Transcriptomics,Genomics

Dataset Information

22

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


ABSTRACT: 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. Overall design: Gene expression profile (GEP) and miRNA expression profile (miEP) were performed starting from the same total RNA of CD34+ cells from 50 MPN patients (1 replicate for each sample). In particular, GEP and miEP were performed on 26 PV and 24 ET (n=17 JAK2V617F-positive ET, n=7 CALR-mutated ET). In addition, 15 bone marrow (BM) samples collected from normal donors were included in the study (GSE53482). These re-analyzed samples have been included in this series for completeness. This series includes only the miEP samples.

INSTRUMENT(S): [miRNA-2] Affymetrix Multispecies miRNA-2 Array

SUBMITTER: Rossella Manfredini  

PROVIDER: GSE103238 | GEO | 2018-03-01

REPOSITORIES: GEO

altmetric image

Publications


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 harbor the V617F mutation in the exon 14 of JAK2 gene, while about 20-30% of ET patients carry CALRins5 or CALRdel52 mutations. These ET CALR-mutated subjects show higher platelet count and lower thrombotic risk compared to JAK2-mutated patients. Here, we showed t  ...[more]

Similar Datasets

| GSE103237 | GEO
2014-06-03 | E-GEOD-54644 | ArrayExpress
2013-07-23 | E-GEOD-41812 | ArrayExpress
| GSE120362 | GEO
2014-06-03 | E-GEOD-54645 | ArrayExpress
| GSE120363 | GEO
| GSE54645 | GEO
2018-08-06 | E-MTAB-6878 | ArrayExpress
| GSE42721 | GEO
2010-04-06 | GSE9827 | GEO