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Molecular Changes and Biomarkers in Chronic Myeloproliferative Disorders

2014-08-27 03:40:12 | BioPortfolio

Summary

The three main chronic myeloproliferative disorders are polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). These are clonal neoplastic diseases characterized by proliferation of one or more hematopoietic lineages. Recently a mutation of the Janus Kinase 2 (JAK2) gene that leads to the substitution of phenylalanine for valine at position 617 of the JAK2 protein, JAK2 V617F, has been found in 76% to 97% of patients with PV, 29% to 57% of patients with ET and 50% of patients with IMF. This mutation confers constitutive activity on to the JAK2 protein and appears to play an important role in the pathobiology of these conditions. However, not all patients with myeloproliferative disorders have this mutation and it may not be the primary cause of these diseases. The primary goal of this prospective natural history study is to investigate the molecular basis of these diseases in groups of patients who have JAK2 V617F and in those who do not. A second goal is to identify biomarkers for PV and the other myeloproliferative disorders that are easier to measure than JAK2 V617F. Approximately, 150 patients with myeloproliferative disorders will be studied over 3 years. The studies will involve the collection of 40 mL to 50 mL of peripheral blood from each subject. The blood will be used to assess neutrophil gene and protein expression, gene polymorphisms, and plasma protein levels.

Description

The three main chronic myeloproliferative disorders are polycythemia vera (PV), essential thrombocythemia (ET) and idiopathic myelofibrosis (IMF). These are clonal neoplastic diseases characterized by proliferation of one or more hematopoietic lineages. Recently a mutation of the Janus Kinase 2 (JAK2) gene that leads to the substitution of phenylalanine for valine at position 617 of the JAK2 protein, JAK2 V617F, has been found in 76% to 97% of patients with PV, 29% to 57% of patients with ET and 50% of patients with IMF. This mutation confers constitutive activity on to the JAK2 protein and appears to play an important role in the pathobiology of these conditions. However, not all patients with myeloproliferative disorders have this mutation and it may not be the primary cause of these diseases. The primary goal of this prospective natural history study is to investigate the molecular basis of these diseases in groups of patients who have JAK2 V617F and in those who do not. A second goal is to identify biomarkers for PV and the other myeloproliferative disorders that are easier to measure than JAK2 V617F. Approximately, 150 patients with myeloproliferative disorders will be studied over 3 years. The studies will involve the collection of 40 mL to 50 mL of peripheral blood from each subject. The blood will be used to assess neutrophil gene and protein expression, gene polymorphisms, and plasma protein levels.

Study Design

Time Perspective: Prospective

Conditions

Polycythemia Vera

Location

VA Medical Center, Washington D.C.
Washington
District of Columbia
United States
20422

Status

Completed

Source

National Institutes of Health Clinical Center (CC)

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:40:12-0400

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The purpose of this research study is to evaluate the safety and effectiveness of patients with Polycythemia Vera treated with Gleevec.

A Phase 1 Study of XL019 in Adults With Polycythemia Vera

The purpose of this study is to evaluate the safety and tolerability of the JAK2 inhibitor XL019 administered orally in adults with Polycythemia Vera.

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The purpose of this study is to determine the activity of Glivec 400 mg po daily, as single agent, in inducing a haematological response in Polycythemia Vera. The patients will be asked t...

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The primary objective of this study is to determine the overall response rate to erlotinib in patients with polycythemia vera (PV). Response rate will be assessed by improvement in the com...

Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes

The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.

PubMed Articles [55 Associated PubMed Articles listed on BioPortfolio]

Acute myocardial infarction due to polycythemia vera.

We report the clinical case of a patient presenting with an acute myocardial infarction with ST- segment elevation. The patient is affected by polycythemia vera for many years and doesn't have any oth...

Polycythemia vera and essential thrombocythemia: 2019 update on diagnosis, risk-stratification and management.

Polycythemia Vera (PV) and essential thrombocythemia (ET) are myeloproliferative neoplasms (MPN) respectively characterized by erythrocytosis and thrombocytosis; other disease features include leukocy...

The real-world outcomes of treating Polycythemia Vera: Physician adherence to treatment guidelines.

Therapy in Polycythemia Vera (PV), a myeloproliferative neoplasm, focuses on reducing cardiovascular (CV) risk without increasing bleeding or hematological progression. However, the real-world practic...

Refining the management of polycythemia vera.

Prognostic factors for thrombosis-free survival and overall survival in polycythemia vera: A retrospective analysis of 623 PTS With long follow-up.

Medical and Biotech [MESH] Definitions

The techniques used to draw blood from a vein for diagnostic purposes or for treatment of certain blood disorders such as erythrocytosis, hemochromatosis, polycythemia vera, and porphyria cutanea tarda.

A myeloproliferative disorder of unknown etiology, characterized by abnormal proliferation of all hematopoietic bone marrow elements and an absolute increase in red cell mass and total blood volume, associated frequently with splenomegaly, leukocytosis, and thrombocythemia. Hematopoiesis is also reactive in extramedullary sites (liver and spleen). In time myelofibrosis occurs.

An increase in the total red cell mass of the blood. (Dorland, 27th ed)

Member of the genus Trichechus inhabiting the coast and coastal rivers of the southeastern United States as well as the West Indies and the adjacent mainland from Vera Cruz, Mexico to northern South America. (From Scott, Concise Encyclopedia Biology, 1996)

Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)

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