIGITAL.CSIC. Repositorio Institucional del CSIC
OAI Identifier:oai:digital.csic.es:10261/365728
Acesso em linha:http://hdl.handle.net/10261/365728
Access Level:Acceso aberto
Palavra-chave:http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
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dc.title.none.fl_str_mv Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
title Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
spellingShingle Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
Mulet-Lazaro, Roger
http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
title_short Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
title_full Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
title_fullStr Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
title_full_unstemmed Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
title_sort Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemia
dc.creator.none.fl_str_mv Mulet-Lazaro, Roger
Herk, Stanley van
Nuetzel, Margit
Sijs-Szabo, Aniko
Díaz, Noelia
Kelly, Katherine
Erpelinck-Verschueren, Claudia
Schwarzfischer-Pfeilschifter, Lucia
Stanewsky, Hanna
Ackermann, Ute
Glatz, Dagmar
Raithel, Johanna
Fischer, Alexander
Pohl, Sandra
Rijneveld, Anita
Vaquerizas Erdocia, Juan Manuel
Thiede, Christian
Plass, Christoph
Wouters, Bas J.
Delwel, Ruud
Rehli, Michael
Gebhard, Claudia
author Mulet-Lazaro, Roger
author_facet Mulet-Lazaro, Roger
Herk, Stanley van
Nuetzel, Margit
Sijs-Szabo, Aniko
Díaz, Noelia
Kelly, Katherine
Erpelinck-Verschueren, Claudia
Schwarzfischer-Pfeilschifter, Lucia
Stanewsky, Hanna
Ackermann, Ute
Glatz, Dagmar
Raithel, Johanna
Fischer, Alexander
Pohl, Sandra
Rijneveld, Anita
Vaquerizas Erdocia, Juan Manuel
Thiede, Christian
Plass, Christoph
Wouters, Bas J.
Delwel, Ruud
Rehli, Michael
Gebhard, Claudia
author_role author
author2 Herk, Stanley van
Nuetzel, Margit
Sijs-Szabo, Aniko
Díaz, Noelia
Kelly, Katherine
Erpelinck-Verschueren, Claudia
Schwarzfischer-Pfeilschifter, Lucia
Stanewsky, Hanna
Ackermann, Ute
Glatz, Dagmar
Raithel, Johanna
Fischer, Alexander
Pohl, Sandra
Rijneveld, Anita
Vaquerizas Erdocia, Juan Manuel
Thiede, Christian
Plass, Christoph
Wouters, Bas J.
Delwel, Ruud
Rehli, Michael
Gebhard, Claudia
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Agencia Estatal de Investigación (España)
Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]
dc.subject.none.fl_str_mv http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
topic http://metadata.un.org/sdg/3
Ensure healthy lives and promote well-being for all at all ages
description 22 pages, 7 figures, supplementary information https://doi.org/10.1038/s41467-024-49811-y.-- Data availability: The raw RNA-seq data of AML patients have been previously used in another study152 and are available at the European Genome-phenome Archive (EGA) under accession number EGAS00001004684. All the other raw sequencing data derived from donors or patients have been generated in this study and are deposited at the EGA under accession number EGAS00001007094. This EGA study includes the following datasets: MCIP-seq, RNA-seq, ATAC-seq, ChIP-seq (H3K27ac, CTCF, SPI1, CEBPA, TCF7), and Hi-C. Since these data are derived from human subjects, they are only available under restricted access, which can be requested for each dataset separately on the EGA website. Requestors must sign a data access agreement outlining the terms and conditions for data use and fill in a form specifying their research question. Requests will be processed within 1 week, and the data will be available for a maximum of 2 years unless an appeal for extension is submitted. Processed data are publicly available in ArrayExpress with the following identifiers: E-MTAB-13117 (CTCF ChIP-seq), E-MTAB-13118 (ATAC-seq), E-MTAB-13119 (H3K27ac ChIP-seq), E-MTAB-13120 (MCIP-seq), E-MTAB-13121 (RNA-seq), E-MTAB-13122 (Hi-C), E-MTAB-14060 (TF ChIP-seq). The remaining data are available within the Article, Supplementary Information, and Source Data that accompany this article. In addition, we have used publicly available data from the ENCODE78 and FANTOM93 consortia, as well as a single-cell RNA-seq dataset of hematopoietic cells obtained from the Gene Expression Omnibus (GEO) database under the accession code GSE149938143. We also used Illumina Infinium MethylationEPIC data from T-ALL25 (GSE147667) and AML26 (GSE159907). Source data are provided with this paper.-- Code availability: All software tools employed in this study are freely or commercially available (see Methods). R code used in the analysis of the data presented here can be found in Supplementary Code 1
publishDate 2024
dc.date.none.fl_str_mv 2024
2024
2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
http://purl.org/coar/resource_type/c_6501
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dc.identifier.none.fl_str_mv http://hdl.handle.net/10261/365728
url http://hdl.handle.net/10261/365728
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv https://doi.org/10.1038/s41467-024-49811-y

dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
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dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:DIGITAL.CSIC. Repositorio Institucional del CSIC
instname:Consejo Superior de Investigaciones Científicas (CSIC)
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spelling Epigenetic alterations affecting hematopoietic regulatory networks as drivers of mixed myeloid/lymphoid leukemiaMulet-Lazaro, RogerHerk, Stanley vanNuetzel, MargitSijs-Szabo, AnikoDíaz, NoeliaKelly, KatherineErpelinck-Verschueren, ClaudiaSchwarzfischer-Pfeilschifter, LuciaStanewsky, HannaAckermann, UteGlatz, DagmarRaithel, JohannaFischer, AlexanderPohl, SandraRijneveld, AnitaVaquerizas Erdocia, Juan ManuelThiede, ChristianPlass, ChristophWouters, Bas J.Delwel, RuudRehli, MichaelGebhard, Claudiahttp://metadata.un.org/sdg/3Ensure healthy lives and promote well-being for all at all ages22 pages, 7 figures, supplementary information https://doi.org/10.1038/s41467-024-49811-y.-- Data availability: The raw RNA-seq data of AML patients have been previously used in another study152 and are available at the European Genome-phenome Archive (EGA) under accession number EGAS00001004684. All the other raw sequencing data derived from donors or patients have been generated in this study and are deposited at the EGA under accession number EGAS00001007094. This EGA study includes the following datasets: MCIP-seq, RNA-seq, ATAC-seq, ChIP-seq (H3K27ac, CTCF, SPI1, CEBPA, TCF7), and Hi-C. Since these data are derived from human subjects, they are only available under restricted access, which can be requested for each dataset separately on the EGA website. Requestors must sign a data access agreement outlining the terms and conditions for data use and fill in a form specifying their research question. Requests will be processed within 1 week, and the data will be available for a maximum of 2 years unless an appeal for extension is submitted. Processed data are publicly available in ArrayExpress with the following identifiers: E-MTAB-13117 (CTCF ChIP-seq), E-MTAB-13118 (ATAC-seq), E-MTAB-13119 (H3K27ac ChIP-seq), E-MTAB-13120 (MCIP-seq), E-MTAB-13121 (RNA-seq), E-MTAB-13122 (Hi-C), E-MTAB-14060 (TF ChIP-seq). The remaining data are available within the Article, Supplementary Information, and Source Data that accompany this article. In addition, we have used publicly available data from the ENCODE78 and FANTOM93 consortia, as well as a single-cell RNA-seq dataset of hematopoietic cells obtained from the Gene Expression Omnibus (GEO) database under the accession code GSE149938143. We also used Illumina Infinium MethylationEPIC data from T-ALL25 (GSE147667) and AML26 (GSE159907). Source data are provided with this paper.-- Code availability: All software tools employed in this study are freely or commercially available (see Methods). R code used in the analysis of the data presented here can be found in Supplementary Code 1Leukemias with ambiguous lineage comprise several loosely defined entities, often without a clear mechanistic basis. Here, we extensively profile the epigenome and transcriptome of a subgroup of such leukemias with CpG Island Methylator Phenotype. These leukemias exhibit comparable hybrid myeloid/lymphoid epigenetic landscapes, yet heterogeneous genetic alterations, suggesting they are defined by their shared epigenetic profile rather than common genetic lesions. Gene expression enrichment reveals similarity with early T-cell precursor acute lymphoblastic leukemia and a lymphoid progenitor cell of origin. In line with this, integration of differential DNA methylation and gene expression shows widespread silencing of myeloid transcription factors. Moreover, binding sites for hematopoietic transcription factors, including CEBPA, SPI1 and LEF1, are uniquely inaccessible in these leukemias. Hypermethylation also results in loss of CTCF binding, accompanied by changes in chromatin interactions involving key transcription factors. In conclusion, epigenetic dysregulation, and not genetic lesions, explains the mixed phenotype of this group of leukemias with ambiguous lineage. The data collected here constitute a useful and comprehensive epigenomic reference for subsequent studies of acute myeloid leukemias, T-cell acute lymphoblastic leukemias and mixed-phenotype leukemiasThis work was funded by grants from the following organizations: (1) Dutch Cancer Foundation: EMCR 2015-7935 (R.D.), EMCR 2015-7550 (B.W.); (2) Leukemia & Lymphoma Society (LLS), Special Fellowship in Clinical Research: Grant # 4317-16 (B.W.); (3) Deutsche Forschungsgemeinschaft SPP2202 Priority Program: GE 202/1-1 (C.G. and J.M.V); (4) Medical Research Council: UK MC_UP_1605/10 (J.M.V.); (5) the Academy of Medical Sciences and the Department of Business, Energy and Industrial Strategy: APR3\1017 (J.M.V.); (6) German Cancer Aid (M.R.); (7) Wilhelm Sander Stiftung (M.R.); (8) Krebshilfe Antrag 111602 (M.R.)With the institutional support of the ‘Severo Ochoa Centre of Excellence’ accreditation (CEX2019-000928-S)Peer reviewedNature Publishing GroupAgencia Estatal de Investigación (España)Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]202420242024info:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_6501Publisher's versioninfo:eu-repo/semantics/publishedVersionhttp://hdl.handle.net/10261/365728reponame:DIGITAL.CSIC. Repositorio Institucional del CSICinstname:Consejo Superior de Investigaciones Científicas (CSIC)Ingléshttps://doi.org/10.1038/s41467-024-49811-ySíinfo:eu-repo/semantics/openAccessoai:digital.csic.es:10261/3657282026-05-22T06:33:51Z
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