News - JAK2 V617F - LARVOL VERI

Performance of Pillar oncoReveal Essential MPN Panel: Experiences of Two Clinical Diagnostic Laboratories (AMP 2024)

This intra-laboratory study demonstrates that the oncoReveal Essential MPN Panel performed very well against comparator methods. The performance characteristics, workflow benefits, and TAT saving are suitable for clinical testing of MPN patient population to allow accurate clinical assessment.

2 days ago

Clinical

JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F

ONCO/Reveal™ Essential MPN Panel

DNA and RNA NGS for Myeloid Neoplasms Using Oncomine Myeloid Assay GX v2 on GeneXus: An Assessment of Clinical Utility (AMP 2024)

This DNA- and RNA-based 80-gene panel has proven to be a powerful tool for genomic profiling of myeloid neoplasms. The results were provided to hematopathologists/oncologists in timely fashion with the critical information for diagnosis confirmation, and disease classification, as well as assessment of patient response to treatment.

2 days ago

Clinical • Next-generation sequencing

KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • DDX41 (DEAD-Box Helicase 41) • CALR (Calreticulin) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)

FLT3-ITD mutation • NPM1 mutation • U2AF1 mutation • CEBPA mutation • JAK2 V617F

Oncomine Myeloid Assay GX

Target-Capture Next-Generation Sequencing (NGS) for Use in Molecular-Based Research of Myeloid Measurable Residual Disease (MRD) (AMP 2024)

Target-capture NGS provides the opportunity to evaluate many genes in a single assay. Suitability for MRD requires highly uniform and sensitive target enrichment. Our study demonstrated reliable and accurate detection of variants down to 0.05% VAF, providing researchers with the capability to use capture-based NGS for myeloid MRD monitoring.

2 days ago

Next-generation sequencing

FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • JAK2 (Janus kinase 2)

FLT3-ITD mutation • NPM1 mutation • FLT3 D835Y • FLT3 D835 • IDH2 R172K • KIT D816V • IDH1 R132C • JAK2 V617F • IDH1 R132 • IDH2 R172

SureSeq™ Myeloid MRD Panel

16d

JAK 2-Positive Diseases and Spontaneous Coronary Artery Dissection: Case Series. (PubMed, Case Rep Oncol)

MPNs with JAK2 mutations are associated with SCAD in addition to usual atherosclerosis. This association needs further research.

16 days ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

18d

Features and allele frequency of JAK2 Exon 12-mutated polycythemia vera in comparison with JAK2V617F-mutated disease. (PubMed, Arch Med Res)

Taiwanese patients with PV showed differences in blood count, risk group, and bleeding events between exon 12 and JAK2V617F patients. Higher mutant allele burden had a negative impact on overall survival for both mutation types.

18 days ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

22d

New approaches to standard of care in early-phase myeloproliferative neoplasms: can interferon-α alter the natural history of the disease? (PubMed, Haematologica)

Finally, we present the interferon alpha (IFNα) therapy as a potential early disease-modifying drug after reporting its good hematological and molecular efficacies in ET, PV and early MF in clinical trials as well as its mechanism of action in pre-clinical studies. As a result, we may expect that, in the future, MPN patients will be diagnosed very early during the course of disease and that new selective therapies under development, such as IFNα, JAK2V617F inhibitors and CALRmut monoclonal antibodies, would be able to intercept the mutated clones.

22 days ago

Journal

CALR (Calreticulin) • IFNA1 (Interferon Alpha 1)

JAK2 V617F

24d

JAK2V617F-dependent down regulation of SHP-1 expression participates in the selection of myeloproliferative neoplasm cells in the presence of TGF-β. (PubMed, J Cell Mol Med)

In conclusion, we show a JAK2-dependent down regulation of SHP-1 in MPN patients' cells which is related to their resistance to the antiproliferative effect of TGF-β. This may participate in the clonal selection of cancer cells in MPNs.

24 days ago

Journal

JAK2 (Janus kinase 2) • CD34 (CD34 molecule) • TGFB1 (Transforming Growth Factor Beta 1)

JAK2 V617F • CD34 positive

25d

Essential Thrombocythemia Possible Cause of Ischemic Cerebrovascular Disease: A Case Report. (PubMed, Cureus)

Antiplatelet therapy was started with acetylsalicylic acid 100 mg and clopidogrel 75 mg once a day. With the recommendation of hematology, cytoreductive treatment, hydroxyurea 1000 mg twice a day, was started. The patient's complaints were resolved at the end of the second day, and the patient with minimal ataxia was discharged with recommendations. Patients with ET should be aware of ischemic cerebrovascular disease and consider antiplatelet and cytoreductive treatment options.

25 days ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

hydroxyurea

29d

Absence of canonical mutations in pediatric essential thrombocytosis: a case series. (PubMed, Blood Res)

No patient experienced hemorrhagic or thrombotic complications. Our case series emphasizes that the genetic features of pediatric ET may differ significantly from those of adult ET, and that treatment cessation is a possibility for some patients.

29 days ago

Journal

JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F

JAK Inhibitors for Myelofibrosis: Strengths and Limitations. (PubMed, Curr Hematol Malig Rep)

Recently, there has been increased efforts to optimize treatment with the development of highly selective JAK inhibitors, as well as use of combination agents to counter disease resistance through targeting aberrant signaling pathways. Treatment of MF patients with JAKi therapy can be challenging but the development of more potent and selective JAK inhibitors, as well as combination therapies, represent exciting treatment advances in this field.

1 month ago

Review • Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

Cerebral venous sinus thrombosis associated with JAK2 V617F mutation-related pre-primary myelofibrosis: a case report and literature review. (PubMed, BMC Neurol)

This case highlights the importance of recognizing dynamic changes in routine blood tests that may link CVST to underlying hematological disorders. The JAK2 mutation is not only associated with MPNs but also increases the risk of thrombosis, including CVST. Further investigation is warranted to better understand the mechanisms by which JAK2 mutations contribute to thrombosis and to explore the potential benefits of JAK2 inhibitors in reducing this risk.

1 month ago

Review • Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

aspirin

Effects of Ruxolitinib on Immune Checkpoint Molecule Expression in JAK2 V617F-Positive Cells. (PubMed, Clin Lab)

Ruxolitinib reduces the expression of p-JAK2, PD-1, and PD-L1 in JAK2 V617F-positive cells by specifically inhibiting the JAK2 signaling pathway, thereby suppressing the progression of MPNs.

1 month ago

Journal • PD(L)-1 Biomarker • IO biomarker

JAK2 (Janus kinase 2) • PD-1 (Programmed cell death 1)

PD-L1 expression • PD-1 expression • JAK2 V617F • JAK2 mutation

Jakafi (ruxolitinib)

Neutrophil/lymphocyte ratio identifies low-risk polycythaemia vera patients for early Ropeginterferon alfa-2b therapy. (PubMed, Br J Haematol)

Interestingly, the reduction in JAK2 VAF from baseline was linearly associated with the reduction in NLR. Patients who failed Phl-O at 12 months had characteristics that distinguished them from responders, including very high NLR and resistance to cross-over to 100 μg Ropeg every 2 weeks suggesting higher escalated doses of Ropeg. In conclusion, the study provides evidence that NLR can serve as a valuable biomarker to assess and guide treatment with Ropeg in the early stage of low-risk PV patients.

1 month ago

Journal

JAK2 (Janus kinase 2)

High NLR • JAK2 V617F

Besremi (ropeginterferon alfa-2b-njft)

Childhood and adolescent essential thrombocythemia and prefibrotic primary myelofibrosis: insights into diagnosis, outcomes, and treatment from a large Chinese cohort. (PubMed, Leukemia)

Compared to CAA-ET, CAA-preMF demonstrated poorer progression-free survival (P < 0.001) and faster disease progression (P = 0.019). This study provides a critical foundation for refining diagnostic, prognostic, and therapeutic approaches for CAA-ET and CAA-preMF.

1 month ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F

Variance quantitative trait loci reveal gene-gene interactions which alter blood traits. (PubMed, medRxiv)

This approach identified (1) a known interaction for hemoglobin between two pathogenic variants in HFE which cause hereditary hemochromatosis and alters risk of cirrhosis and (2) a novel interaction between the JAK2 46/1 haplotype and a variant on chromosome 14 which modifies platelet count, JAK2 V617F clonal hematopoiesis, and risk of polycythemia vera. This work identifies novel disease-relevant GxG interactions and demonstrates the utility of vQTL-based approaches in identifying GxG interactions relevant to human health at scale.

1 month ago

Journal

JAK2 (Janus kinase 2) • HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1) • HLA-DQA1 (Major Histocompatibility Complex, Class II, DQ Alpha 1)

JAK2 V617F

Synergistic effect of concurrent high molecular risk mutations and lower JAK2 mutant variant allele frequencies on prognosis in patients with myelofibrosis-insights from a multicenter study. (PubMed, Leukemia)

Importantly, the integration of HMR/JAK2V617F VAF (≤50%) status significantly enhanced existing prognostic models, as evidenced by higher c-indexes and time-dependent ROC analyses. Single-cell studies with sequential follow-ups are warranted to decipher the clonal evolution of MF and how it relates to JAK2V617F VAF dynamics.

1 month ago

Clinical • Journal

JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2)

EZH2 mutation • SRSF2 mutation • JAK2 V617F • JAK2 mutation

Relation of JAK2 V617F allele burden and coronary calcium score in patients with essential thrombocythemia. (PubMed, Radiol Oncol)

The average JAK2 allele burden decreased in our patients with high-risk ET during the four-year period. However, in the small subgroup whose JAK2 mutation burden increased the Agatston coronary calcium score increased as well. This finding, which should be interpreted with caution and validated in a larger group, is in line with emerging evidence that JAK2 mutation accelerates atherosclerosis and can be regarded as a non-classical risk factor for cardiovascular disease.

1 month ago

Journal • Tumor mutational burden

TMB (Tumor Mutational Burden) • JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

Long-term safety and efficacy of ropeginterferon alfa-2b in Japanese patients with polycythemia vera. (PubMed, Int J Hematol)

All patients experienced adverse events; 25/27 (92.6%) experienced adverse drug reactions (ADRs), but no serious ADRs or deaths occurred. This interim analysis demonstrated the safety and efficacy of ropegIFN over 36 months in Japanese patients with PV.

1 month ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F

Besremi (ropeginterferon alfa-2b-njft)

Differential modulation of mutant CALR and JAK2 V617F-driven oncogenesis by HLA genotype in myeloproliferative neoplasms. (PubMed, Front Immunol)

In conclusion, the HLA-I genotype differentially restricts JAK2 V617F and CALRmut-driven oncogenesis potentially explaining the mutual exclusivity of the two mutations and differences in their presentation latency. These findings have practical implications for the development of neoantigen-based vaccines in MPNs.

1 month ago

Journal

JAK2 (Janus kinase 2) • CALR (Calreticulin) • TAP1 (Transporter 1)

JAK2 V617F • CALR mutation • TAP1 expression

2ms

Janus kinase inhibitor monotherapy and combination therapies for myelofibrosis: what's the current standard of care? (PubMed, Expert Rev Hematol)

In order to potentially increase clinical benefit for patients with MF, several novel agents are being partnered with ruxolitinib (RUX) with the ongoing hypothesis to augment greater measures of MF disease modification. The novel agents are either 'added-on' to RUX or as a combo in JAKi naïve patients. Also, the mutant-targeting era of therapies is now beginning with novel CALR-mutated, novel JAK2 V617F mutation-specific and type II JAK2i in the initial stages of drug development, representing a new approach to treatment.

2 months ago

Review • Journal • Combination therapy

JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F • JAK2 mutation • CALR mutation

Jakafi (ruxolitinib)

2ms

Reduced platelet activation in triple-negative essential thrombocythemia compared with JAK2V617F-mutated essential thrombocythemia. (PubMed, Clin Cancer Res)

In comparison to JAK2V617F-mutated ET, TN-ET is associated with lower platelet ROS levels, which leads to reduced platelet activation and consequently a lower risk of thrombosis.

2 months ago

Clinical • Journal

SELP (Selectin P)

JAK2 V617F

2ms

Exogenous Janus Kinase 617 Codon Influences Small Noncoding RNAs and Gene Expression in Ba/F3 Cells. (PubMed, J Physiol Investig)

The induction route is functionally conserved, according to exogenously produced miRNA and gene expression. These results may clarify how the JAK2V617F induces transformation.

2 months ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F

2ms

Elotuzumab for the Treatment of JAK2-Mutated Myelofibrosis (clinicaltrials.gov)

P2, N=15, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025

2 months ago

Trial completion date • Trial primary completion date • IO biomarker

JAK2 (Janus kinase 2) • IL1R1 (Interleukin 1 receptor, type I) • SLAMF7 (SLAM Family Member 7)

JAK2 V617F

Empliciti (elotuzumab)

2ms

P1101 in Treating Patients with Myelofibrosis (clinicaltrials.gov)

P2, N=11, Completed, Mayo Clinic | Active, not recruiting --> Completed | Trial completion date: Aug 2024 --> Nov 2023 | Trial primary completion date: Aug 2024 --> Nov 2023

2 months ago

Trial completion • Trial completion date • Trial primary completion date

JAK2 V617F

Besremi (ropeginterferon alfa-2b-njft)

2ms

New advances in the role of JAK2 V617F mutation in myeloproliferative neoplasms. (PubMed, Cancer)

This requires an in-depth understanding of the mechanism of action of the JAK2 V617F mutation. In this review, the authors explored the role of the JAK2 V617F mutation in MPN from multiple aspects, including the mechanisms of non-JAK/STAT pathways, the regulation of cellular methylation, the induction of cellular DNA damage accumulation, and effects on the cardiovascular system, with the objective of providing valuable insights into multidrug combination therapy for MPN.

2 months ago

Review • Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

2ms

Challenges in Diagnosing Polycythemia Vera in Primary Care: A 55-Year-Old Malaysian Woman with Atypical Presentation. (PubMed, Am J Case Rep)

Treatment with phlebotomy, hydroxyurea, and aspirin resulted in significant improvements in ocular symptoms and hematological parameters within 60 days. CONCLUSIONS This case underscores the critical role of primary care in the early detection of polycythemia vera. Timely identification and appropriate referral from primary care settings are essential to avoid diagnostic delays and ensure effective management, improving patient outcomes and preventing complications.

2 months ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

hydroxyurea • aspirin

2ms

The survivin/XIAP suppressant YM155 impairs clonal growth and induces apoptosis in JAK2V617F cells. (PubMed, Hematol Transfus Cell Ther)

Protein expression analysis corroborates the observed cellular phenotype and exploratory gene expression findings. In summary, our results indicate that survivin/BIRC5 and XIAP are differently expressed in myeloproliferative neoplasms and YM155 has multiple antineoplastic effects on JAK2V617F cells suggesting that inhibitor of apoptosis proteins may be a target for pharmacological interventions in the treatment of these diseases.

2 months ago

Journal

XIAP (X-Linked Inhibitor Of Apoptosis)

JAK2 V617F • BIRC5 expression

sepantronium bromide (PC-002)

2ms

Impaired fibrinolysis in JAK2V617F-related myeloproliferative neoplasms. (PubMed, J Thromb Haemost)

Our results suggest that impaired tPA-mediated fibrinolysis represents an important pro-thrombotic mechanism in MPN patients that requires confirmation on larger studies.

2 months ago

Journal

CALR (Calreticulin)

JAK2 V617F • CALR mutation

2ms

Immune-dysregulation harnessing in myeloid neoplasms. (PubMed, Cancer Med)

In this review, we discuss the role of altered bone marrow microenvironments in the induction of immune dysregulations that accompany myeloid malignancies. We also consider both current and novel therapeutic strategies to restore normal immune system function in the context of myeloid malignancies.

2 months ago

Review • Journal

TNFA (Tumor Necrosis Factor-Alpha)

JAK2 V617F

2ms

Involvement of CREB3L1 in erythropoiesis induced by JAK2 exon 12 mutation. (PubMed, Exp Hematol)

shRNA knockdown of CREB3L1 expression in HSPCs blocked erythroblast formation in vitro. These results suggest that CREB3L1 is required for erythropoiesis in the presence of JAK2 exon 12 mutation or high level of EPO, possibly by antagonizing cellular stress.

2 months ago

Journal

JAK2 (Janus kinase 2) • CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1)

JAK2 V617F • JAK2 mutation • CREB3L1 expression

2ms

Programmed death-ligand 1 expression in patients with primary or secondary myelofibrosis. (PubMed, Cancer Rep (Hoboken))

These findings suggest that PMF patients with a JAK2 mutation have a higher PD-L1 expression in megakaryocytes compared with the control group. We postulate that the combination of checkpoint and JAK2 inhibitors may be an active treatment option in JAK2 mutated PMF given the higher PD-L1 expression.

2 months ago

Journal • PD(L)-1 Biomarker • IO biomarker

PD-L1 (Programmed death ligand 1)

PD-L1 expression • PD-L1 overexpression • JAK2 V617F • JAK2 mutation

2ms

Budd-Chiari syndrome and JAK2 gene mutation (PubMed, Rinsho Ketsueki)

A common treatment approach consists of anticoagulation for prevention and treatment of thrombosis, and cytoreductive therapy targeting MPN. However, as no definitive evidence exists for this approach, a bespoke therapeutic strategy tailored to individual patient profiles is required.

2 months ago

Journal

JAK2 (Janus kinase 2)

JAK2 V617F • JAK2 mutation

2ms

Case report: A case of effective treatment of primary myelofibrosis with nodular panniculitis using ruxolitinib combined with corticosteroids. (PubMed, Front Oncol)

A subsequent skin biopsy identified the condition as nodular panniculitis (NP), leading to a final diagnosis of primary myelofibrosis(PMF)with NP. The patient initially received treatment with oral ruxolitinib and prednisone acetate, resulting in normalization of body temperature, resolution of erythematous nodules, and normalization of blood parameters.

2 months ago

Journal

SRSF2 (Serine and arginine rich splicing factor 2)

SRSF2 mutation • JAK2 V617F

Jakafi (ruxolitinib) • prednisone

6ms

The clinical significance of TAT, PIC, TM, and t-PAIC in vascular events of BCR/ABL-negative myeloproliferative neoplasms. (PubMed, Clin Exp Med)

TAT, PIC, TM, and t-PAIC combined with ATIII and FDP have a certain value for predicting thrombosis in patients with BCR/ABL1-negative MPN. These 6 parameters are worth further exploration as predictive factors and prognostic markers for early thrombotic events.

6 months ago

Journal

ABL1 (ABL proto-oncogene 1)

JAK2 V617F

6ms

Immunophenotype of myeloid granulocytes in Chinese patients with BCR::ABL1-negative myeloproliferative neoplasms. (PubMed, Clin Exp Med)

MPN patients, especially those with PMF, have a significant granulocyte developmental overmaturation phenotype. CD10+ granulocytes may be involved in the prognosis of PMF patients.

6 months ago

Journal

ABL1 (ABL proto-oncogene 1) • ITGAM (Integrin, alpha M) • MME (Membrane Metalloendopeptidase) • CALR (Calreticulin) • ANPEP (Alanyl Aminopeptidase, Membrane)

JAK2 V617F • CALR mutation

6ms

Increased CXCL10 (IP-10) associates with advanced myeloproliferative neoplasms and its loss dampens erythrocytosis in mouse models. (PubMed, Exp Hematol)

To explore the broader effects of IP-10 loss, we crossed IP-10-/- mice into a series of MPN mouse models and show that its loss reduces the erythrocytosis observed in mice with the most severe phenotype. Together these data point to a potential role for blocking IP-10 activity in the management of MPNs.

6 months ago

Preclinical • Journal • Metastases

JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2) • TNFA (Tumor Necrosis Factor-Alpha) • CXCL8 (Chemokine (C-X-C motif) ligand 8) • CXCL10 (Chemokine (C-X-C motif) ligand 10) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)

TET2 mutation • JAK2 V617F

6ms

CLONAL EVOLUTION IN SECUNDARY ACUTE MYELOID LEUKEMIA ARISING FROM MYELOPROLIFERATIVE NEOPLASMS (EHA 2024)

Our data suggest that secondary AML arising from MPNs is a genetically distinct entity compared to de novoAML, with a higher incidence of mutations in high-risk genes such as TP53, a high rate of relapse/refractorinessand poor prognosis with current therapeutic strategies. NGS determination of somatic mutations could identifyhigh-risk-progression patients, and monitoring these mutations could be useful, along with other clinical data,to anticipate progression.

6 months ago

TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)

TP53 mutation • RUNX1 mutation • SRSF2 mutation • U2AF1 mutation • JAK2 V617F • CALR mutation

Oncomine Myeloid Research Assay

6ms

Mapping genotypes to chromatin accessibility profiles in single cells. (PubMed, Nature)

Collectively, we show that the JAK2V617F mutation leads to epigenetic rewiring in a cell-intrinsic and cell type-specific manner, influencing inflammation states and differentiation trajectories. We envision that GoT-ChA will empower broad future investigations of the critical link between somatic mutations and epigenetic alterations across clonal populations in malignant and non-malignant contexts.

6 months ago

Journal

CD34 (CD34 molecule)

JAK2 V617F

6ms

Prevalence and clinicopathological features of driver gene mutations profile in BCR: ABL1 negative classical myeloproliferative neoplasm-A single-center study from North India. (PubMed, Indian J Pathol Microbiol)

Our data on the driver gene mutational profile of BCR: ABL1 negative MPN is one of the largest patient cohorts. The prevalence and clinicopathological features corroborate with that of other Asian studies.

6 months ago

Journal

ABL1 (ABL proto-oncogene 1) • JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F • JAK2 mutation • CALR mutation

6ms

Determinants of mosaic chromosomal alteration fitness. (PubMed, Nat Commun)

Among individuals with JAK2 V617F clonal hematopoiesis of indeterminate potential or mCAs affecting the JAK2 gene on chromosome 9, PACER score was strongly correlated with erythrocyte count. In a cross-sectional analysis, genome-wide association study of estimates of mCA expansion rate identified a TCL1A locus variant associated with mCA clonal expansion rate, with suggestive variants in NRIP1 and TERT.

6 months ago

Journal

JAK2 (Janus kinase 2) • TCL1A (TCL1 Family AKT Coactivator A)

JAK2 V617F

7ms

Pegylated Interferon Alfa-2b Versus Interferon Alfa Therapy in Childhood and Adolescent Essential Thrombocythemia (clinicaltrials.gov)

P2, N=40, Recruiting, Institute of Hematology & Blood Diseases Hospital, China | Trial completion date: Feb 2024 --> Nov 2024 | Trial primary completion date: Feb 2024 --> Oct 2024

7 months ago

Trial completion date • Trial primary completion date

JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F

7ms

ADAMTS13, von Willebrand Factor, Platelet Microparticles, Factor VIII, and Impact of Somatic Mutations in the Pathogenesis of Splanchnic Vein Thrombosis Associated with BCR-ABL-Negative Myeloproliferative Neoplasms. (PubMed, Life (Basel))

The significant increase in circulating MV, VWF, and FVIII:C in the MPN patients and in the patients with thrombosis supports the role of endothelium damage in promoting thrombotic events. In particular, a significant increase in VWF and FVIII:C levels was found in the MPN patients with SVT.

7 months ago

Journal

ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • JAK2 (Janus kinase 2) • CALR (Calreticulin)

JAK2 V617F • JAK2 mutation