Objective: To determine the prevalence of JAK2 V617F mutation and its clinical correlation in patients with chronic myeloproliferative disorders (CMD): polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF).
Materials And Methods: Detection of JAK2 V617F mutation by allele specific-PCR.
Results: One hundred and three patients with CMD were included in the study. JAK2 V617F distribution was PV 40/45 (89%), ET 30/43 (69%), and IMF 7/15 (47%). In PV and ET patients only, 18 had thrombosis at diagnosis and 12 during follow-up (these were microvascular: 11, venous: 7 and arterial: 12); of these 28/70 (40%) were JAK2pos versus 2/18 (11%) JAK2neg; P=0.02. In a median of 4 years, two patients with PV JAK2pos evolved to myelofibrosis and one patient with PV presented in leukemic transformation (JAK2pos before and after transformation); six patients died: four patients with IMF and two patients with PV.
Conclusions: We found an association between JAK2 V617F and thrombotic events in patients with PV and ET.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1179/102453309X12473408860226 | DOI Listing |
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 PDFMolecular and Clinical Risk Factors Associated with Thrombosis and Bleeding in Myelofibrosis Patients.
Hamostaseologie
December 2024
Klinik für Innere Medizin II, Abteilung Hämatologie und Internistische Onkologie, Universitätsklinikum Jena, Jena, Germany.
Background: The risk of thrombosis and bleeding in myelofibrosis (MF) has been historically underappreciated. We sought to investigate potential molecular and clinical risk factors for venous (VTE) and arterial (ATE) thrombotic events as well as bleeding episodes.
Methods: Data from 246 consecutive MF patients were analyzed.
Acute myeloid leukemia (AML) with fusion is rare with largely unknown clinicopathological features and genomic characterization. We present one such case of AML transformed from V617F mutated primary myelofibrosis and review the literature on this topic. The immunophenotype and the landscape of cooperative gene alterations in AML with resemble those of AML with , including expression of CD19, cooperative gene alterations in signaling pathway (), epigenetic/chromatin and cell cycle regulation (, , and ), and additional chromosomal abnormalities (trisomies 8 and 15).
View Article and Find Full Text PDFJAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.
Blood Adv
December 2024
Cleveland Clinic, Cleveland, Ohio, United States.
The Janus kinase 2 (JAK2) V617F mutation activates the transcription pathway and has been well-characterized as a driver of myeloproliferative neoplasms (MPNs). Recently, there has been a heightened interest in understanding germline predisposition to hematological malignancies including MPN, including several reports of familial MPN. Here, we retrospectively analyzed medical records and data from genetic testing to describe twelve patients with germline variants at amino acid position 564 of JAK2.
View Article and Find Full Text PDFDonor selection for allogeneic hematopoietic cell transplant in a patient with JAK2 V617F primary myelofibrosis and SH2B3/LNK germline variant.
Ann Hematol
December 2024
Department of Biomedicine and Prevention, University of Rome Tor Vergata, Rome, Italy.
Article Synopsis
- * Understanding inherited traits is essential for making decisions regarding allogeneic hematopoietic cell transplants (allo-HCT) and choosing suitable donors.
- * The case of a 49-year-old woman with JAK2 V617F-positive primary myelofibrosis (PMF) illustrates the significance of genetic findings, including a variant in the SH2B3 gene, in clinical management and genetic counseling for transplant options.
Want 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!