^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    ATRX mutation

    i
    Other names: ATRX, ATRX Chromatin Remodeler, Transcriptional Regulator ATRX, ATP-Dependent Helicase ATRX, X-Linked Nuclear Protein, X-Linked Helicase II, XH2, XNP, Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 (S. Cerevisiae) Homolog), Alpha Thalassemia/Mental Retardation Syndrome X-Linked (RAD54 Homolog S. Cerevisiae), Alpha Thalassemia/Mental Retardation Syndrome X-Linked, Mental Retardation X-Linked 52, RAD54 Homolog (S. Cerevisiae), Juberg-Marsidi Syndrome, ZNF-HX, Znf-HX, MRX52, JMS
    Entrez ID:
    546
    Related biomarkers:
    Mutation
    CNA
    Others
    11ms
    Cancer-associated DAXX mutations reveal a critical role for ATRX localization in ALT suppression. (PubMed, bioRxiv)
    Unexpectedly, we find that mutations in the DAXX histone binding domain lead to failure of ATRX localization. We conclude that a key function of DAXX in ALT suppression is the localization of ATRX to nuclear foci.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler) • DAXX (Death-domain associated protein)
    |
    ATRX mutation
    11ms
    High-risk neuroblastoma: ATRX and TERT as prognostic markers and therapeutic targets. Review and update on the topic. (PubMed, Rev Esp Patol)
    We highlight the promising results of the clinical trial involving the combination of adavosertib and irinotecan, which encourages further clinical trials with adavosertib targeting NB with ATRX mutations. Preclinical results with BET inhibitors (OTX015 and AZD5153) and with 6-thio-2'-deoxyguanosine, targeting NB with TERT mutations, are promising. Both represent future therapeutic targets, emphasizing the need to prioritize research using these models.
    Review • Journal
    |
    TERT (Telomerase Reverse Transcriptase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • ATRX (ATRX Chromatin Remodeler)
    |
    MYCN amplification • ATRX mutation • TERT mutation
    |
    adavosertib (AZD1775) • irinotecan • birabresib (OTX015) • SRA515
    11ms
    ATRX mutation modifies the DNA damage response in glioblastoma multiforme tumor cells and enhances patient prognosis. (PubMed, Medicine (Baltimore))
    Furthermore, additional protective factors such as younger age, female gender, combined IDH mutations, and TP53 mutations were identified. The results underscore the protective role and prognostic significance of ATRX mutations in GBM as a potential therapeutic target and biomarker for patient survival.
    Journal • Tumor mutational burden • IO biomarker
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • ATRX mutation
    12ms
    Oligoastrocytoma: The Vanishing Entity With True Dual Genotype, a Report, its Molecular Profiles and Review of Literature. (PubMed, Int J Surg Pathol)
    TERT mutation was present in the oligodendroglioma component, whereas it was absent in the astrocytoma component. Although rare, gliomas harboring both oligodendroglioma and astrocytoma components in a single tumor exist and show genetically distinct areas.
    Review • Journal
    |
    TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • ATRX mutation • TERT mutation • TP53 expression
    12ms
    Clinicopathological Parameters and Immunohistochemical Profiles in Correlation with MRI Characteristics in Glioblastomas. (PubMed, Int J Mol Sci)
    Additionally, ATRX mutations were frequently associated with a more pronounced deviation of the median structures. To statistically validate the associations between MRI and the histopathological features of glioblastomas, further studies with larger cohorts are required.
    Retrospective data • Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler) • CD34 (CD34 molecule) • MMP9 (Matrix metallopeptidase 9) • ENG (Endoglin)
    |
    TP53 mutation • ATRX mutation
    12ms
    ERBB2/ERBB3-mutated S100/SOX10-positive uterine sarcoma: something new. (PubMed, Virchows Arch)
    The authors review the sparse literature on molecular-genetic aberrations involving the epidermal growth factor receptor family of receptor tyrosine kinases (ERBB1/EGFR, ERBB2, ERBB3, and ERBB4) in uterine mesenchymal tumors, a review that suggests that such tumors may be pathologically heterogeneous. The potential clinical significance of demonstrating a targetable ERBB2/ERBB3 tyrosine kinase mutation or other EGFR family aberrations, as well as its distinctive pathologic profile, supports the segregation of the tumor reported herein as a distinct and emerging entity.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ALK (Anaplastic lymphoma kinase) • PGR (Progesterone receptor) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • NF1 (Neurofibromin 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • ATRX (ATRX Chromatin Remodeler) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • CD34 (CD34 molecule) • NCAM1 (Neural cell adhesion molecule 1) • SOX10 (SRY-Box 10) • CD68 (CD68 Molecule) • MME (Membrane Metalloendopeptidase) • PRAME (Preferentially Expressed Antigen In Melanoma) • MLANA (Melan-A) • NTRK (Neurotrophic receptor tyrosine kinase) • PDGFB (Platelet Derived Growth Factor Subunit B) • STAT6 (Signal transducer and activator of transcription 6) • MITF (Melanocyte Inducing Transcription Factor)
    |
    EGFR mutation • HER-2 mutation • CDKN2A deletion • ATRX mutation • ERBB3 mutation • NF1 deletion
    1year
    Predicting IDH and ATRX mutations in gliomas from radiomic features with machine learning: a systematic review and meta-analysis. (PubMed, Front Radiol)
    Future research should focus on integrating diverse data types, including advanced imaging, semantics and clinical data while also aiming to standardise the collection and integration of multimodal data. This approach will enhance clinical applicability and consistency.
    Retrospective data • Review • Journal • Machine learning
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    1year
    Study of Molecular Markers in Glioma and Their Association with Clinicopathological Features. (PubMed, Ann Afr Med)
    Molecular characterization of glioma is an important step in modern glioma diagnostics and immunohistochemistry can play an important role. IDH-1 mutation is commonly observed in adults, frontal lobe location, patients presenting with seizures, and WHO grade 2 tumors with the highest frequencies in oligodendrogliomas. ATRX and p53 can be used as surrogate markers for tumors of astrocytic lineage.
    Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • IDH1 mutation • ATRX mutation • TP53 overexpression
    1year
    PTEN pathogenic variants are associated with poor prognosis in patients with advanced soft tissue sarcoma. (PubMed, BJC Rep)
    MutPTEN vs wtPTEN was associated with worse OS in advanced STS. If confirmed, our findings could be helpful for prognostic stratification in clinical practice and for further understanding the molecular mechanisms of STS.
    Journal • Metastases
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • ATRX mutation
    1year
    Mutant ATRX: pathogenesis of ATRX syndrome and cancer. (PubMed, Front Mol Biosci)
    ATRX also functions as a transcriptional regulator involved in the pathogenesis of neuronal disorders and various diseases. In conclusion, ATRX is a central protein whose abnormalities lead to multiple diseases.
    Review • Journal
    |
    ATRX (ATRX Chromatin Remodeler) • DAXX (Death-domain associated protein)
    |
    ATRX mutation
    1year
    Dissecting the Molecular Profile of Glioblastoma: Exploring the Influence of Subventricular Zone Proximity. (PubMed, Turk Neurosurg)
    This study revealed a correlation between SVZ contact in GBM and specific molecular markers, specifically IDH1 mutation, ATRX loss, and tumor size. SVZ contact could serve as criterion for categorizing GBMs, thus contributing to an improved understanding of the disease and potential therapeutic interventions.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    IDH1 mutation • ATRX mutation
    1year
    A Translational Study of the ATR Inhibitor Berzosertib as Monotherapy in Four Molecularly Defined Cohorts of Advanced Solid Tumors. (PubMed, Clin Cancer Res)
    Across cohorts, only SDH-mutant GIST patients experienced prolonged disease control. Despite evidence of target engagement, patients enrolled to all other cohorts had short PFS, suggesting rapid adaptation to ATR inhibitor monotherapy. Among these patients, those with tumors expressing SLFN11 during berzosertib exposure derived the most clinical benefit.
    Journal • Metastases
    |
    ATM (ATM serine/threonine kinase) • SLFN11 (Schlafen Family Member 11) • ATRX (ATRX Chromatin Remodeler) • CHEK1 (Checkpoint kinase 1)
    |
    ATM mutation • ATRX mutation
    |
    berzosertib (M6620)