Myeloproliferative Neoplasms
Myeloproliferative neoplasms (MPNs) are related by overlapping symptoms and the common cause of a mutation in a blood stem cell. While this group of conditions was renamed MPN in 2008, the prior name chronic myeloproliferative disorders (CMPDs) is still frequently used.
The most common MPNs and their main method of causing disease are:
- Chronic myeloid (or myelogenous) leukemia (CML) – excess and defective production of white cells
Polycythemia vera (PV) – overproduction of red bloods cells
- Essential (or primary) thrombocytopenia (ET) – overproduction of platelets
- Primary (or idiopathic) myelofibrosis (PMF) - replacement of healthy marrow by fibrous, scar-like growth
- Treatments may include phlebotomy (in PV) or plasmapheresis (in ET) to remove extra cells from the circulation. General treatments are drug therapy, chemotherapy, and sometimes radiation and/or stem cell transplant.
Role of our Laboratory Tests
- Morphology studies are performed by a pathologist who examines cells under the microscope. Colored stains help identify cell types and distinguish normal from abnormal maturation.
- Cytogenetics is analysis of chromosomes in individual marrow or blood cells. Certain combinations of changes are associated with milder disease, and some correlate with a more serious prognosis. The photographed, ordered spread of analyzed chromosomes is called a karyotype.
- FISH, or fluorescence in situ hybridization, uses fluorescent DNA probes and microscopy to scan the chromosomes of a large number of cells for changes that may be too infrequent or too subtle to detect by cytogenetics. FISH analyzes only chromosome regions the laboratory targets, while cytogenetics provides an overview of all chromosomes at the same time.
- Flow cytometry is a high-capacity, automated method of examining the inner contents and outer surface of cells in a patient’s sample. Fluorescent dyes stain the DNA to measure growth rate and stage. Fluorescently-labeled antibodies can attach to surface targets on the patient’s cell. The labeled cells are passed though a laser and a set of sensors that capture and process the fluorescence information into a pattern that reveals clusters of different cells within the original patient sample.
- Molecular genetics is a sensitive method for detecting genetic changes at the level of the DNA sequence, far beyond the level of resolution of cytogenetics or FISH. Our MPN Panel is a three-step testing pathway that detects mutations in JAK2 and MPL genes associated with PV, ET, and myelofibrosis.
Recent Research Highlights
Support and Information Resources
- MPN Research Foundation
The MPN Research Foundation funds innovative, accountable research that produces results for patients with polycythemia vera, essential thrombocythemia and myelofibrosis. Founded by patients, for patients, they have strong relationships with top researchers, clinicians and biopharmaceutical companies to ensure progress is being made to get closer to a cure.
- Leukemia & Lymphoma Society
The mission of the Leukemia & Lymphoma Society is to cure leukemia, lymphoma, Hodgkin's disease and myeloma, and improve the quality of life of patients and their families. Support is provided for additional conditions.
Clinical trials
|
