Essential thrombocythemia (ET) is comprised among chronic myeloproliferative neoplasms (MPN) and is caused by driver mutations in JAK2, CALR, and MPL, which lead to megakaryocyte proliferation and prominent thrombocytosis.
C. P. Marin Oyarzun +11 more
semanticscholar +1 more source
Mutant calreticulin knockin mice develop thrombocytosis and myelofibrosis without a stem cell self-renewal advantage. [PDF]
Somatic mutations in the endoplasmic reticulum chaperone calreticulin (CALR) are detected in approximately 40% of patients with essential thrombocythemia (ET) and primary myelofibrosis (PMF).
Aungier, Juliet +17 more
core +1 more source
Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management
Essential thrombocythemia is a Janus kinase 2 (JAK2) mutation‐prevalent myeloproliferative neoplasm characterized by clonal thrombocytosis; clinical course is often indolent but might be interrupted by thrombotic or hemorrhagic complications ...
A. Tefferi, A. Vannucchi, T. Barbui
semanticscholar +1 more source
Myeloproliferative neoplasms (MPNs) are characterized by deregulation of mature blood cell production and increased risk of myelofibrosis (MF) and leukemic transformation.
N. Øbro +17 more
semanticscholar +1 more source
Subclones homozygous for JAK2V617F are more common and larger in patients with polycythemia vera compared to essential thrombocythemia, but their role in determining phenotype remains unclear.
Anna L. Godfrey +5 more
doaj +1 more source
Severe Case of Peripheral Leukocytosis Initially Diagnosed as Myelodysplastic Syndrome/Myeloproliferative Neoplasm, Unclassifiable, but Possibly Prefibrotic Primary Myelofibrosis [PDF]
Leukocytosis is occasionally seen in patients with presumptive but undiagnosed myeloproliferative disorders (MPD). A 74-year-old woman was admitted to our hospital for tarry stools, anemia, and marked peripheral leukocytosis of 1.4×105/μL ...
Hiramatsu, Yasushi +8 more
core +1 more source
One thousand patients with essential thrombocythemia: the Florence-CRIMM experience
We describe 1000 patients with essential thrombocythemia seen at the Center Research and Innovation of Myeloproliferative Neoplasms (CRIMM), Florence, Italy, between 1980 and 2023: median age 59 years (18–95), females 65%, JAK2/CALR/MPL-mutated 66%/19%/4%
G. G. Loscocco +7 more
semanticscholar +1 more source
The Essential Thrombocythemia in 2020: What We Know and Where We Still Have to Dig Deep
The Essential Thrombocythemia is a Chronic Philadelphia-negative Myeloproliferative Neoplasm characterized by a survival curve that is only slightly worse than that of age- and sex-adjusted healthy population.
V. Accurso +9 more
semanticscholar +1 more source
Sabotaged Integral HSC Heterogeneity Underlies Essential Thrombocythemia Development
Single‐cell RNA sequencing (scRNA‐seq) maps how distinct driver mutations remodel hematopoietic stem cell (HSC) programs across essential thrombocythemia (ET). Comparative analysis uncovers both shared and subtype‐specific molecular signatures, identifies a triple‐negative (TN)‐associated HSC population enriched with malignant traits, and reveals the ...
Jingyuan Tong +21 more
wiley +1 more source
Ruxolitinib in the treatment of polycythemia vera: patient selection and special considerations. [PDF]
The discovery of JAK2 V617F mutation in the mid-2000s started to fill the gap between clinical presentation of polycythemia vera (PV), first described by Vaquez at the end of the 19th century, and spontaneous erythroid colony formation, reported by ...
Alberio, L., Blum, S., Martins, F.
core +2 more sources

