Polycythemia Vera, Myelofibrosis and Essential Thrombocythemia: Identification of PV, MF & ET Genes
Study Details
Study Description
Brief Summary
The purpose of this project is to find genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
Polycythemia Vera (PV), Essential Thrombocythemia (ET) and Primary Myelofibrosis (PMF), also known as the Philadelphia Chromosome negative myeloproliferative disorders (MPDs), are not congenital, but acquired. The purpose of this project is to find genes whose mutations cause these disorders, as well as improve diagnostic measures for these diseases. When this is accomplished new therapies to control and eventually cure the disease can be designed.
All subjects will be asked to donate 4-6 teaspoons of blood. On occasion, if the blood cells from a particular sample do not grow well and the DNA from that sample is used up or other tests are needed, we may ask to collect additional samples. In patients who have undergone a bone marrow biopsy as part of their clinical evaluation, we will test the reproducibility between pathologists for the revised 2008 WHO diagnostic criteria to diagnose myeloproliferative disorders (MPD).
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Affected Population Patients suspected to have one of the following blood disorders: polycythemia vera, myelofibrosis or essential thrombocythemia. |
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| Healthy Female Controls Healthy females who do not have the blood disorders; Polycythemia Vera, Essential Thrombocythemia and/or Myelofibrosis. |
Outcome Measures
Primary Outcome Measures
- Identify genes whose mutations cause Polycythemia Vera, Essential Thrombocythemia and Primary Myelofibrosis. [Weekly]
Secondary Outcome Measures
- To determine if there are proteins expressed by cells from patients that might be targets for the immune response. [Weekly]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Patients with an elevated hemoglobin concentration (>18 in males and >16 in females) and who are suspected to have congenital or acquired primary polycythemia
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Patients with a persistent thrombocytosis (>400,000) that does not have an obvious secondary cause
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Patients with a bone marrow biopsy that shows increased cellularity and fibrosis
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Patients where there is clinical concern for primary myelofibrosis, such as anemia in combination with leukocytosis, thrombocytosis, splenomegaly and/or a leukoerythroblastic blood smear
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Patients with thrombosis at unusual sites, such as Budd-Chiari syndrome, can have early PV before hemoglobin is elevated, these patients will also be included.
Exclusion Criteria:
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Subjects who have a known acquired cause of polycythemia (increased hemoglobin/hematocrit) such as people living in high altitudes (in excess of 14,000 feet), subjects with heart disease, left to right heart shunt, severe hypoxia or severe pulmonary disease will be excluded from this study.
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Subjects with a known acquired cause of thrombocytosis.
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Subjects will be excluded if they cannot demonstrate decision making capacity sufficient to agree or decline the blood drawing or use of their blood for the study.
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | University of Utah | Salt Lake City | Utah | United States | 84132 |
Sponsors and Collaborators
- University of Utah
- Myeloproliferative Disorders-Research Consortium
- National Cancer Institute (NCI)
Investigators
- Principal Investigator: Josef T Prchal, MD, University of Utah
Study Documents (Full-Text)
None provided.More Information
Publications
- Agarwal N, Mojica-Henshaw MP, Simmons ED, Hussey D, Ou CN, Prchal JT. Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. Int J Med Sci. 2007 Oct 4;4(4):232-6.
- Chen G, Prchal JT. Polycythemia vera and its molecular basis: an update. Best Pract Res Clin Haematol. 2006;19(3):387-97. Review.
- Chen GL, Liu E, Naidoo K, Popat U, Coetzer TL, Prchal JT. Idiopathic myelofibrosis without dacryocytes. Haematologica. 2006 Jun;91(6 Suppl):ECR29.
- Chen GL, Prchal JT. X-linked clonality testing: interpretation and limitations. Blood. 2007 Sep 1;110(5):1411-9. Epub 2007 Apr 13. Review.
- Finazzi G, Gregg XT, Barbui T, Prchal JT. Idiopathic erythrocytosis and other non-clonal polycythemias. Best Pract Res Clin Haematol. 2006;19(3):471-82. Review.
- Gaikwad A, Nussenzveig R, Liu E, Gottshalk S, Chang K, Prchal JT. In vitro expansion of erythroid progenitors from polycythemia vera patients leads to decrease in JAK2 V617F allele. Exp Hematol. 2007 Apr;35(4):587-95.
- Gaikwad A, Verstovsek S, Yoon D, Chang KT, Manshouri T, Nussenzveig R, Cortes J, Vainchenker W, Prchal JT. Imatinib effect on growth and signal transduction in polycythemia vera. Exp Hematol. 2007 Jun;35(6):931-8.
- Hoffman R, Prchal JT, Samuelson S, Ciurea SO, Rondelli D. Philadelphia chromosome-negative myeloproliferative disorders: biology and treatment. Biol Blood Marrow Transplant. 2007 Jan;13(1 Suppl 1):64-72. Review.
- Jelinek J, Li J, Mnjoyan Z, Issa JP, Prchal JT, Afshar-Kharghan V. Epigenetic control of PRV-1 expression on neutrophils. Exp Hematol. 2007 Nov;35(11):1677-83.
- Nussenzveig RH, Swierczek SI, Jelinek J, Gaikwad A, Liu E, Verstovsek S, Prchal JF, Prchal JT. Polycythemia vera is not initiated by JAK2V617F mutation. Exp Hematol. 2007 Jan;35(1):32-8.
- Popat U, Frost A, Liu E, Guan Y, Durette A, Reddy V, Prchal JT. High levels of circulating CD34 cells, dacrocytes, clonal hematopoiesis, and JAK2 mutation differentiate myelofibrosis with myeloid metaplasia from secondary myelofibrosis associated with pulmonary hypertension. Blood. 2006 May 1;107(9):3486-8. Epub 2006 Jan 17.
- Skoda R, Prchal JT. Chronic myeloproliferative disorders--introduction. Semin Hematol. 2005 Oct;42(4):181-3. Review.
- 17793
- 1P01CA10867101A2