The Roles of Genetic and Epigenetic Abnormalities in Essential Thrombocythemia.

doi:10.3390/genes17090989

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Article

The Roles of Genetic and Epigenetic Abnormalities in Essential Thrombocythemia.

Genes - 24 Aug 2026

Strzała Dominika, Homenda Wojciech, Połom Aleksandra, Kellas Aleksandra, Bilska Sylwia, Paszek Sylwia, Potocka-Wojtowicz Natalia, Zawlik Izabela

Abstract excerpt

Essential thrombocythemia (ET) is a Ph(-) myeloproliferative neoplasm characterized by elevated platelet counts. Patients most often have one of the three following driver mutations: JAK2, MPL, or CALR. However, these mutations are not detected in approximately 10-15% of patients, who are thus referred to as "triple-negative" (TN). Background/Objectives: In recent years, there have been breakthroughs in the...

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Topics

Humans
Thrombocythemia, Essential
Epigenesis, Genetic
DNA Methylation
Janus Kinase 2
Mutation
Receptors, Thrombopoietin
Calreticulin

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Identifiers

PMID: 42792882
DOI: 10.3390/genes17090989
PMCID: PMC13606133

Genes

CALR
JAK2
MPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Oct 2026.