Diseases /
Essential Thrombocythemia
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Associated Genetic Biomarkers
Overview
NCI Definition: A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008) [1]
Essential thrombocythemias most frequently harbor alterations in JAK2, CALR, ASXL1, DNMT3A, and TET2 [2].
JAK2 V617F, JAK2 Mutation, JAK2 Exon 14 Mutation, CALR Mutation, and CALR L367fs are the most common alterations in essential thrombocythemia [2].
Clinical Trials
Significant Genes in Essential Thrombocythemia
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.