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[Analysis of Genes Related to Platelet Activation in Essential Thrombocythemia Based on Transcriptomics].

Zhongguo Shi Yan Xue Ye Xue Za Zhi

December 2024

Department of Hematology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing 100091, China.

Objective: To analyze the genes related to platelet activation in essential thrombocythemia (ET) based on transcriptome sequencing technology (RNA-seq), and to explore the potential targets related to ET thrombosis.

Methods: Blood samples from ET patients and healthy individuals were collected for RNA-seq, and differentially expressed lncRNAs, miRNAs, and mRNAs were selected to construct a lncRNA-miRNA-mRNA regulatory network. Differential mRNAs in the regulatory network were enriched and analyzed using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG).

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Background: Elevated vitamin B12 (B12) levels are linked to an increased risk of cancers, including hematological malignancies. This study focuses on the relationship between elevated B12 and myeloproliferative neoplasms (MPNs): Polycythemia Vera (PV), Primary Myelofibrosis (MF), Essential Thrombocytosis (ET), and Chronic Myeloid Leukemia (CML). Elevated B12 in MPNs is believed to arise from increased transcobalamin I (TCI) secretion by proliferating leukocytes, leading to higher serum levels.

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[Peginterferon alfa-2a monotherapy in essential thrombocythemia].

Bull Cancer

December 2024

Service de thérapie cellulaire et hématologie clinique, CHU de Clermont-Ferrand, 63100 Clermont-Ferrand, France; EA7453 CHELTER, université Clermont-Auvergne, Clermont-Ferrand, France.

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Background The Janus kinase 2 (JAK2) V617F mutations are related to increased thrombotic risk in patients with myeloproliferative disorders (MPDs). However, little is known about whether inherited thrombophilia represents an additive risk factor in mutated subjects. We addressed the association between combined mutations of JAK2 and factor V Leiden (FVL) and thrombotic complications in Saudi Arabian patients with MPDs.

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Although multiple genetic events are thought to play a role in promoting progression of the myeloproliferative neoplasms (MPN), the individual events that are associated with the development of more aggressive disease phenotypes remain poorly defined. Here, we report that novel genomic deletions at chromosome 12q14.3, as detected by a high-resolution array comparative genomic hybridization plus single nucleotide polymorphisms platform, occur in 11% of MPN patients with myelofibrosis (MF) and MPN-accelerated/blast phase (AP/BP) but was not detected in patients with polycythemia vera or essential thrombocythemia.

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