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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].

Most Commonly Altered Genes in Essential Thrombocythemia

JAK2 V617F, JAK2 Mutation, JAK2 Exon 14 Mutation, CALR Mutation, and CALR L367fs are the most common alterations in essential thrombocythemia [2].

Top Alterations in Essential Thrombocythemia

Clinical Trials

View Clinical Trials for Essential Thrombocythemia

Significant Genes in Essential Thrombocythemia

IDH1 +

IDH2 +

JAK2 +

Disease Details

Synonyms
ETC, ET, Essential Thrombocytosis, Idiopathic Thrombocythemia, Primary Thrombocytosis, Primary Thrombocythemia, Essential Thrombocytemia, Thrombocythemia
Parent(s)
Myeloproliferative Neoplasm
Children
Myelofibrosis Transformation in Essential Thrombocythemia
OncoTree Name
Essential Thrombocythemia
OncoTree Code
ET

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.