Molecular Changes and Biomarkers in Chronic Myeloproliferative Disorders
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.
Observational
Time Perspective: Prospective
United States: Federal Government
070090
NCT00433862
February 2007
May 2010
Name | Location |
---|---|
National Institutes of Health Clinical Center, 9000 Rockville Pike | Bethesda, Maryland 20892 |
VA Medical Center, Washington D.C. | Washington, District of Columbia 20422 |