NCBI Logo
GEO Logo
   NCBI > GEO > Accession DisplayHelp Not logged in | LoginHelp
GEO help: Mouse over screen elements for information.
          Go
Series GSE103238 Query DataSets for GSE103238
Status Public on Mar 01, 2018
Title Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations [miEP]
Platform organism synthetic construct
Sample organism Homo sapiens
Experiment type Non-coding RNA profiling by array
Summary 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.
 
Contributor(s) Zini R, Guglielmelli P, Pietra D, Rumi E, Rossi C, Rontauroli S, Genovese E, Fanelli T, Calabresi L, Bianchi E, Salati S, Cazzola M, Tagliafico E, Vannucchi AM, Manfredini R
Citation(s) 29217833
Submission date Aug 29, 2017
Last update date Jul 25, 2021
Contact name Rossella Manfredini
E-mail(s) manfredini.rossella@unimore.it
Phone +390592058065
Organization name Centre for Regenerative Medicine
Department Life Sciences
Street address Via Gottardi 100
City Modena
ZIP/Postal code 41100
Country Italy
 
Platforms (1)
GPL14613 [miRNA-2] Affymetrix Multispecies miRNA-2 Array
Samples (65)
GSM2758744 BM CD34+ cells from patient 2485 (miEP)
GSM2758745 BM CD34+ cells from patient 2766 (miEP)
GSM2758746 BM CD34+ cells from patient 3057 (miEP)
This SubSeries is part of SuperSeries:
GSE103176 Gene and miRNA expression profiles in Polycythemia Vera and Essential Thrombocythemia according to CALR and JAK2 mutations
Relations
BioProject PRJNA400660

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE103238_RAW.tar 39.2 Mb (http)(custom) TAR (of CEL)
Processed data included within Sample table
| NLM | NIH | GEO Help | Disclaimer | Accessibility |
NCBI Home NCBI Search NCBI SiteMap