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Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Myelodysplastic/myeloproliferative neoplasms

ABSTRACT: This SuperSeries is composed of the following subset Series: GSE21948: High Density custom Agilent 44K CGH array analysis of 7q and TET2 region in myelodysplastic/myeloproliferative neoplasms GSE21990: Affymetrix SNP 6.0 array data for myelodysplastic/myeloproliferative neoplasms Refer to individual Series

ORGANISM(S): Homo sapiens

SUBMITTER: Andy Chase

PROVIDER: E-GEOD-21991 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders.

Ernst Thomas T Chase Andrew J AJ Score Joannah J Hidalgo-Curtis Claire E CE Bryant Catherine C Jones Amy V AV Waghorn Katherine K Zoi Katerina K Ross Fiona M FM Reiter Andreas A Hochhaus Andreas A Drexler Hans G HG Duncombe Andrew A Cervantes Francisco F Oscier David D Boultwood Jacqueline J Grand Francis H FH Cross Nicholas C P NC

Nature genetics 20100704 8

Abnormalities of chromosome 7q are common in myeloid malignancies, but no specific target genes have yet been identified. Here, we describe the finding of homozygous EZH2 mutations in 9 of 12 individuals with 7q acquired uniparental disomy. Screening of a total of 614 individuals with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals; the mutations were found most commonly in those with myelodysplastic/myeloproliferative neoplasms (27 out of 219 individuals, ...[more]

PMID: 20601953

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High Density custom Agilent 44K CGH array analysis of 7q and TET2 region in myelodysplastic/myeloproliferative neoplasms

Project description:Abnormalities of chromosome 7q are common in myeloid malignancies. Agilent CGH arrays targeted to 7q and Affymetrix SNP 6.0 arrays were used to characterise 7q aUPD and deletions. Sample #017 in this data series showed a microdeletion encompassing EZH2. Screening of a total of 614 cases with myeloid disorders revealed 49 monoallelic or biallelic EZH2 mutations in 42 individuals, most commonly myelodysplastic/myeloproliferative neoplasms (27/219; 12%) and myelofibrosis (4/30; 13%). EZH2 encodes the catalytic subunit of the Polycomb repressive complex 2 (PRC2), the highly conserved histone H3 lysine 27 methyltransferase that influences stem cell renewal by epigenetic repression of genes involved in cell fate decisions. EZH2 has oncogenic activity and its overexpression has been causally linked to differentiation blocks in epithelial tumors. Unexpectedly, the mutations we identified resulted in premature chain termination or direct abrogation of histone methyltransferase activity, suggesting that EZH2 acts as a tumor suppressor for myeloid malignancies. High density CGH array analysis of 7q and the TET2 region in 8 atypical myeloproliferative neoplasms

2010-06-30 | E-GEOD-21948 | biostudies-arrayexpress

Project description:Myelodysplastic/myeloproliferative neoplasms

| PRJNA127209 | ENA

Small molecule inhibitors of lysyl oxidases synergize with 5-azacytidine to restore erythropoiesis in myeloid neoplasms

Project description:In this study, we assessed the effects of lysyl oxidase (LOX/LOXL) inhibition on the composition of extracellular matrix (ECM) produced by in vitro expanded bone marrow derived mesenchymal stromal cells (MSCs) of n=3 patients with myelodysplastic syndromes (MDS) and myeloproliferative neoplasms (MPN).

2023-02-17 | PXD031217 | Pride

Description of the microRNA repertoire of leucocytes of patients suffering from atypical myeloproliferative syndromes

Project description:Atypical Myeloproliferative Neoplasms (aMPN) share characteristics of MPN and Myelodysplastic Syndromes (MDS). Although anomalies of tyrosine-kinases or proteins involved in cytokine signaling are common in MPN, the pathophysiology of atypical MPN is still elusive. Since deregulation of microRNAs has been involved in the biology of various cancers, we screened the miRNome of aMPN compared to CML or reactive hyperleukocytosis (RHL) states. The study highligths the overexpression of miR-10a in the aMPN group We analysed the microRNA repertoire of blood leukocyte RNA from patients with aMPN (n=16), CML (n=10) or reactive hyperleukocytosis (n=4)

2016-09-01 | E-GEOD-75666 | biostudies-arrayexpress

IGR_Itzykson_CMML

Project description:Genomic studies in chronic myeloid malignancies, including myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS) and MPN/MDS, have identified common mutations in genes encoding signaling, epigenetic, transcription and splicing factors. Analysis of 18 of these genes in a cohort of 224 chronic myelomonocytic leukemias (CMML), which is the most frequent MPN/MDS, identified at least one mutated gene in 95% of the patients, with some of the mutations affecting the disease phenotype. The number of mutated genes negatively affected progression-free and overall survival in multivariate analysis. Analysis of sorted progenitors indicated an early amplification of the CMML clone at the CD34+/CD38- stage of hematopoiesis, together with a premature granulomonocytic differentiation skewing. We interrogated the clone architecture by mutation-specific discrimination analysis of single-cell-derived colonies. The genetic classification of individual colonies allowed a designation of sub-clones and the assembly of putative evolutionary trees, indicating a linear acquisition of the studied mutations. Analysis of matched pre- and post-treatment samples demonstrated clonal persistence with limited and selective elimination of sub-clones. The disease was characterized by an amplification of multipotent and common myeloid progenitors in the CD34+ compartment, both fractions showing increased granulomonocytic differentiation at the expense of erythroid progenitors, contrasting with normal granulomonocytic progenitors. Altogether, early amplification of the leukemic clone and increased granulomonocytic differentiation of early progenitors may account for the specificity of CMML among myeloid neoplasms. This experiment correspond to the analysis of gene expression profiles in total CD34+ cells from the peripheral blood of 15 patients (Chronic Myelomonocytic Leukemia) and 4 healthy controls.

2013-01-17 | E-MTAB-1044 | biostudies-arrayexpress

Homo sapiens

Project description:Affymetrix SNP 6.0 array data for myelodysplastic/myeloproliferative neoplasms

| PRJNA129383 | ENA

Description of the microRNA repertoire of leucocytes of patients suffering from atypical myeloproliferative syndromes

2017-12-01 | GSE75666 | GEO

Pathophysiology of arterial cardiovascular events in patients with JAK2V617F myeloproliferative neoplasms

Project description:Cardiovascular events are the leading cause of death in patients with JAK2V617F myeloproliferative neoplasms. Their mechanisms are poorly understood. To investigate the role of microvesicles in these events, we performed a proteomic analysis of microvesicles derived from red blood cells from mice with a myeloproliferative neoplasms (Jak2V617F Flex/WT ;VE-cadherin-Cre) vs. littermate controls.

2020-02-17 | PXD014451 | Pride

Dnmt3a regulates myeloproliferation and liver-specific homing and expansion of hematopoietic stem and progenitor cells (Bisulfite-Seq)

Project description:DNMT3A mutations are observed in myeloid malignancies, including myeloproliferative neoplasms (MPN), myelodysplastic syndromes (MDS), and acute myeloid leukemia (AML). Here we investigated the impact of conditional hematopoietic Dnmt3a loss on disease phenotype in primary mice. Dnmt3a ablation led to a lethal, fully penetrant myeloproliferative neoplasm with myelodysplasia (MDS/MPN) characterized by marked, progressive hepatomegaly that was transplantable. We detected expanded stem/progenitor populations in the liver of Dnmt3a-ablated mice. Homing studies showed that Dnmt3a-deleted bone marrow cells preferentially migrated to the liver. Hence, in addition to the established role of Dnmt3a in regulating self-renewal, Dnmt3a regulates tissue tropism and limits myeloid progenitor expansion in vivo.

2016-04-24 | GSE74165 | GEO

Dnmt3a regulates myeloproliferation and liver-specific homing and expansion of hematopoietic stem and progenitor cells (RNA-Seq)

2016-04-24 | GSE74161 | GEO

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