Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers

Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving...

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Published inBlood Vol. 136; no. 6; pp. 698 - 714
Main Authors Fagnan, Alexandre, Bagger, Frederik Otzen, Piqué-Borràs, Maria-Riera, Ignacimouttou, Cathy, Caulier, Alexis, Lopez, Cécile K., Robert, Elie, Uzan, Benjamin, Gelsi-Boyer, Véronique, Aid, Zakia, Thirant, Cécile, Moll, Ute, Tauchmann, Samantha, Kurtovic-Kozaric, Amina, Maciejewski, Jaroslaw, Dierks, Christine, Spinelli, Orietta, Salmoiraghi, Silvia, Pabst, Thomas, Shimoda, Kazuya, Deleuze, Virginie, Lapillonne, Hélène, Sweeney, Connor, De Mas, Véronique, Leite, Betty, Kadri, Zahra, Malinge, Sébastien, de Botton, Stéphane, Micol, Jean-Baptiste, Kile, Benjamin, Carmichael, Catherine L., Iacobucci, Ilaria, Mullighan, Charles G., Carroll, Martin, Valent, Peter, Bernard, Olivier A., Delabesse, Eric, Vyas, Paresh, Birnbaum, Daniel, Anguita, Eduardo, Garçon, Loïc, Soler, Eric, Schwaller, Juerg, Mercher, Thomas
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 06.08.2020
American Society of Hematology
Subjects
Adult
Animals
Cell Transformation, Neoplastic - genetics
Dioxygenases
DNA-Binding Proteins - deficiency
DNA-Binding Proteins - genetics
DNA-Binding Proteins - physiology
Erythroblasts - metabolism
Erythropoiesis - genetics
Exome Sequencing
Female
GATA1 Transcription Factor - deficiency
GATA1 Transcription Factor - genetics
Gene Knock-In Techniques
Genetic Heterogeneity
Hematopoietic Stem Cells - metabolism
Humans
Leukemia, Erythroblastic, Acute - genetics
Life Sciences
Male
Mice
Mice, Inbred C57BL
Mice, Inbred NOD
Mice, Transgenic
Middle Aged
Mutation
Myeloid Neoplasia
Neoplasm Proteins - genetics
Neoplasm Proteins - physiology
Neoplastic Stem Cells - metabolism
Proto-Oncogene Proteins - deficiency
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins - physiology
Radiation Chimera
Repressor Proteins - genetics
Repressor Proteins - physiology
RNA-Seq
Transcription Factors - genetics
Transcription Factors - physiology
Transcriptional Regulator ERG - genetics
Transcriptional Regulator ERG - physiology
Transcriptome
Young Adult
Online AccessGet full text
ISSN0006-4971
1528-0020
1528-0020
DOI10.1182/blood.2019003062

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Abstract Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells. •Transcriptomes cluster most AEL apart from other myeloid malignancies.•Alterations of AEL erythroid master regulators impair GATA1 activity and induce the disease in mice. [Display omitted]
AbstractList Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells. •Transcriptomes cluster most AEL apart from other myeloid malignancies.•Alterations of AEL erythroid master regulators impair GATA1 activity and induce the disease in mice. [Display omitted]
Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells.Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells.
Publisher's Note: There is a Blood Commentary on this article in this issue. Transcriptomes cluster most AEL apart from other myeloid malignancies. Alterations of AEL erythroid master regulators impair GATA1 activity and induce the disease in mice. Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53 -mutated, epigenetic regulator-mutated (eg, DNMT3A , TET2 , or IDH2 ), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI , ERG , and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells.
Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells often carry complex karyotypes and mutations in known AML-associated oncogenes. To better define the underlying molecular mechanisms driving the erythroid phenotype, we studied a series of 33 AEL samples representing 3 genetic AEL subgroups including TP53-mutated, epigenetic regulator-mutated (eg, DNMT3A, TET2, or IDH2), and undefined cases with low mutational burden. We established an erythroid vs myeloid transcriptome-based space in which, independently of the molecular subgroup, the majority of the AEL samples exhibited a unique mapping different from both non-M6 AML and myelodysplastic syndrome samples. Notably, >25% of AEL patients, including in the genetically undefined subgroup, showed aberrant expression of key transcriptional regulators, including SKI, ERG, and ETO2. Ectopic expression of these factors in murine erythroid progenitors blocked in vitro erythroid differentiation and led to immortalization associated with decreased chromatin accessibility at GATA1-binding sites and functional interference with GATA1 activity. In vivo models showed development of lethal erythroid, mixed erythroid/myeloid, or other malignancies depending on the cell population in which AEL-associated alterations were expressed. Collectively, our data indicate that AEL is a molecularly heterogeneous disease with an erythroid identity that results in part from the aberrant activity of key erythroid transcription factors in hematopoietic stem or progenitor cells.
Author Vyas, Paresh
Fagnan, Alexandre
Mercher, Thomas
Dierks, Christine
Robert, Elie
Piqué-Borràs, Maria-Riera
Lopez, Cécile K.
Spinelli, Orietta
Soler, Eric
Shimoda, Kazuya
Carmichael, Catherine L.
Ignacimouttou, Cathy
Valent, Peter
Garçon, Loïc
Iacobucci, Ilaria
Sweeney, Connor
Carroll, Martin
Malinge, Sébastien
Thirant, Cécile
Micol, Jean-Baptiste
Lapillonne, Hélène
de Botton, Stéphane
Mullighan, Charles G.
Uzan, Benjamin
Pabst, Thomas
Schwaller, Juerg
Deleuze, Virginie
Salmoiraghi, Silvia
Leite, Betty
Caulier, Alexis
Aid, Zakia
Moll, Ute
Kadri, Zahra
Maciejewski, Jaroslaw
Bagger, Frederik Otzen
Tauchmann, Samantha
Kile, Benjamin
Anguita, Eduardo
Birnbaum, Daniel
Bernard, Olivier A.
Kurtovic-Kozaric, Amina
Gelsi-Boyer, Véronique
De Mas, Véronique
Delabesse, Eric
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/32350520$$D View this record in MEDLINE/PubMed
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F.O.B., M.-R.P.-B., and C.I. contributed equally as second author.
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Snippet Acute erythroleukemia (AEL or acute myeloid leukemia [AML]-M6) is a rare but aggressive hematologic malignancy. Previous studies showed that AEL leukemic cells...
Publisher's Note: There is a Blood Commentary on this article in this issue. Transcriptomes cluster most AEL apart from other myeloid malignancies. Alterations...
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StartPage 698
SubjectTerms Adult
Animals
Cell Transformation, Neoplastic - genetics
Dioxygenases
DNA-Binding Proteins - deficiency
DNA-Binding Proteins - genetics
DNA-Binding Proteins - physiology
Erythroblasts - metabolism
Erythropoiesis - genetics
Exome Sequencing
Female
GATA1 Transcription Factor - deficiency
GATA1 Transcription Factor - genetics
Gene Knock-In Techniques
Genetic Heterogeneity
Hematopoietic Stem Cells - metabolism
Humans
Leukemia, Erythroblastic, Acute - genetics
Life Sciences
Male
Mice
Mice, Inbred C57BL
Mice, Inbred NOD
Mice, Transgenic
Middle Aged
Mutation
Myeloid Neoplasia
Neoplasm Proteins - genetics
Neoplasm Proteins - physiology
Neoplastic Stem Cells - metabolism
Proto-Oncogene Proteins - deficiency
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins - physiology
Radiation Chimera
Repressor Proteins - genetics
Repressor Proteins - physiology
RNA-Seq
Transcription Factors - genetics
Transcription Factors - physiology
Transcriptional Regulator ERG - genetics
Transcriptional Regulator ERG - physiology
Transcriptome
Young Adult
Title Human erythroleukemia genetics and transcriptomes identify master transcription factors as functional disease drivers
URI https://dx.doi.org/10.1182/blood.2019003062
https://www.ncbi.nlm.nih.gov/pubmed/32350520
https://www.proquest.com/docview/2396855944
https://hal.science/hal-03022044
https://pubmed.ncbi.nlm.nih.gov/PMC8215330
Volume 136
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