This review will focus on the molecular basis of certain polycythemic disorders. Primary polycythemias are characterized by acquired somatic or inherited germ-line mutations expressed within hematopoietic progenitors that cause increased accumulation of red blood cells. Polycythemia vera (PV), an acquired condition, is the most common primary polycythemia; although some progress has been made in the understanding of PV, its molecular basis remains unknown. In contrast, recent advances in delineating the molecular defects of some inherited polycythemias have greatly furthered our knowledge of the regulation of erythropoiesis and hypoxia sensing; however, more work needs to be done.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
The Association Between Janus Kinase 2 and Factor V Leiden Mutations and Thrombotic Complications in Patients With Myeloproliferative Disorders: A Study From Saudi Arabia.
Cureus
November 2024
Clinical Hematology, Khamis Mushait General Hospital, Khamis Mushait, SAU.
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.
View Article and Find Full Text PDFHMGA2 overexpression with specific chromosomal abnormalities predominate in CALR and ASXL1 mutated myelofibrosis.
Leukemia
December 2024
Division of Hematology/Oncology, Department of Medicine, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
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.
View Article and Find Full Text PDFCausal relationship between 731 immune cells and the risk of myeloproliferative neoplasms: A 2-sample bidirectional Mendelian randomization study.
Medicine (Baltimore)
December 2024
Department of Hematology and Oncology, Ningbo No.2 Hospital, Ningbo, Zhejiang, China.
Myeloproliferative neoplasms (MPN) are chronic hematological disorders marked by the abnormal proliferation of bone marrow cells. The most commonly encountered forms are polycythemia vera (PV), primary myelofibrosis (PMF), and essential thrombocythemia (ET). These disorders are generally associated with increases in blood components, which can lead to conditions like splenomegaly, thrombosis, bleeding tendencies, and a heightened risk of progressing to acute leukemia.
View Article and Find Full Text PDFCharacteristics, blood counts, treatments, and clinical outcomes of 5871 patients with polycythemia vera treated in US community practices.
Curr Med Res Opin
December 2024
Incyte Corporation, Wilmington, DE, USA.
Objective: This study aimed to describe clinical characteristics-including blood counts and pharmacologic cytoreductive treatment patterns-and outcomes after 6 months of hydroxyurea (HU) treatment among patients with polycythemia vera (PV) in US community practices.
Methods: This retrospective observational study included adult patients with a PV diagnosis (1JAN2008-31JAN2020) and ≥2 postdiagnosis visits in the iKnowMed electronic health record database (US Oncology Network and non-Network clinics). Suboptimal HU response required ≥1 criterion after ≥3 months of treatment: white blood cell count (WBC) >10 × 10/L, platelet count >400 × 10/L, and/or hematocrit >45%.
Although rare, neurological complications following electroconvulsive therapy (ECT) can have significant consequences. Recognizing patient populations that may be at high risk of neurological complications following ECT can reduce the likelihood of these patients developing such complications. We report a case of a patient with a history of polycythemia vera presenting with a worsening episode of depression with psychotic features who demonstrated a significant change in neurological status following ECT, suspected to be due to cerebral ischemia.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!