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    BIOMARKER:

    RB1 wild-type

    i
    Other names: RB1, RB Transcriptional Corepressor 1, Protein Phosphatase 1 Regulatory Subunit 130, Prepro-Retinoblastoma-Associated Protein, Retinoblastoma-Associated Protein, Retinoblastoma 1, P110-RB1, P105-Rb, Pp110, PRb, Exon 17 Tumor GOS561 Substitution Mutation Causes Premature Stop, GOS563 Exon 17 Substitution Mutation Causes Premature Stop, Retinoblastoma Suspectibility Protein, Osteosarcoma, PPP1R130, OSRC, RB, Rb, pRb
    Entrez ID:
    5925
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    1year
    Differentiating MYCN-amplified RB1 wild-type retinoblastoma from biallelic RB1 mutant retinoblastoma using MR-based radiomics: a retrospective multicenter case-control study. (PubMed, Sci Rep)
    SHAP analysis highlighted lower sphericity, higher flatness, and greater gray-level heterogeneity as predictive for MYCNampRB1+/+ status, yielding an AUC of 0.81 (SD 0.11). This study shows the potential of MRI-based radiomics to distinguish MYCNampRB1+/+ and RB1-/- retinoblastoma subtypes.
    Retrospective data • Journal
    |
    RB1 (RB Transcriptional Corepressor 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor)
    |
    MYCN amplification • RB1 mutation • RB1 wild-type
    almost2years
    CDK4/MDM2 Amplification Is a Rare Targetable Genomic Event in TP53/RB1-Wildtype Uterine Leiomyosarcoma (USCAP 2024)
    Overall, in our uLMS analysis, CDK4 and/or MDM2 amplification was identified in a small subset (2%) of uLMS, the majority of which are TP53/RB1-wildtype. This may suggest that CDK4/MDM2 amplification can be an alternative tumorigenic mechanism in this distinct class of uLMS, which may have therapeutic clinical implications, including possible use of specific cyclin-dependent kinase inhibitors.
    Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • MDM2 amplification • CDK4 amplification • MDM2 amplification + CDK4 amplification • RB1 wild-type • CDK4 mutation
    |
    FoundationOne® Heme CDx
    almost2years
    CDK4/MDM2 Amplification Is a Rare Targetable Genomic Event in TP53/RB1-Wildtype Uterine Leiomyosarcoma (USCAP 2024)
    Overall, in our uLMS analysis, CDK4 and/or MDM2 amplification was identified in a small subset (2%) of uLMS, the majority of which are TP53/RB1-wildtype. This may suggest that CDK4/MDM2 amplification can be an alternative tumorigenic mechanism in this distinct class of uLMS, which may have therapeutic clinical implications, including possible use of specific cyclin-dependent kinase inhibitors.
    Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CDK4 (Cyclin-dependent kinase 4) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • MDM2 amplification • CDK4 amplification • MDM2 amplification + CDK4 amplification • RB1 wild-type • CDK4 mutation
    |
    FoundationOne® Heme CDx
    almost2years
    Imaging predictors of 4q12 amplified and RB1 mutated glioblastoma IDH-wildtype. (PubMed, J Neurooncol)
    Patients with glioblastoma IDH-wildtype harboring 4q12 amplification rarely have restricting DWI patterns compared to their wildtype counterparts, in which this DWI pattern is present in ~ 50% of patients. This suggests that some phenotypic imaging characteristics can be identified among molecular subtypes of IDH-wildtype glioblastoma.
    Journal
    |
    RB1 (RB Transcriptional Corepressor 1)
    |
    RB1 mutation • IDH wild-type • RB1 wild-type
    2years
    Tepotinib in patients with non-small cell lung cancer with high-level MET amplification detected by liquid biopsy: VISION Cohort B. (PubMed, Cell Rep Med)
    Adverse events include edema (composite term; any grade: 58.3%; grade 3: 12.5%) and constipation (any grade: 41.7%; grade 3: 4.2%). Tepotinib provides antitumor activity in high-level METamp NSCLC (ClinicalTrials.gov: NCT02864992).
    Journal • Liquid biopsy • Biopsy
    |
    MET (MET proto-oncogene, receptor tyrosine kinase) • RB1 (RB Transcriptional Corepressor 1)
    |
    MET amplification • RB1 wild-type
    |
    Tepmetko (tepotinib)
    2years
    Tumor-derived biomarkers predict efficacy of B7H3 antibody-drug conjugate treatment in metastatic prostate cancer models. (PubMed, J Clin Invest)
    Overall, biomarker-focused selection of models led to high efficacy of in vivo treatment. These data enable a paradigm shift to biomarker-driven trial designs for maximizing clinical benefit of ADC therapies.
    Preclinical • Journal • Metastases
    |
    TP53 (Tumor protein P53) • AR (Androgen receptor) • RB1 (RB Transcriptional Corepressor 1) • CD276 (CD276 Molecule) • SLFN11 (Schlafen Family Member 11)
    |
    TP53 mutation • TP53 wild-type • AR positive • SLFN11 expression • CD276 expression • RB1 wild-type
    2years
    Alterations in EGFR and PDGFRA are associated with the localization of contrast-enhancing lesions in glioblastoma. (PubMed, Neurooncol Adv)
    And PDGFRA alteration correlated with multiple lesions. Our results suggest that clarifying the association between driver genes and tumor localization may be useful in clinical practice, including prognosis prediction.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    IDH wild-type • RB1 wild-type
    over2years
    A Study of Abemaciclib in Recurrent Glioblastoma (clinicaltrials.gov)
    P2; Trial completion date: Jun 2024 --> Jun 2025 | Trial primary completion date: Jun 2023 --> Jun 2024
    Trial completion date • Trial primary completion date
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CDK6 (Cyclin-dependent kinase 6)
    |
    CDKN2A deletion • CDK4 amplification • IDH wild-type • RB1 wild-type
    |
    OncoPanel™ Assay
    |
    Verzenio (abemaciclib)
    over2years
    Integrative analysis of a large real-world cohort of small cell lung cancer identifies distinct genetic subtypes and insights into histological transformation. (PubMed, Cancer Discov)
    Finally, profiling cases of SCLC containing oncogenic drivers typically associated with NSCLC demonstrates that SCLC transformation may occur across multiple distinct molecular cohorts of NSCLC. These novel and unsuspected genetic features of SCLC may help personalize treatment approaches for this fatal form of cancer.
    Journal • Real-world evidence • Real-world
    |
    TP53 (Tumor protein P53) • STK11 (Serine/threonine kinase 11) • RB1 (RB Transcriptional Corepressor 1) • CCNE1 (Cyclin E1)
    |
    TP53 mutation • STK11 mutation • CCNE1 amplification • RB1 wild-type
    over2years
    MRI Features for Identifying MYCN-amplified RB1 Wild-type Retinoblastoma. (PubMed, Radiology)
    © RSNA, 2023 Supplemental material is available for this article. See also the editorial by Rollins in this issue
    Journal
    |
    RB1 (RB Transcriptional Corepressor 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor)
    |
    MYCN amplification • RB1 wild-type
    over2years
    Comprehensive analysis of 3,600 small cell lung cancer cases reveals rare genetic subtypes and multiple mechanisms of histological transformation (AACR 2023)
    Our work underscores the existence of genetic subtypes in SCLC, including rare subtypes with potential clinical utility. Findings from this study provide an improved understanding of genetic subtypes in SCLC and better inform mechanisms of transformation to SCLC from NSCLC, that may further guide the development of personalized therapies for subsets of patients with this fatal tumor.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • ALK (Anaplastic lymphoma kinase) • PTEN (Phosphatase and tensin homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CCND1 (Cyclin D1) • CCNE1 (Cyclin E1) • KDR (Kinase insert domain receptor)
    |
    TP53 mutation • EGFR mutation • NTRK1 fusion • ALK fusion • CCNE1 amplification • RB1 wild-type