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BIOMARKER:

JAK3 mutation

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Other names: JAK3, Janus Kinase 3, Tyrosine-Protein Kinase JAK3, Leukocyte Janus Kinase, JAK-3, L-JAK, Janus Kinase 3 (A Protein Tyrosine Kinase Leukocyte), JAK3_HUMAN, JAKL, LJAK
Entrez ID:
Related biomarkers:
11ms
Retrospective analysis of clinical and molecular characteristics as prognostic factors in adult T-cell lymphoblastic lymphoma. (PubMed, Am J Cancer Res)
T-LBL is characterized by high-frequency gene mutations across multiple signaling pathways. Mediastinal invasion (70.80%) and extranodal involvement (39.33%) were prevalent in Chinese patients and were associated with poor prognosis. Combined assessment of clinical and molecular features allows for improved prognostic stratification and facilitates the development of targeted therapies for high-risk patients.
Retrospective data • Journal
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TP53 (Tumor protein P53) • NOTCH1 (Notch 1) • JAK1 (Janus Kinase 1) • JAK3 (Janus Kinase 3) • PHF6 (PHD Finger Protein 6)
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TP53 mutation • JAK3 mutation • PHF6 mutation
11ms
Diagnosis of primary meningeal natural killer/T‑cell lymphoma of the central nervous system using cerebrospinal fluid cytology: A case report. (PubMed, Oncol Lett)
Mutations of 14 genes were detected, including JAK3 mutations, upon screening of the CSF for blood system diseases using next-generation sequencing. Therefore, the present study demonstrated that a CSF cytological examination may be an important component of the diagnostic workup for patients suspected to have a primary meningeal CNS lymphoma.
Journal
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JAK3 (Janus Kinase 3)
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JAK3 mutation
1year
Pharmacological effects of koumine on acute lung injury in septic mice: From in vivo experiments and network pharmacology studies. (PubMed, Biochem Biophys Res Commun)
Network pharmacology analysis showed that 52 putative targets were relevant, and SLC6A4, HTR3A, JAK2 and JAK3 were the key targets. GO and KEGG pathway enrichment analysis showed that the related mechanisms involved neuroactive ligand-receptor interaction, calcium signaling pathway, serotonergic synapses, cholinergic synapses, etc. In summary, this study confirmed the potential therapeutic effect of koumine in sepsis induced ALI, suggesting its development prospect as a novel candidate drug for ALI, and providing data support.
Preclinical • Journal
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JAK2 (Janus kinase 2) • IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha) • JAK3 (Janus Kinase 3) • IL1B (Interleukin 1, beta) • MPO (Myeloperoxidase) • SLC6A4 (Solute Carrier Family 6 Member 4)
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JAK3 mutation
1year
The Innate Immune System Surveillance Biomarker p87 in African Americans and Caucasians with Small High-Grade Dysplastic Adenoma [SHiGDA] and Right-Sided JAK3 Colon Mutations May Explain the Presence of Multiple Cancers Revealing an Important Minority of Patients with JAK3 Mutations and Colorectal Neoplasia. (PubMed, Gastrointest Disord (Basel))
Thus, this pilot study suggests that the reduction in p87 in the right colon is possibly correlated with JAK3 mutations. If confirmed, JAK3 mutations, known to be associated with immune aberrations, may provide a mechanistic explanation for the lack of a p87 (protein 87 kilodaltons) field in some patients with HGD polyps who might benefit from possible intervention such as more intensive screening. Limited microbiome studies were also performed on two patients with familial cancer syndromes and these compared favorably with controls available from the literature.
Journal
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JAK3 (Janus Kinase 3)
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JAK3 mutation
1year
Landscape analysis of breast cancer ovarian metastases reveals biology and potential therapeutic targets (SABCS 2024)
Our study provides the largest comprehensive characterization of ovarian metastases in patients with breast cancer. It not only deepens our understanding of ILC ovarian metastasis but provides the foundation for future studies aimed at improved prevention and treatment of breast cancer metastasis to the ovary.
HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • MSI (Microsatellite instability) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • RUNX1 (RUNX Family Transcription Factor 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KMT2C (Lysine Methyltransferase 2C) • CDH1 (Cadherin 1) • JAK3 (Janus Kinase 3) • FOXA1 (Forkhead Box A1) • PI3K (Phosphoinositide 3-kinases)
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TP53 mutation • PIK3CA mutation • ERBB3 mutation • CDH1 mutation • JAK3 mutation
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FoundationOne® CDx
1year
Ruxolitinib combined with venetoclax and azacitidine in the treatment of refractory T-ALL patients with JAK1, JAK3, and STAT5B gene mutations: a case report and literature review (PubMed, Zhonghua Xue Ye Xue Za Zhi)
Notably, pleural effusion and mediastinal mass significantly improved the post-chest cavity infusion of dexamethasone combined with etoposide at the same stage. The patient also underwent allogeneic hematopoietic stem cell transplantation upon achieving bone marrow remission and was followed up until January 2024. Ruxolitinib combined with venetoclax and azacytidine has shown promising efficacy and safety in treating refractory T-ALL harboring the JAK1, JAK3, and STAT5B mutations, providing a novel therapeutic approach for such patients.
Review • Journal
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JAK1 (Janus Kinase 1) • JAK3 (Janus Kinase 3) • STAT5B (Signal Transducer And Activator Of Transcription 5B)
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JAK3 mutation
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Venclexta (venetoclax) • azacitidine • Jakafi (ruxolitinib) • etoposide IV
1year
Identification of mutations in canine oral mucosal melanomas by exome sequencing and comparison with human melanomas. (PubMed, Sci Rep)
These mutations were categorized based on the gene functions. The identification of these mutations provides critical insights that can pave the way for the development of novel therapeutic strategies for both canine and human OMM, offering hope for more effective treatments in the future.
Clinical • Journal
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NOTCH1 (Notch 1) • LRP1B (LDL Receptor Related Protein 1B) • EP300 (E1A binding protein p300) • JAK3 (Janus Kinase 3) • NCOR1 (Nuclear Receptor Corepressor 1) • FAT4 (FAT Atypical Cadherin 4)
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JAK3 mutation
1year
Design, preparation and biological evaluation of new Rociletinib-inspired analogs as irreversible EGFR inhibitors to treat non-small-cell-lung cancer. (PubMed, Bioorg Med Chem)
We have identified 20, 21 and 23 as potent mutant EGFR inhibitors (≤20 nM), with comparable or better selectivity over WT EGFR, and lower activity at JAK3, than Osimertinib or Rociletinib. Compounds 21 displayed the best combination of EGFR mutant activity, JAK3 selectivity, cellular activity and physicochemical properties. Finally, kinetic studies on 21 were performed, confirming a covalent mechanism of action at EGFR.
Journal
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JAK3 (Janus Kinase 3)
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EGFR mutation • EGFR L858R • EGFR T790M • EGFR wild-type • EGFR overexpression • JAK3 mutation
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Tagrisso (osimertinib) • Xegafri (rociletinib)
1year
Clinical and genetic profile of Chinese patients with indolent natural killer-cell lymphoproliferative disorder of the gastrointestinal tract. (PubMed, Neoplasia)
"Watch and wait" therapy was preferable to intense chemotherapy. Recurrent JAK3 mutation may be the underlying mechanism responsible for the neoplastic nature of the disease and may serve as a potential target for patients with severe symptoms.
Journal
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • JAK3 (Janus Kinase 3) • SH2B3 (SH2B Adaptor Protein 3)
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KRAS mutation • BRAF mutation • JAK3 mutation
over1year
Keratinocytes present Staphylococcus aureus enterotoxins and promote malignant and non-malignant T cell proliferation in cutaneous T cell lymphoma. (PubMed, J Invest Dermatol)
In conclusion, we show that, upon exposure to patient-derived S. aureus and SE, keratinocytes stimulate IL-2Rγ/JAK3-dependent proliferation of malignant and non-malignant T-cells in an environment with non-malignant T-cells. These findings suggest that keratinocytes in the TME play a key role in S. aureus mediated disease activity in CTCL.
Journal
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IFNG (Interferon, gamma) • IL2 (Interleukin 2) • JAK3 (Janus Kinase 3)
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IFNG expression • JAK3 mutation
over1year
Treatment patterns, clinical outcomes and gene mutation characteristics of hepatitis B virus-associated mantle cell lymphoma. (PubMed, Hematol Oncol)
The HD-AraC (high-dose cytarabine) regimen was the main first-line induction regimen for younger HBsAg+ patients, and cyclophosphamide, doxorubicin, vincristine and prednisone (CHOP) were used for elderly patients. HBsAg seropositivity was associated with a significantly shorter PFS than HBsAg seronegativity when patients were treated with rituximab or CHOP-based regimens...Among the 74 patients who underwent targeted deep sequencing (TDS), the nonsynonymous mutation load of HBsAg+ MCL patients was greater than that of HBsAg- MCL patients. HDAC1, TRAF5, FGFR4, SMAD2, JAK3, SMC1A, ZAP70, BLM, CDK12, PLCG2, SMO, TP63, NF1, PTPR, EPHA2, RPTOR and FIP1L1 were significantly enriched in HBsAg+ MCL patients.
Clinical data • Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • NF1 (Neurofibromin 1) • FGFR4 (Fibroblast growth factor receptor 4) • CDK12 (Cyclin dependent kinase 12) • PLCG2 (Phospholipase C Gamma 2) • FIP1L1 (Factor Interacting With PAPOLA And CPSF1) • JAK3 (Janus Kinase 3) • HDAC1 (Histone Deacetylase 1) • TP63 (Tumor protein 63) • SMAD2 (SMAD Family Member 2) • SMC1A (Structural Maintenance Of Chromosomes 1A)
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BLM mutation • JAK3 mutation
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Rituxan (rituximab) • cytarabine • doxorubicin hydrochloride • cyclophosphamide • vincristine
over1year
Analysis of mutation profiles in extranodal NK/T-cell lymphoma: clinical and prognostic correlations. (PubMed, Ann Hematol)
When correlations were analyzed by univariate followed by multivariate modelling, only copy number loss of LIFR gene and stage (III-IV) were independent prognostic factors of reduced OS. Our findings identified that novel loss of LIFR gene significantly correlated with the adverse clinical outcome of NKTCL patients and provided therapeutic opportunities for this disease through manipulating LIFR.
Journal
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MCL1 (Myeloid cell leukemia 1) • STAT3 (Signal Transducer And Activator Of Transcription 3) • JAK3 (Janus Kinase 3) • PIM1 (Pim-1 Proto-Oncogene) • LIFR (LIF Receptor Subunit Alpha)
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JAK3 mutation