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Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident

ABSTRACT: Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident

PROVIDER: PRJNA512145 | ENA |

REPOSITORIES: ENA

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Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident

Project description:Genomic Characteristics of Myeloproliferative Neoplasms in Patients Exposed to Ionizing Radiation following the Chernobyl Nuclear Accident

| PRJNA512144 | ENA

Myelodysplastic/myeloproliferative neoplasms

Project description: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

2010-06-30 | E-GEOD-21991 | biostudies-arrayexpress

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

Characteristics of myeloproliferative neoplasms in patients exposed to ionizing radiation following the Chernobyl nuclear accident.

Project description:Myeloproliferative neoplasms (MPNs) driver mutations are usually found in JAK2, MPL, and CALR genes; however, 10%-15% of cases are triple negative (TN). A previous study showed lower rate of JAK2 V617F in primary myelofibrosis patients exposed to low doses of ionizing radiation (IR) from Chernobyl accident. To examine distinct driver mutations, we enrolled 281 Ukrainian IR-exposed and unexposed MPN patients. Genomic DNA was obtained from peripheral blood leukocytes. JAK2 V617F, MPL W515, types 1- and 2-like CALR mutations were identified by Sanger Sequencing and real time polymerase chain reaction. Chromosomal alterations were assessed by oligo-SNP microarray platform. Additional genetic variants were identified by whole exome and targeted sequencing. Statistical significance was evaluated by Fisher's exact test and Wilcoxon's rank sum test (R, version 3.4.2). IR-exposed MPN patients exhibited a different genetic profile vs unexposed: lower rate of JAK2 V617F (58.4% vs 75.4%, P = .0077), higher rate of type 1-like CALR mutation (12.2% vs 3.1%, P = .0056), higher rate of TN cases (27.8% vs 16.2%, P = .0366), higher rate of potentially pathogenic sequence variants (mean numbers: 4.8 vs 3.1, P = .0242). Furthermore, we identified several potential drivers specific to IR-exposed TN MPN patients: ATM p.S1691R with copy-neutral loss of heterozygosity at 11q; EZH2 p.D659G at 7q and SUZ12 p.V71 M at 17q with copy number loss. Thus, IR-exposed MPN patients represent a group with distinct genomic characteristics worthy of further study.

| S-EPMC6371805 | biostudies-literature

Comprehensive profiing of clinical JAK inhibitors in myeloproliferative neoplasms

Project description:Comprehensive profiing of clinical JAK inhibitors in myeloproliferative neoplasms

2023-05-24 | GSE229712 | GEO

Genetic charcterization of myeloproliferative neoplasms (MPN)

Project description:Genetic charcterization of myeloproliferative neoplasms (MPN)

| PRJNA1162027 | ENA

JAK2V617F Impairs Lymphoid Differentiation in Myeloproliferative Neoplasms

Project description:JAK2V617F Impairs Lymphoid Differentiation in Myeloproliferative Neoplasms

| PRJNA1122535 | ENA

Targeting the CALR Interactome in Myeloproliferative Neoplasms

Project description:Targeting the CALR Interactome in Myeloproliferative Neoplasms

| PRJNA491714 | ENA

Genetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predispose to myeloproliferative neoplasms

Project description:Genome-wide association study of JAK2 V617F negative myeloproliferative neoplasms consisting of 524 cases at stage 1

2015-02-20 | E-MTAB-3340 | biostudies-arrayexpress

Platelet Proteome in Myeloproliferative Neoplasms

Project description:Patients with chronic Myeloproliferative Neoplasms (MPN) including polycythaemia vera (PV) and essential thrombocythemia (ET) exhibit unique clinical features, such as a tendency toward thrombosis and hemorrhage, and risk of disease progression to secondary bone marrow fibrosis and/or acute leukemia. Although an increase in blood cell lineage counts (quantitative features) contribute to these morbid sequelae, the significant qualitative abnormalities of myeloid cells that contribute to vascular risk are not well understood. Here, we address this critical knowledge gap via a comprehensive and untargeted profiling (using label free quantitative mass spectrometry) of the platelet proteome in a large (n= 140) cohort of patients (from two independent sites) with an established diagnosis of PV and ET. We discover distinct MPN platelet protein expression and confirm key molecular impairments associated with proteostasis and thrombosis mechanisms of potential relevance to MPN pathology.

2024-10-17 | PXD046324 | Pride

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