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Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations

ABSTRACT: Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations

PROVIDER: PRJNA400612 | ENA |

REPOSITORIES: ENA

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Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [miEP]

Project description:Polycythemia vera (PV) and essential thrombocythemia (ET) are Philadelphia-negative myeloproliferative neoplasms (MPNs) characterized by erythrocytosis and thrombocytosis, respectively. Approximately 95% of PV and 50–70% of ET patients harbour the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CARL-mutated subjects show higher platelet count and lower thrombotic risk compared to JAK2-mutated patients. Here we showed that CALR-mutated and JAK2V617F-positive CD34+ cells have different gene and miRNA expression profiles. Indeed, we highlighted several pathways differentially activated between JAK2V617F- and CALR-mutated progenitors, i.e. mTOR, MAPK/PI3K and MYC pathways. Furthermore, we unveiled that the expression of several genes involved in DNA repair, chromatin remodelling, splicing and chromatid cohesion are decreased in CALR-mutated cells. According to the low risk of thrombosis in CALR-mutated patients, we also found the down-regulation of several genes involved in thrombin signalling and platelet activation. As a whole, these data support the model in which CALR-mutated ET could be considered as a distinct disease entity from JAK2V617F-positive MPNs and may provide the molecular basis supporting the different clinical features of these patients.

2018-03-01 | GSE103238 | GEO

Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [GEP]

2018-03-01 | GSE103237 | GEO

Gene expression data from CD34+ BMMCs/PBMCs from JAK2V617F positive and CALR mutated MPN patients

Project description:Philadelphia chromosome-negative myeloproliferative neoplasms (MPN) consist of primary myelofibrosis (PMF), polycythemia vera (PV), essential thrombocythemia (ET) In this dataset, we compare the gene expression data of patients JAK2V617F vs. CALR-mutated MPN patients.

2018-10-29 | GSE120362 | GEO

Changes of miRNA expression in granulocytes of patients with polycythemia vera (PV) and essential thrombocythemia (ET) receiving INCB018424 in a Phase 2 study

2012-09-26 | GSE32194 | GEO

Investigating the proteome of red blood cells and reticulocytes in Polycythemia Vera and Essential Thrombocythemia

Project description:The project aims at comparing the effect of the JAK2V617F mutation on protein expression in human erythroid cells in the context of Polycythemia Vera and Essential Thrombocythemia

2022-02-17 | PXD029965 | Pride

Changes of miRNA expression in granulocytes of patients with polycythemia vera (PV) and essential thrombocythemia (ET) receiving INCB018424 in a Phase 2 study

Project description:A global microRNA expression profile was obtained from gradient-purified granulocytes (>95% pure) collected at the time of screening and at cycle 4 of treatment Protocol #18424-256 is a Phase 2 study of the JAK1 and JAK2 inhibitor INCB01842 in patients with advanced polycythemia vera (PV) and essential thrombocythemia (ET) refractory to hydroxyurea; The aim was to to determine whether treatment with INC180424 was associated with changes in the global microRNA expression profile we compared granulocytes collected at baseline (screening) and at cycle 4

2012-09-26 | E-GEOD-32194 | biostudies-arrayexpress

Homo sapiens

Project description:Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [GEP]

| PRJNA400620 | ENA

Homo sapiens

Project description:Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [miEP]

| PRJNA400660 | ENA

Quantitative Analysis of the erythrocyte membrane proteins in polycythemia vera patients treated with hydroxycarbamide

Project description:Polycythemia vera (PV) is a myeloproliferative disorder arising in pluripotent stem cells that causes an abnormal erythrocyte mass. More than 90% of PV patients have a mutation in JAK2 protein that is closely associated with the erythrocyte membrane. We report findings on quantitative analysis of the erythrocyte membrane proteins differentially regulated in PV patients treated with hydroxycarbamide.</br>Kottahachchi et al., EuPA Open Proteomics 7, 43-53</br>Quantitative analysis of the erythrocyte membrane proteins in polycythemia vera patients treated with hydroxycarbamide</br>DOI:10.1016/j.euprot.2015.04.001</br><a href="http://www.sciencedirect.com/science/article/pii/S2212968515000100">http://www.sciencedirect.com/science/article/pii/S2212968515000100</a>

2015-05-11 | PXD001532 | Pride

Analysis of gene expression in JAK2 exon 12-mutant erythroblasts

Project description:For 13 patients with JAK2 exon 12-mutated polycythemia vera (PV), we compared genome-wide RNA profiles of JAK2-mutant (mutant) and wild-type erythroid colonies, grown from a single patient in the same culture plate. This paired approach controls for factors including age, gender, treatment, germline genetic background and experimental conditions (Chen et al, Cancer Cell 2010). Burst forming unit-erythroid (BFU-E) colonies were cultured from peripheral blood as previously described (Godfrey et al, Blood 2012) using 0.1U/ml erythropoietin (at which concentration known JAK2-target genes show differential expression between wild-type and JAK2-mutant cells). Colonies were pooled by genotype and RNA analysed using Illumina Human-12 v4.0 Expression BeadChips.

2015-10-04 | E-MTAB-3946 | biostudies-arrayexpress

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