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    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
    4d
    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
    6d
    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
    11d
    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
    1m
    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
    1m
    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
    1m
    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
    2ms
    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
    2ms
    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
    2ms
    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)
    3ms
    Glucagon-Producing Pancreatic Neuroendocrine Tumors (Glucagonomas) are Enriched in Aggressive Neoplasms with ARX and PDX1 Co-expression, DAXX/ATRX Mutations, and ALT (Alternative Lengthening of Telomeres). (PubMed, Endocr Pathol)
    During follow-up, one patient died of the disease, and four patients developed distant metastasis. Pancreatic glucagonomas are distinct PanNETs with specific clinicopathological and molecular features, including histological aspects of biological aggressiveness, co-occurring alpha- and beta-cell differentiation, MEN1 and DAXX/ATRX mutations enrichment, and the possible presence of high-TMB as an actionable marker.
    Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • ATRX (ATRX Chromatin Remodeler) • MUTYH (MutY homolog) • DAXX (Death-domain associated protein) • PDX1 (Pancreatic And Duodenal Homeobox 1) • SYP (Synaptophysin)
    |
    TMB-H • ATRX mutation
    3ms
    BRACeD: Carboplatin or Olaparib for BRcA Deficient Prostate Cancer (clinicaltrials.gov)
    P2, N=100, Recruiting, VA Office of Research and Development | Trial primary completion date: Aug 2024 --> Aug 2025
    Trial primary completion date
    |
    RAD51B (RAD51 Paralog B) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • RAD54L (DNA Repair And Recombination Protein RAD54)
    |
    ATRX mutation • RAD54L mutation • RAD51 mutation
    |
    Lynparza (olaparib) • carboplatin
    3ms
    Peptide Receptor Radionuclide Therapy versus Capecitabine/Temozolomide for the Treatment of Metastatic Pancreatic Neuroendocrine Tumors. (PubMed, Cancers (Basel))
    However, patients with MEN1, DAXX, and/or ATRX mutations or without extrahepatic metastases might better benefit from PRRT and patients with grade 3 disease from CAPTEM. Candidates for surgical debulking or with tumor-induced symptoms may benefit from initial treatment with CAPTEM due to shorter TTR.
    Journal • Metastases
    |
    ATRX (ATRX Chromatin Remodeler) • DAXX (Death-domain associated protein) • MEN1 (Menin 1)
    |
    ATRX mutation
    |
    temozolomide • capecitabine
    7ms
    A common tumour in a rare location: a single centre case series of cerebellar glioblastoma. (PubMed, Br J Neurosurg)
    We hypothesise that increasing anatomical distance from germinal regions and decreased local endogenous neural stem cell activity (which has been associated with glioblastoma) may explain why glioblastoma is rare in the cerebellum. We hereby seek to add to the limited literature on cGB as this is the largest UK cGB series to date.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    8ms
    Management of High-Risk Neuroblastoma with Soft-Tissue-Only Disease in the Era of Anti-GD2 Immunotherapy. (PubMed, Cancers (Basel))
    Neither EFS nor OS were significantly different by CR status after first-line treatment. In conclusion, adding treatment with anti-GD2 mAbs at the stage of MRD helps prevent relapse that unequivocally portends poor survival.
    Journal • IO biomarker
    |
    ALK (Anaplastic lymphoma kinase) • TERT (Telomerase Reverse Transcriptase) • MDM2 (E3 ubiquitin protein ligase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
    |
    ALK mutation • ATRX mutation • CDK4 amplification • TERT mutation
    8ms
    CL1-95032-005: Study of Vorasidenib and Pembrolizumab Combination in Recurrent or Progressive Enhancing IDH-1 Mutant Glioma (clinicaltrials.gov)
    P1, N=72, Recruiting, Institut de Recherches Internationales Servier | Trial primary completion date: Mar 2024 --> Feb 2025
    Trial primary completion date • Combination therapy
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation • IDH1 R132H • IDH1 R132
    |
    Keytruda (pembrolizumab) • Voranigo (vorasidenib)
    8ms
    A validated LC-MS/MS method for determination of neuro-pharmacokinetic behavior of niraparib in brain tumor patients. (PubMed, J Pharm Biomed Anal)
    The validated method is currently employed to assess niraparib levels in human glioblastoma tissue, CSF, and plasma in an ongoing trial on newly diagnosed glioblastoma and recurrent IDH1/2(+) ATRX mutant glioma patients (NCT05076513). Initial results of calculated total (Kp) and unbound (Kp,uu) tumor-to-plasma partition coefficients indicate significant brain penetration ability of niraparib in glioblastoma patients.
    PK/PD data • Journal • PARP Biomarker
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    |
    Zejula (niraparib)
    8ms
    Prognostic Value of ATRX and p53 Status in High-Grade Glioma Patients in Morocco. (PubMed, Cureus)
    The clinical value of IDH and ATRX mutations in prognostic assessment was confirmed (p ≤0.05). The overexpression of p53 had no significant impact on OS (p = 0.726). Therefore, p53 alone cannot predict survival in glioblastoma patients. Based on the results, these biomarkers may be a potential therapeutic target to prolong patient survival, hence the need for further investigations.
    Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • IDH1 mutation • TP53 wild-type • ATRX mutation • IDH1 R132H • TP53 overexpression • IDH1 R132
    9ms
    Intratumoral histological and molecular heterogeneity in an adult diffuse glioma. (PubMed, Clin Neuropathol)
    In summary, this is an excellent example of tumor heterogeneity both histologically and by molecular analysis. It is probable, given the clinical history of presentation 2 years prior, that this tumor originated as a low-grade glioma and subsequently evolved.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    9ms
    Developing Novel Genomic Risk Stratification Models in Soft Tissue and Uterine Leiomyosarcoma. (PubMed, Clin Cancer Res)
    Compared to traditional clinicopathologic models, genomic risk stratification demonstrates superior prediction of clinical outcome in STLMS and is comparable in ULMS.
    Journal
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • RB1 mutation • ATRX mutation
    10ms
    Study of AG-120 and AG-881 in Subjects With Low Grade Glioma (clinicaltrials.gov)
    P1, N=49, Active, not recruiting, Institut de Recherches Internationales Servier | Trial completion date: May 2024 --> May 2025
    Trial completion date
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation • IDH1 R132H • IDH1 R132
    |
    Tibsovo (ivosidenib) • Voranigo (vorasidenib)
    10ms
    Trial of Niraparib in Participants With Newly-diagnosed Glioblastoma and Recurrent Glioma (clinicaltrials.gov)
    P1, N=42, Recruiting, Nader Sanai | Trial completion date: Oct 2024 --> Feb 2025 | Trial primary completion date: Oct 2023 --> Aug 2024
    Trial completion date • Trial primary completion date
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ATRX (ATRX Chromatin Remodeler)
    |
    IDH2 mutation • ATRX mutation
    |
    Zejula (niraparib)
    10ms
    Image Omics Nomogram Based on Incoherent Motion Diffusion-Weighted Imaging in Voxels Predicts ATRX Gene Mutation Status of Brain Glioma Patients. (PubMed, J Imaging Inform Med)
    The AUC value of the D parameter model was 0.97 (95% CI: 0.93-1.00) in the training set and 0.91 (95% CI: 0.79-1.00) in the validation set, which was significantly higher than that of the D* parameter model (0.90, 0.82) and the f parameter model (0.89, 0.91). The imaging genomics nomogram based on IVIM-DWI can effectively predict the ATRX gene status of patients with brain gliomas, with the D parameter showing the highest efficacy.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    10ms
    Fumarate-Deficient Uterine Leiomyosarcoma: Molecular Confirmation of Four Cases (USCAP 2024)
    While exceedingly rarely, FH mutations may be found in uLMS. Confirmation of FH deficiency should not preclude the diagnosis of sarcoma in smooth muscle neoplasms that meet histologic criteria for malignancy.
    Clinical
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • FH (Fumarate Hydratase)
    |
    TP53 mutation • MET mutation • RB1 deletion • ATRX mutation • RB deletion
    |
    FoundationOne® Heme CDx
    11ms
    A real-world experience of pembrolizumab monotherapy in microsatellite instability-high and/or tumor mutation burden-high metastatic castration-resistant prostate cancer: outcome analysis. (PubMed, Prostate Cancer Prostatic Dis)
    Our hypothesis-generating study suggests that MSI-H drives the efficacy of pembrolizumab in mCRPC with better survival outcomes as TMB increases. Clinicians should consider alternative treatment strategies for advanced prostate cancer when TMB-H is present without co-occurring MSI-H or CDK12.
    Journal • Real-world evidence • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker • Real-world • Metastases
    |
    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTCH1 (Patched 1) • CDK12 (Cyclin dependent kinase 12) • ATRX (ATRX Chromatin Remodeler)
    |
    TMB-H • MSI-H/dMMR • ATRX mutation • PTCH1 mutation
    |
    Keytruda (pembrolizumab)
    11ms
    Algorithmic approach utilizing histology and immunohistochemistry for the current classification of diffuse glioma. (PubMed, Int J Clin Exp Pathol)
    Implementation of combined phenotypic-genotypic diagnosis with the use of histomorphology and immunohistochemical surrogates for molecular genetic alterations will yield more homogeneous and narrowly defined diagnostic entities which will provide better prognostication and definitive treatment. It also is cost-effective in a resource-limited setup.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler) • GFAP (Glial Fibrillary Acidic Protein)
    |
    ATRX mutation
    11ms
    Interplay between ATRX and IDH1 mutations governs innate immune responses in diffuse gliomas. (PubMed, Nat Commun)
    Thus, ATRX loss primes cells for recognition of dsRNA, while IDH1 reversibly masks this priming. This work reveals innate immunity as a therapeutic vulnerability of astrocytomas.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    IDH1 mutation • ATRX mutation
    11ms
    Survival Analysis and Correlates with Molecular Epidemiology: 10-Year Retrospective Series of High-Grade Glioma in Pakistan. (PubMed, J Cancer Allied Spec)
    265 patients within the cohort completed postoperative radiotherapy, while 141 patients underwent chemotherapy (procarbazine, lomustine, and vincristine, or temozolomide). Of particular importance, molecular sub-classification significantly predicted survival outcomes for IDH, ATRX, and 1p19 co-deletion mutations. Expanding brain tumor epidemiology will benefit assessing the efficacy of regional oncological centers and establishing standards of care.
    Retrospective data • Journal
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation • IDH wild-type
    |
    temozolomide • vincristine • lomustine • Matulane (procarbazine hydrochloride)
    11ms
    A fusion model integrating magnetic resonance imaging radiomics and deep learning features for predicting alpha-thalassemia X-linked intellectual disability mutation status in isocitrate dehydrogenase-mutant high-grade astrocytoma: a multicenter study. (PubMed, Quant Imaging Med Surg)
    The fusion model showed the best prediction performance with an area under curve of 0.969 in the training set, 0.956 in the validation set, and 0.949 in the test set as compared to the optimal imaging model (0.966, 0.916, and 0.936, respectively) and clinical model (0.677, 0.641, 0.772, respectively). The clinical trait-imaging fusion model based on preoperative MRI could effectively predict the ATRX mutation status of individuals with IDH-mutant high-grade astrocytoma and has the potential to help patients through the development of a more effective treatment strategy before treatment.
    Clinical • Journal • MRI
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation
    1year
    ATRX is a predictive marker for endocrinotherapy and chemotherapy resistance in HER2-/HR+ breast cancer through the regulation of the AR, GLI3 and GATA2 transcriptional network. (PubMed, Aging (Albany NY))
    Three first-line drug (paclitaxel, doxorubicin and tamoxifen) resistance datasets in BC from GEO were merged to obtain 1,461 differentially expressed genes for weighted correlation network analysis, resulting in identifying ATRX as the hub gene. Importantly, overexpression of ATRX significantly inhibited the IC of the three first-line drugs on MCF-7 cell. Thus, ATRX is an efficient predictive biomarker for endocrinotherapy and chemotherapy resistance in HER2-/HR+ BC and acts by suppressing the AR, GLI3 and GATA2 transcriptional network.
    Journal • BRCA Biomarker
    |
    HER-2 (Human epidermal growth factor receptor 2) • ATRX (ATRX Chromatin Remodeler) • BRCA (Breast cancer early onset) • GATA2 (GATA Binding Protein 2) • GLI3 (GLI Family Zinc Finger 3)
    |
    ATRX mutation • BRCA mutation
    |
    paclitaxel • tamoxifen • doxorubicin hydrochloride
    1year
    Multiparametric MRI and T2/FLAIR mismatch complements the World Health Organization 2021 classification for the diagnosis of IDH-mutant 1p/19q non-co-deleted/ATRX-mutant astrocytoma. (PubMed, Clin Radiol)
    The T2/FLAIR mismatch sign detected diffuse astrocytomas with 100% specificity. When combined with high Cho/Cr and raised rCBV, this predicted histological grading with high accuracy. The future direction for imaging should explore a similar integrated layered approach of 2021 classification of central nervous system (CNS) tumours combining radio-phenotyping and grading from structural and multiparametric imaging.
    Journal
    |
    ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation • ATRX deletion
    1year
    General Clinico-Pathological Characteristics in Glioblastomas in Correlation with p53 and Ki67. (PubMed, Medicina (Kaunas))
    In this study, we described the most common clinico-pathological characteristics and IHC marker expression profiles, highlighting a variety of percentage ranges in primary and secondary glioblastomas. Given the small number of studied cases, further prospective studies on larger cohorts are needed in the future to evaluate the role of these immunohistochemical markers as prognostic factors for survival or recurrence.
    Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
    |
    IDH1 mutation • TP53 wild-type • ATRX mutation • TP53 expression
    1year
    Mutation analysis of the TERT gene in ovarian cancer patients of the Turkish population by next generation sequencing method. (PubMed, Cell Mol Biol (Noisy-le-grand))
    These mutations were not previously associated with ovarian cancer and are considered novel candidate markers for ovarian cancer susceptibility. Confirmation of these results through larger cohort studies or functional investigations will contribute to a better understanding of the molecular mechanisms underlying ovarian cancer.
    Journal • Next-generation sequencing
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • TERT (Telomerase Reverse Transcriptase) • ATRX (ATRX Chromatin Remodeler)
    |
    ATRX mutation • TERT mutation
    1year
    Multiomic sequencing of paired primary and metastatic small bowel carcinoids. (PubMed, F1000Res)
    Transcriptome sequencing added relevant information that would not have been appreciated with DNA sequencing alone. The detection of several splicing mutations on the DNA level and their consequences at the RNA level suggests that RNA splicing aberrations may be an important mechanism underlying carcinoid tumors.
    Journal • Tumor mutational burden • Metastases
    |
    TMB (Tumor Mutational Burden) • ATRX (ATRX Chromatin Remodeler) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
    |
    TMB-L • ATRX mutation
    1year
    Clinicopathologic analysis of novel methylation clusters of IDH-wildtype diffuse gliomas (SNO 2023)
    HGG_F separate into two groups dictated by brain location, and despite the presence of TERT promoter mutations, appear distinct from GBMs. Overall, our work represents an initial effort to understand the morphologic, genomic and clinical characteristics of these previously uncharacterized subtypes of gliomas.
    Clinical • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • POLE (DNA Polymerase Epsilon) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler)
    |
    POLE mutation • CDKN2A mutation • MGMT promoter methylation • ATRX mutation • TERT mutation • IDH wild-type • TERT promoter mutation
    1year
    IDH mutant astrocytomas without receiving adjuvant treatment do not develop hypermutation or specific gene mutation and MYC, CDKN2A and PDGFRA are involved in malignant transformation (SNO 2023)
    IDH-mutant low grade astrocytomas not being treated with temozolomide or irradiation do not develop hypermutation or specific gene mutation for their natural evolution and malignant transformation.
    Clinical
    |
    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • POLE (DNA Polymerase Epsilon) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • POLE mutation • NOTCH1 mutation • CDKN2A deletion • CDKN2A mutation • ATRX mutation • PDGFRA mutation
    |
    temozolomide
    1year
    Clinical and molecular features of patients with Li-Fraumeni Syndrome and glioma: an MD Anderson Cancer Center experience (SNO 2023)
    LFS patients may have glioma with higher incidence of non-canonical IDH1 mutations, lower likelihood of ATRX and IDH1 co-mutations, and less likely to be treated upfront after initial diagnosis despite having high risk profile for low grade glioma.
    Clinical
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MGMT (6-O-methylguanine-DNA methyltransferase) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • IDH1 mutation • ATRX mutation • IDH1 R132H • IDH wild-type • IDH1 R132
    1year
    Molecular biomarkers associated with targeted disruption of Alternative Lengthening of Telomeres in ATRX-deficient glioma models (SNO 2023)
    In an orthotopic model of ALT-positive glioma, doxycycline-inducible RNAi targeting SMARCAL1 extended the median survival of tumor-bearing animals to 155 days compared to 111 days in the non-targeting control condition. These data validate the therapeutic targetability of SMARCAL1 in ALT-positive gliomas and support the development of small molecule SMARCAL1 inhibitors for treatment of ALT-positive tumors.
    ATRX (ATRX Chromatin Remodeler) • CASP3 (Caspase 3) • FANCM (FA Complementation Group M)
    |
    ATRX mutation
    1year
    Molecular biomarkers associated with targeted disruption of Alternative Lengthening of Telomeres in ATRX-deficient glioma models (SNO 2023)
    In an orthotopic model of ALT-positive glioma, doxycycline-inducible RNAi targeting SMARCAL1 extended the median survival of tumor-bearing animals to 155 days compared to 111 days in the non-targeting control condition. These data validate the therapeutic targetability of SMARCAL1 in ALT-positive gliomas and support the development of small molecule SMARCAL1 inhibitors for treatment of ALT-positive tumors.
    ATRX (ATRX Chromatin Remodeler) • CASP3 (Caspase 3) • FANCM (FA Complementation Group M)
    |
    ATRX mutation