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Polycythemia Vera
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Associated Genetic Biomarkers
Overview
NCI Definition: A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage. [1]
Polycythemia veras most frequently harbor alterations in JAK2, TET2, ASXL1, DNMT3A, and TP53 [2].
JAK2 Mutation, JAK2 V617F, JAK2 Exon 14 Mutation, TET2 Mutation, and TET2fs are the most common alterations in polycythemia vera [2].
Clinical Trials
Significant Genes in Polycythemia Vera
Disease Details
References
1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.