Essential thrombocythemia (ET) is a clonal myeloproliferative neoplasm. Croatian Cooperative Group for hematologic disorders, KROHEM proposes the diagnostic and treatment guidelines for ET. Diagnosis of ET is based on the criteria and classification of World Health Organization (WHO). The level of treatment recommendation is based on the UpToDate (web based medical community database) criteria. For ET diagnosis it is mandatory to show sustained increased number of platelets with typical histomorphological changes of megakaryopoiesis in bone marrow. Secondary thrombocytosis and other chronic myeloproliferative neoplasms have to be excluded. Therapy is based on risk factors for ET. The risk factors are number of platelets, patient's age, and the risk levels for thrombosis and bleeding. Patients with low risk (age < 60 years and platelets < 1000 x 10(9)/L) arw not candidates for therapy. In younger group of patients with platelets between 1000 and 1500 x 10(9)/L or more than 1500 x 10(9)/L treatment with anagrelide or hydroxyurea is recommended respectively. In high risk patients hydroxyurea is the first line treatment. Anagrelide is indicated in these patients in the absence of treatment response. Alpha-interferon is recommended for pregnant women with ET and high platelet counts.
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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 PDFLeukemia
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 PDFMedicine (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 PDFCancers (Basel)
December 2024
Independent Laboratory of Genetic Diagnostics, Medical University of Lublin, 20-093 Lublin, Poland.
Myeloproliferative neoplasms (MPNs) are clonal hematopoietic cancers characterized by hyperproliferation of the myeloid lineages. These clonal marrow disorders are extremely rare in pediatric patients. MPN is reported to occur 100 times more frequently in adults, and thus research is primarily focused on this patient group.
View Article and Find Full Text PDFBlood 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.
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