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BIOMARKER:

ATRX deletion

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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:
Related biomarkers:
3ms
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
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ATRX (ATRX Chromatin Remodeler)
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ATRX mutation • ATRX deletion
8ms
Detection of alternative lengthening of telomeres (ALT) across cancer types based on tumor-normal multigene panel sequencing (ESMO 2023)
Conclusions Deep learning can detect ALT cancers from targeted sequencing data across various cancer types. This new method enables the dissection of genomic and phenotypic characteristics of ALT cancers in large retrospective cohorts with available targeted sequencing data, while providing a potentially high-throughput, accessible means to enroll patients in prospective studies targeting the ALT phenotype.
TERT (Telomerase Reverse Transcriptase) • ATRX (ATRX Chromatin Remodeler) • DAXX (Death-domain associated protein)
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ATRX mutation • ATRX deletion
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MSK-IMPACT
9ms
Atrx deletion impairs CGAS/STING signaling and increases sarcoma response to radiation and oncolytic herpesvirus. (PubMed, J Clin Invest)
We found that both human and mouse models of Atrx deleted sarcoma had a reduced adaptive immune response, markedly impaired CGAS/STING signaling, and increased sensitivity to TVEC, an oncolytic herpesvirus that is currently FDA approved for the treatment of aggressive melanomas. Translation of these results to patients with ATRX mutant cancers could enable genomically-guided cancer therapeutic approaches that improve patient outcomes.
Journal • Oncolytic virus
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ATRX (ATRX Chromatin Remodeler)
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ATRX mutation • ATRX deletion
11ms
Artificial-intelligence-based molecular classification of diffuse gliomas using rapid, label-free optical imaging. (PubMed, Nat Med)
In a prospective, multicenter, international testing cohort of patients with diffuse glioma (n = 153) who underwent real-time SRH imaging, we demonstrate that DeepGlioma can predict the molecular alterations used by the World Health Organization to define the adult-type diffuse glioma taxonomy (IDH mutation, 1p19q co-deletion and ATRX mutation), achieving a mean molecular classification accuracy of 93.3 ± 1.6%. Our results represent how artificial intelligence and optical histology can be used to provide a rapid and scalable adjunct to wet lab methods for the molecular screening of patients with diffuse glioma.
Journal
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ATRX (ATRX Chromatin Remodeler)
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ATRX mutation • ATRX deletion
1year
B7-H3-CAR T cells for the treatment of pediatric adrenocortical carcinoma (AACR 2023)
These findings provide a strong rationale for clinically evaluating B7-H3-CAR T for pediatric patients with chemotherapy-resistant ACC. Additionally, the newly established pediatric ACC PDX models provide a valuable resource for investigating different aspects of this rare and aggressive disease.
Clinical • CAR T-Cell Therapy • IO biomarker
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TP53 (Tumor protein P53) • CD276 (CD276 Molecule) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • ATRX (ATRX Chromatin Remodeler)
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TP53 mutation • CD276 expression • ATRX deletion
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B7-H3 CAR-T
1year
Genomic profiling and prognostic factors of H3 K27M-mutant spinal cord diffuse glioma. (PubMed, Brain Pathol)
Interestingly, the histological type, an independent prognostic factor in multivariate Cox regression, can also stratify molecular features of H3 K27M-mutant spinal cord glioma, including the RB pathway, KRAS/PI3K pathway, and chromosome arms CNV. In conclusion, although all H3 K27M-mutant spinal cord diffuse glioma were diagnosed as WHO Grade 4, the histological type, molecular features representing chromatin instability, and molecular alterations associated with accelerated cell proliferative activity should not be ignored in clinical management.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NF1 (Neurofibromin 1) • ATRX (ATRX Chromatin Remodeler) • CDK6 (Cyclin-dependent kinase 6) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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TP53 mutation • KRAS mutation • NF1 mutation • ATRX mutation • ATRX deletion • CDK6 amplification
over1year
Mullerian adenosarcoma: clinicopathologic and molecular characterization highlighting recurrent BAP1 loss and distinctive features of high-grade tumors. (PubMed, Mod Pathol)
Notably, out of 196 mesenchymal neoplasms of gynecologic origin, BAP1 homozygous deletion was only found in adenosarcomas (P = 0.0003). This study demonstrates that high-grade adenosarcomas are heterogeneous at the molecular level and are characterized by genomic instability and TP53 mutations; ATRX loss may be involved in high-grade transformation of low-grade adenosarcoma; and BAP1 inactivation appears to be a specific pathogenic driver in a subset of adenosarcomas.
Journal
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ER (Estrogen receptor) • TP53 (Tumor protein P53) • ARID1A (AT-rich interaction domain 1A) • TERT (Telomerase Reverse Transcriptase) • CCNE1 (Cyclin E1) • MDM2 (E3 ubiquitin protein ligase) • BAP1 (BRCA1 Associated Protein 1) • MLH1 (MutL homolog 1) • ATRX (ATRX Chromatin Remodeler) • DICER1 (Dicer 1 Ribonuclease III) • NCOA3 (Nuclear Receptor Coactivator 3)
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TP53 mutation • ARID1A mutation • CCNE1 amplification • BAP1 mutation • ATRX mutation • BAP1 deletion • TERT mutation • ATRX deletion • TERT promoter mutation
almost2years
The mutational spectrum of ATRX aberrations in neuroblastoma and the associated patient and tumor characteristics. (PubMed, Cancer Sci)
Surprisingly, we found that 11q deletions are enriched in neuroblastomas with ATRX deletions compared to a reference cohort, but not in neuroblastomas with ATRX point mutations. Taken together our data emphasizes a distinct ATRX mutation spectrum in neuroblastoma, which should be considered when studying molecular phenotypes and therapeutic strategies.
Journal
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ATRX (ATRX Chromatin Remodeler)
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Chr del(11q) • ATRX mutation • ATRX deletion
over2years
ATRX DELETION IMPAIRS CGAS-STING SIGNALING AND INCREASES RESPONSE TO RADIATION AND ONCOLYTIC HERPESVIRUS IN SOFT TISSUE SARCOMA (CTOS 2021)
To generate the first primary mouse model of soft tissue sarcoma, 4-hydroxytamoxifen (4-OHT) was injected into the gastrocnemius muscle... Collectively, these results show that loss of ATRX function impairs the cGAS-STING signaling pathway in soft tissue sarcomas and promotes their response to radiation therapy and oncolytic virus therapy. These findings identify ATRX as a biomarker in treatment response and identify novel genomically-informed therapeutic strategies for treatment of soft tissue sarcoma.
Oncolytic virus • IO biomarker
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KRAS (KRAS proto-oncogene GTPase) • ATRX (ATRX Chromatin Remodeler)
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KRAS G12D • KRAS G12 • TP53 expression • ATRX deletion • KRAS deletion • KRAS expression
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tamoxifen
over2years
Feasibility of Single-Pass Stereotactic Needle Biopsy in Recurrent Glioblastoma Patients to Support CLIA-Certified Tumor Pharmacodynamics for a Phase 0/2 Clinical Trial (SNO 2021)
Based on IHC and genetic analyses of the biopsied samples, three patients were enrolled into the Phase 0/2 clinical trial and baseline value were used for PD analysis. CONCLUSION Single-pass stereotactic needle biopsy is a feasible and safe strategy to collect pre-treatment tissue in support of a Phase 0 clinical trial, enabling CLIA-certified genetic analysis for trial screening and tumor PD analysis.
Clinical • PK/PD data
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TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ATRX (ATRX Chromatin Remodeler)
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TP53 mutation • PTEN mutation • CDKN2A deletion • ATRX mutation • ATRX deletion
over2years
Molecular diagnostics helps to identify distinct subgroups of spinal astrocytomas. (PubMed, Acta Neuropathol Commun)
DMG-H3 tend to develop in adolescence with a similar dismal prognosis like GBM and HAP in the elderly. We here describe spinal HAP with a distinct molecular profile for the first time.
Journal
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PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ATRX (ATRX Chromatin Remodeler)
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PIK3CA mutation • CDKN2A deletion • ATRX mutation • ATRX deletion