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In oncology, polycythemia vera (PV) is an uncommon myeloproliferative neoplasm in which the bone marrow makes too many red blood cells. [1] The majority of cases [2] are caused by mutations in the JAK2 gene, most commonly resulting in a single amino acid change in its protein product from valine to phenylalanine at position 617.
Polycythemia vera (PCV) (a.k.a. polycythemia rubra vera (PRV)) occurs when excess red blood cells are produced as a result of an abnormality of the bone marrow. [3] Often, excess white blood cells and platelets are also produced. A hallmark of polycythemia vera is an elevated hematocrit, with Hct > 55% seen in 83% of cases. [19]
Polycythemia vera (PV) is associated most often with the JAK2 V617F mutation greater than 95% of cases, whereas the remainder has a JAK2 exon 12 mutations. High hemoglobin or hematocrit counts are required, as is a bone marrow examination showing "prominent erythroid , granulocytic and megakaryocytic proliferation with pleomorphic, mature ...
[3] [6] Ropeginterferon alfa-2b is the first medication approved by the US Food and Drug Administration (FDA) to treat polycythemia vera that people can take regardless of their treatment history, and the first interferon therapy specifically approved for polycythemia vera. [3] The FDA considers it to be a first-in-class medication. [7]
Chronic myeloid leukemia, polycythemia vera, primary myelofibrosis, essential thrombocythemia, acute myeloid leukemia, allergic reactions or chronic inflammation related to infections, inflammatory bowel disease, and autoimmune disease. Diagnostic method: Complete blood count and blood smear.
A fourth trial begun in 2023 for the treatment of polycythemia vera is ongoing. [11] Several other investigator-initiated studies of bomedemstat either as monotherapy or in combination with other agents for hematologic malignancies or solid tumors are underway.
Eaves CJ & Eaves AC. Erythropoietin (EP) dose-response curves for three classes of erythroid progenitors in normal and in patients with polycythemia vera. Blood 52: 1196–1210, 1978. PMID 719172; Cashman JD, et al. Unregulated proliferation of primitive neoplastic progenitor cells in long-term polycythemia vera marrow cultures.
Myeloproliferative neoplasms including polycythemia vera and essential thrombocythemia [40] Nonsyndromic hearing loss and deafness , DFNB1 ( connexin 26) [ 41 ] Parkinson's disease ( G2019S / LRRK2 mutation; [ 42 ] The LRRK2 mutation on the main haplotype, shared by Ashkenazi Jews, North Africans, and Europeans, initially arose in the Near East ...
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