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BIOMARKER:

JAK2 mutation

i
Other names: JTK10, THCYT3, JAK2, Janus Kinase 2, Tyrosine-Protein Kinase JAK2, JAK-2
Entrez ID:
3d
leukocyte-associated immunoglobulin-like receptor 1 (LAIR-1) inhibits proliferation and promotes apoptosis of human HEL cells with JAK2 V617F mutation by blocking the JAK/STAT and PI3K/AKT signaling pathways (PubMed, Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi)
In addition, LAIR-1 exhibited a significantly inhibitory effect on cell proliferation and promoted apoptosis in HEL cells. Conclusion In HEL cells with JAK2 V617F mutation, LAIR-1 can inhibit the activation of JAK/STAT and PI3K/AKT/mTOR signaling pathways by recruiting SHP-2, thereby inhibiting the proliferation of HEL cells and promoting cell apoptosis.
Journal • IO biomarker
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JAK2 (Janus kinase 2) • CCND1 (Cyclin D1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • BAX (BCL2-associated X protein) • STAT1 (Signal Transducer And Activator Of Transcription 1) • ANXA5 (Annexin A5) • LAIR1 (Leukocyte Associated Immunoglobulin Like Receptor 1)
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BCL2 expression • CCND1 expression • JAK2 V617F • JAK2 mutation • BAX expression
3d
Activating mutations in JAK2 and CALR differentially affect intracellular calcium flux in store operated calcium entry. (PubMed, Cell Commun Signal)
This report highlights the impact of JAK2 and CALR mutations on Ca2+ flux (store depletion and SOCE) in response to stimulation with EPO and TPO. The study shows that the JAK2-V617F mutation strongly alters the regulatory mechanism of EpoR/JAK2-dependent intracellular calcium balance, affecting baseline calcium levels, EPO-induced calcium entry, and PLCγ-1 signaling pathways. Our results reveal an important role of calcium flux in the homeostasis of JAK2-V617F positive cells.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)
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JAK2 V617F • JAK2 mutation • CALR mutation
8d
A Study of LY2784544 in Participants With Myeloproliferative Neoplasms (clinicaltrials.gov)
P2, N=110, Active, not recruiting, Eli Lilly and Company | Trial completion date: Dec 2023 --> Dec 2024
Trial completion date
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
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gandotinib (LY 2784544)
11d
Loss of Dnmt3a increased self-renewal and resistance to pegIFNα in JAK2-V617F-positive myeloproliferative neoplasms. (PubMed, Blood)
PegIFNα combined with 5-azacytidine only partially overcame resistance in VF;DmΔ/Δ mice. However, this combination strongly decreased the JAK2-mutant allele burden in mice carrying VF mutation only, showing potential to inflict substantial damage preferentially to the JAK2-mutant clone.
Journal
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DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • IFNA1 (Interferon Alpha 1)
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DNMT3A mutation • JAK2 V617F • JAK2 mutation
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azacitidine
16d
Ruxolitinib in Thrombocythemia and Polycythemia Vera (clinicaltrials.gov)
P2, N=60, Recruiting, Massachusetts General Hospital | Trial completion date: Jul 2023 --> Dec 2024 | Trial primary completion date: Jul 2023 --> Dec 2024
Trial completion date • Trial primary completion date
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JAK2 (Janus kinase 2)
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JAK2 mutation
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Jakafi (ruxolitinib)
1m
Comparison of Clinical Characteristics of JAK2, CALR and Tri-Negative Driving Mutant Type in Patients with Essential Thrombocythemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
There are differences in blood cell count and coagulation status among ET patients with different driver gene mutations. Among ET patients, JAK2 mutation is most common. Compared with CALR group, the thrombotic rate, WBC and Fg significantly increase in JAK2 group, while PLT decrease. Compared with triple-negative group, the incidence of splenomegaly and HCT significantly increase. Compared with CALR group, Fg significantly increases but APTT decreases in triple-negative group.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
1m
Ischemic stroke as an initial performance of polycythemia vera in young adults: A case report and literature review. (PubMed, Medicine (Baltimore))
PV, a rare hematological disorder, can present with ischemic stroke as the initial performance, and the diagnosis mainly relies on routine blood tests, bone marrow biopsies, and genetic test. Therefore, clinicians should pay attention to PV, a low-prevalence disease, when encountering stroke in youth.
Review • Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
1m
How I manage polycythemia (PubMed, Rev Med Liege)
Management aims at reducing the hematocrit below 45 %, in order to limit, but not completely prevent, thrombo-embolic complications. This article elaborates on the clinical considerations around this biological anomaly, relevant complementary examinations, and briefly the therapeutic management.
Clinical guideline
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JAK2 (Janus kinase 2)
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JAK2 mutation
1m
UM171 Expanded Cord Blood In Patients With High-Risk Acute Leukemia/Myelodysplasia (clinicaltrials.gov)
P2, N=30, Active, not recruiting, Ciusss de L'Est de l'Île de Montréal | Recruiting --> Active, not recruiting | N=20 --> 30 | Trial completion date: Dec 2023 --> Oct 2027 | Trial primary completion date: Dec 2023 --> Oct 2024
Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • JAK2 (Janus kinase 2) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CD34 (CD34 molecule)
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TP53 mutation • FLT3 mutation • RAS mutation • JAK2 mutation
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cyclophosphamide • ECT-001-CB
2ms
Altered erythropoiesis via JAK2 and ASXL1 mutations in myeloproliferative neoplasms. (PubMed, Exp Hematol)
Lastly, treatment of CD34+ hematopoietic/stem progenitor cells with PRMT6 inhibitor, EPZ020411 induced expression of genes involved in heme metabolism, hemoglobin, and erythropoiesis. These findings highlight interactions between JAK2 and ASXL1 mutations and a unique erythroid regulatory network in the context of mutant ASXL1.
Journal
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JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • CD34 (CD34 molecule) • TFRC
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ASXL1 mutation • JAK2 mutation
2ms
Exploring the Molecular Aspects of Myeloproliferative Neoplasms Associated with Unusual Site Vein Thrombosis: Review of the Literature and Latest Insights. (PubMed, Int J Mol Sci)
A multidisciplinary strategy is vital to accurately determine the specific subtype of MPNs, recommend additional tests, and propose the most effective treatment plan. Establishing specialized care pathways for patients with splanchnic vein thrombosis and underlying MPNs is crucial to tailor management approaches that reduce the risk of hematological outcomes and hepatic complications.
Review • Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
2ms
Detecting Multiple Driver Mutations in a Patient with Essential Thrombocythemia. (PubMed, Am J Case Rep)
She was started on aspirin alone as she was less than 60 years old and had no history of thrombotic events...CONCLUSIONS We propose that in patients with a low JAK2 V617 allele variant, testing for other driver mutations should be performed. In our patient, JAK2 mutation could be clonal hematopoiesis of indeterminate potential; therefore, the dominant mutation (CALR) would determine the disease phenotype.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 V617F • JAK2 mutation • CALR mutation
2ms
Calreticulin and JAK2V617F driver mutations induce distinct mitotic defects in myeloproliferative neoplasms. (PubMed, Sci Rep)
Furthermore, the expression profile of mitotic regulators in CD34 + patient-derived cells allows to faithfully distinguish patients from healthy controls, as well as to differentiate primary and secondary myelofibrosis from essential thrombocythemia and polycythemia vera. Altogether, our data suggest alterations in mitotic regulation as a potential driver in the pathogenesis in MPN.
Journal
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JAK2 (Janus kinase 2) • CD34 (CD34 molecule) • PLK1 (Polo Like Kinase 1) • AURKB (Aurora Kinase B) • CALR (Calreticulin) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)
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JAK2 V617F • JAK2 mutation
2ms
The glutaminase inhibitor CB-839 targets metabolic dependencies of JAK2-mutant hematopoiesis in MPN. (PubMed, Blood Adv)
These effects were more pronounced when CB-839 was combined with the JAK1/2 inhibitor ruxolitinib or the glycolysis inhibitor 3PO, indicating possible synergies when co-targeting different metabolic and oncogenic pathways. In line with the effects shown in mice, proliferation of CD34+ hematopoietic stem and progenitor cells from PV patients was inhibited by CB-839 at nanomolar concentrations. These data suggest that inhibiting glutaminase alone or in combination with inhibitors of glycolysis or JAK2 inhibitors represents an attractive new therapeutic approach to MPN.
Journal
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JAK2 (Janus kinase 2) • CD34 (CD34 molecule)
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JAK2 V617F • JAK2 mutation
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Jakafi (ruxolitinib) • telaglenastat (CB-839)
2ms
Co-occurrence of JAK2-V617 F mutation and BCR::ABL1 translocation in chronic myeloproliferative neoplasms: a potentially confounding genetic combination. (PubMed, Front Oncol)
Starting from the presentation of two additional cases from our routine daily practice, we focus mainly on clinical, laboratory, and bone marrow histological findings, which may represent useful clues of BCR::ABL1 and JAK2 co-occurrence. The interaction between JAK2 and BCR::ABL1 clones during the disease course as well as therapy and outcome are presented.
Review • Journal
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ABL1 (ABL proto-oncogene 1) • JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
2ms
Proinflammatory phenotype of iPS cell-derived JAK2 V617F megakaryocytes induces fibrosis in 3D in vitro bone marrow niche. (PubMed, Stem Cell Reports)
In three-dimensional (3D) coculture, JAK2 V617F megakaryocytes induced a profibrotic phenotype through direct cell contact, which was reversed by the JAK2 inhibitor ruxolitinib. The 3D coculture system opens the perspective for further disease modeling and drug discovery.
Preclinical • Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
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Jakafi (ruxolitinib)
2ms
Abdominal venous thromboses: detection of the JAK2 p.V617F mutation by next-generation ultradeep sequencing-A prevalence study of patients in Mecklenburg-West Pomerania (2017-2021). (PubMed, Front Med (Lausanne))
By analyzing peripheral blood for the mutation JAK2 p.V617F, an important cause of these rare thrombotic events can be identified. The development of a diagnostic workup with next-generation ultradeep sequencing for the analysis of the JAK2 p.V617F mutation and further mutations has the potential to better understand the etiology of abdominal venous thromboses in individual patients in regional clinical care, as abdominal venous thromboses are diagnosed by various medical disciplines.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin) • MPL (MPL Proto-Oncogene, Thrombopoietin Receptor)
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JAK2 V617F • JAK2 mutation • CALR mutation
2ms
Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. (PubMed, Am J Hematol)
In this regard, once-daily low-dose aspirin is advised for all patients and twice daily for low-risk disease. First-line cytoreductive drugs of choice are hydroxyurea and pegylated interferon-α and second-line busulfan. The current review includes specific treatment strategies in the context of extreme thrombocytosis, pregnancy, splanchnic vein thrombosis, perioperative care, and post-essential thrombocythemia MF, as well as new investigational drugs.
Journal
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TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CALR (Calreticulin)
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TET2 mutation • JAK2 V617F • JAK2 mutation
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hydroxyurea • busulfan
2ms
Idiopathic erythrocytosis: a germline disease? (PubMed, Clin Exp Med)
We identified recurrent germline variants in 42 (75%) patients occurring mainly in JAK/STAT, Hypoxia and Iron metabolism pathways, among them: JAK3-V722I and HIF1A-P582S; a high fraction of patients (48.2%) resulted also mutated in homeostatic iron regulatory gene HFE-H63D or C282Y. By generating cellular models, we showed that JAK3-V722I causes activation of the JAK-STAT5 axis and upregulation of EPAS1/HIF2A, while HIF1A-P582S causes suppression of hepcidin mRNA synthesis, suggesting a major role for these variants in the onset of IE.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • HIF1A (Hypoxia inducible factor 1, alpha subunit) • WT1 (WT1 Transcription Factor) • EPAS1 (Endothelial PAS domain protein 1) • JAK3 (Janus Kinase 3)
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TMB-H • DNMT3A mutation • TMB-L • JAK2 V617F • JAK2 mutation • JAK3 mutation • HIF1A P582S
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OncoPanel™ Assay
2ms
Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology. (PubMed, Ann Hematol)
In conclusion, clinical and molecular characteristics are different in PV/ET patients with SVT, depending on whether it occurs at diagnosis or at follow-up. Molecular characterization by NGS is useful for assessing the risk of thrombosis and disease progression in young patients with PV/ET.
Journal
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DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • ASXL1 mutation • TET2 mutation • JAK2 mutation
2ms
One thousand patients with essential thrombocythemia: the Mayo Clinic experience. (PubMed, Blood Cancer J)
Aspirin therapy appeared to mitigate both arterial (HR 0.4) and venous (HR 0.4) thrombosis risk. HR-based risk models delineated patients with median survivals ranging from 10 years to not reached and 20-year leukemia/myelofibrosis incidences from 3%/21% to 12.8%/49%. The current study provides both novel and confirmatory observations of essential thrombocythemia.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
2ms
One thousand patients with essential thrombocythemia: the Florence-CRIMM experience. (PubMed, Blood Cancer J)
Cytoreductive therapy appeared to mitigate both venous (HR 0.3; p = 0.01) and arterial thrombosis (HR 4; p = 0.04); there was a trend for aspirin in preventing arterial thrombosis recurrence. The current study provides real-world observations in essential thrombocythemia, representing a valid source document for interpreting current literature and planning future studies.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
2ms
Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
2ms
Driver mutation zygosity is a critical factor in predicting clonal hematopoiesis transformation risk. (PubMed, Blood Cancer J)
Currently, the 'zygosity' of the CHIP mutation is not routinely reported in clinical assays or considered in prognosticating CHIP transformation risk. Based on these observations, we propose that clinical reports should include 'zygosity' status of CHIP mutations and that future prognostication systems should take mutation 'zygosity' into account.
Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
2ms
A germline JAK2 exon12 mutation and a late somatic CALR mutation in a patient with essential thrombocythemia. (PubMed, Front Oncol)
We further demonstrated that JAK2N533S, as a noncanonical JAK2 exon12 mutation, is a germline mutation that may not exert an effect on cell proliferation and protein function. These results and the present body of available data imply that certain noncanonical JAK2 mutations are not gain-of-function mutations leading to the development of myeloproliferative neoplasms.
Journal
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JAK2 (Janus kinase 2) • STAT3 (Signal Transducer And Activator Of Transcription 3) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
3ms
IL-1β promotes MPN disease initiation by favoring early clonal expansion of JAK2-mutant hematopoietic stem cells. (PubMed, Blood Adv)
Anti-IL-1β antibody preserved high frequencies of MSCs in VF;GFP recipients and reduced the rate of engraftment and the conversion to MPN. Our results identify IL-1β as a potential therapeutic target for preventing the transition from JAK2-V617F CHIP to MPN.
Journal
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JAK2 (Janus kinase 2) • IL1B (Interleukin 1, beta) • IL1R1 (Interleukin 1 receptor, type I)
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JAK2 V617F • JAK2 mutation
3ms
Identification and validation of the association of Janus kinase 2 mutations with the response to immune checkpoint inhibitor therapy. (PubMed, Inflamm Res)
Our study demonstrates that JAK2 mutation is a novel marker that can be used to effectively predict prognosis and response to ICI therapy.
Journal • Checkpoint inhibition • IO biomarker
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TMB (Tumor Mutational Burden) • JAK2 (Janus kinase 2)
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TMB-H • JAK2 mutation
3ms
Insights into the role of JAK2-I724T variant in myeloproliferative neoplasms from a unique cohort of New Zealand patients. (PubMed, Hematology)
Several non-canonical JAK2 variants with high REVEL scores have been reported in MPN, highlighting the need to further understand their relationship with disease. The JAK2-I724T variant does not drive MPN, but additional investigations are required to exclude any potential modulatory effect on the MPN phenotype.
Journal
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation
3ms
In-Hospital and readmission outcomes of patients with myeloproliferative neoplasms and heart failure: Insights from the National Readmissions Database. (PubMed, Int J Cardiol Heart Vasc)
Among patients hospitalized for HF, MPN was associated with increased risk of in-hospital death, and 90-day CV-related readmissions (driven primarily by thrombotic readmissions). Further investigation is needed in order to improve outcomes in patients with MPN and HF.
Journal
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JAK2 (Janus kinase 2)
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JAK2 mutation
3ms
Distinct clinico-molecular arterial and venous thrombosis scores for myeloproliferative neoplasms risk stratification. (PubMed, Leukemia)
Our study pinpoints arterial and venous thrombosis clinico-molecular differences and proposes an arterial risk score for more accurate patients' stratification. Further improvement of venous risk scores, accounting for additional factors and considering venous thrombosis as a heterogeneous entity is warranted.
Journal
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DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • TET2 mutation • JAK2 mutation
3ms
A comparison between erythrocytapheresis and venesection for the treatment of JAK2-mutated polycythaemia. (PubMed, Intern Med J)
Erythrocytapheresis is more efficacious than venesection for the treatment of PV and is accompanied by rapid reductions in haematocrit and reduced thrombotic complications.
Journal
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JAK2 (Janus kinase 2)
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JAK2 mutation
4ms
JAK2 R683S Mutation Resulting in Dual Diagnoses of Chronic Eosinophilic Leukemia and Myelodysplastic/Myeloproliferative Overlap Syndrome. (PubMed, J Natl Compr Canc Netw)
Although the patient's blood counts initially responded to ruxolitinib and hydroxyurea, the response was not durable. Early referral for allogenic bone marrow transplant appears necessary to prevent long-term complications and disease progression in myeloid neoplasms with clonal hypereosinophilia driven by noncanonical JAK2 mutations.
Journal
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JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1)
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SF3B1 mutation • JAK2 mutation
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Jakafi (ruxolitinib) • hydroxyurea
4ms
A Case of Porto-Sinusoidal Vascular Disease. (PubMed, Eur J Case Rep Intern Med)
The suspicion of PSVD should be raised when signs of portal hypertension are present with normal or mildly elevated liver enzymes and normal liver stiffness measurement. A liver biopsy should be performed in this situation.Although the pathogenesis of PSVD is not clearly understood, it is based on the development of vascular changes within the liver and there might be several predisposing conditions such as coagulation disorders.
Journal
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JAK2 (Janus kinase 2)
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JAK2 mutation
4ms
Correlation between IPSET-t risk at diagnosis and subsequent hemorrhage in patients with essential thrombocythemia; a single institution experience. (PubMed, Ann Hematol)
We found no correlation between hemorrhagic risk and gender or mutational status. Results of our study highlight the validity of IPSET-t score in predicting individual hemorrhagic risk among ET patients, suggesting a possible role of IPSET-t scoring system as a global evaluator for vascular events in ET patients.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
4ms
Possible Risk Factors for Bone Marrow Fibroplasia in Patients with Polycythemia Vera (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
Increased proportion of peripheral blood eosinophils and decreased low density lipoprotein are risk factors for bone marrow fibrous tissue hyperplasia in PV patients.
Journal
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JAK2 (Janus kinase 2)
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JAK2 mutation
4ms
Allogeneic hematopoietic cell transplantation in patients with CALR-mutated myelofibrosis: a study of the Chronic Malignancies Working Party of EBMT. (PubMed, Bone Marrow Transplant)
Patients receiving busulfan-containing regimens achieved a 5-year OS rate of 71%...Comparative analysis between CALR- and JAK2-mutated MF patients adjusting for confounding factors revealed better OS, lower NRM, lower relapse, and improved graft-versus-host disease-free and relapse-free survival (GRFS) in CALR-mutated patients. These findings confirm the improved prognosis associated with CALR mutation in allo-HCT and support molecular profiling in prognostic scoring systems to predict OS after transplantation in MF.
Journal
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JAK2 (Janus kinase 2) • CALR (Calreticulin)
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JAK2 mutation • CALR mutation
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busulfan
4ms
Single-center study on features of immune mediated diseases in JAK2 (V617F)-positive myeloproliferative neoplasms and the potential therapeutic role of JAK inhibitors. (PubMed, Eur J Intern Med)
A high prevalence of rheumatic IMIDs is observed in patients with MPNs and JAK2 (V617F) mutation. JAK inhibitors might be a targeted therapy option in these patients.
Journal
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JAK2 (Janus kinase 2) • WDR1 (WD Repeat Domain 1)
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JAK2 V617F • JAK2 mutation
4ms
Analysis of risk factors for thromboembolism in patients with JAK2 gene mutation positive myeloproliferative neoplasms (PubMed, Zhonghua Yi Xue Za Zhi)
In addition to age, history of thrombosis and positive ASXL1 mutation, elevated TNF-β is also an influencing factor of thrombosis in JAK2 positive MPN patients. Intervention of inflammation may have a certain effect on the prevention and treatment of thrombosis.
Journal
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JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TNFA (Tumor Necrosis Factor-Alpha) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • IL1B (Interleukin 1, beta) • BCORL1 (BCL6 Corepressor Like 1) • CRP (C-reactive protein)
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ASXL1 mutation • JAK2 mutation
4ms
Expression level of Wilms' tumor 1 gene and its correlation with clinical features in patients with myeloproliferative neoplasms (PubMed, Zhonghua Yi Xue Za Zhi)
It can be utilized as an auxiliary diagnostic indicator for classical MPN staging but is not correlated with the incidence of thrombotic events. Male and positive JAK2 gene mutation are risk factors for thrombotic events in ET patients.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • JAK2 (Janus kinase 2) • WT1 (WT1 Transcription Factor) • CALR (Calreticulin)
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JAK2 mutation • WT1 expression • WT1 positive
4ms
Clonal hematopoiesis and its evolution of myeloproliferative neoplasms (PubMed, Zhonghua Yi Xue Za Zhi)
Although great progress has been made in the understanding of MPN clonal hematopoiesis and its evolution with the development of next-generation sequencing, there are still many limitations. In this study, we mainly discuss gene mutations of MPN and their influences on the thrombosis, leukemia and fibrosis transformation, and the influencing factors of clonal evolution, aiming to summarize the influence of clonal hematopoiesis and its evolution on the complications, prognosis and survival of MPN.
Journal
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TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CALR (Calreticulin)
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TP53 mutation • DNMT3A mutation • ASXL1 mutation • SF3B1 mutation • SRSF2 mutation • JAK2 mutation • CALR mutation
4ms
Preclinical Evaluation of JAK2 Specific Investigational Oligonucleotide for the Treatment of MPNs (ASH 2023)
Around 50-60% of primary MF patients harbor the JAK2V617F gain-of-function mutation. ASOs offer the capability to directly target JAK2-driven neoplasms with highest precision and effectively reduce JAK2 protein production, without off-target effects linked with small molecules targeting various kinase families. The ability to reduce JAK2 protein may alleviate the disease burden that patients with hematologic malignancies face, resulting in a higher quality of life through prevention and treatment.
Preclinical
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JAK2 (Janus kinase 2)
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JAK2 V617F • JAK2 mutation