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    BIOMARKER:

    RB deletion

    i
    Other names: RB, RB Transcriptional Corepressor 1, Protein Phosphatase 1, Regulatory Subunit 130, Prepro-Retinoblastoma-Associated Protein, Retinoblastoma-Associated Protein, Retinoblastoma, 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
    Entrez ID:
    5925
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    1year
    Chromosome 13q deletion and lethal prostate cancer: Biomarker to cancer therapeutics (PCF 2024)
    Our study aims to systematically evaluate how Chr13q deletion impacts the progression of PC and its susceptibility to treatment. We anticipate that our study will establish a solid foundation of knowledge that can be used to identify aggressive primary PC and the related risk of progressing to lethal CRPC. This will help develop more effective treatments for patients with aggressive and lethal PC, particularly those with Chr13q..
    PARP Biomarker • BRCA Biomarker
    |
    BRCA2 (Breast cancer 2, early onset) • RB1 (RB Transcriptional Corepressor 1)
    |
    BRCA wild-type • RB1 deletion • BRCA2 deletion • BRCA1 deletion • RB deletion
    |
    MSK-IMPACT
    1year
    The neuroendocrine transition in prostate cancer is dynamic and dependent on ASCL1. (PubMed, Nat Cancer)
    Ascl1 loss in established NEPC causes transient regression followed by recurrence, but its deletion before transplantation abrogates lineage plasticity, resulting in castration-sensitive adenocarcinomas. This dynamic model highlights the importance of therapy timing and offers a platform to identify additional lineage plasticity drivers.
    Journal
    |
    TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ASCL1 (Achaete-Scute Family BHLH Transcription Factor 1)
    |
    TP53 mutation • PTEN mutation • RB1 deletion • RB1 mutation • RB deletion
    1year
    A Genome Wide CRISPR Screen Reveals That HOXA9 Promotes Enzalutamide Resistance in Prostate Cancer. (PubMed, Mol Cell Biol)
    Combination of the HOXA9 inhibitor DB818 with enzalutamide demonstrates synergy. This demonstrates the utility of our CRISPR screen data in discovering new approaches for treating enzalutamide resistant prostate cancer.
    Journal
    |
    HOXA9 (Homeobox A9)
    |
    HOXA9 overexpression • RB deletion
    |
    Xtandi (enzalutamide)
    over1year
    Therapeutic Strategies for RB1-Deficient Cancers: Intersecting Gene Regulation and Targeted Therapy. (PubMed, Cancers (Basel))
    Recently, several findings highlighted multiple methods as a promising strategy for combating tumor growth driven by RB1 loss, offering potential clinical benefits in various cancer types. This review summarizes the multifaceted role of RB1 in cancer biology and its implications for targeted therapy.
    Review • Journal
    |
    RB1 (RB Transcriptional Corepressor 1)
    |
    RB1 deletion • RB deletion
    over1year
    ZEN-3694, Enzalutamide, and Pembrolizumab for the Treatment of Metastatic Castration-Resistant Prostate Cancer (clinicaltrials.gov)
    P2, N=54, Recruiting, Rahul Aggarwal | Trial completion date: Dec 2025 --> Apr 2027 | Trial primary completion date: Dec 2025 --> Apr 2027
    Trial completion date • Trial primary completion date • Combination therapy • Metastases
    |
    PD-L1 (Programmed death ligand 1) • RB1 (RB Transcriptional Corepressor 1)
    |
    RB1 deletion • RB deletion
    |
    Keytruda (pembrolizumab) • Xtandi (enzalutamide) • ZEN-3694
    over1year
    Cyclin dependent kinase 4/6 inhibitor palbociclib synergizes with BCL2 inhibitor venetoclax in experimental models of mantle cell lymphoma without RB1 deletion. (PubMed, Exp Hematol Oncol)
    Our data strongly support investigation of the chemotherapy-free palbociclib and venetoclax combination as an innovative treatment strategy for post-ibrutinib MCL patients without RB1 deletion.
    Journal • IO biomarker
    |
    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • MCL1 (Myeloid cell leukemia 1) • BCL2L1 (BCL2-like 1)
    |
    CDKN2A deletion • RB1 deletion • MYC expression • CDK4 overexpression • CDKN2A overexpression • RB deletion
    |
    Venclexta (venetoclax) • Ibrance (palbociclib) • Imbruvica (ibrutinib)
    almost2years
    Single cell-transcriptomic analysis informs the lncRNA landscape in metastatic castration resistant prostate cancer. (PubMed, NPJ Genom Med)
    Prostate-lncRNAs were correlated with AR mutational status and response to treatment with enzalutamide, while TME-lncRNAs were associated with RB1 deletions and poor prognosis. Finally, lncRNAs identified between prostate adenocarcinomas and neuroendocrine tumors exhibited distinct expression and methylation profiles. Our findings demonstrate the ability of single-cell analysis to refine our understanding of lncRNAs in mCRPC and serve as a resource for future mechanistic studies.
    Journal • Metastases
    |
    RB1 (RB Transcriptional Corepressor 1)
    |
    RB1 deletion • AR mutation • RB deletion
    |
    Xtandi (enzalutamide)
    almost2years
    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
    almost2years
    Atypical Spindle Cell/Pleomorphic Lipomatous Tumor. (PubMed, Surg Pathol Clin)
    ASCPLTs lack MDM2 amplification, but a large subset show RB1 deletion and variable expression of CD34. Though initially thought to be the malignant form of spindle cell lipoma, ASCPLTs are benign with local recurrences (∼10-15%) and no well-documented dedifferentiation or metastasis.
    Review • Journal
    |
    RB1 (RB Transcriptional Corepressor 1) • MDM2 (E3 ubiquitin protein ligase) • CD34 (CD34 molecule)
    |
    MDM2 amplification • RB1 deletion • RB deletion
    almost2years
    Proteogenomic characterization of small cell lung cancer identifies biological insights and subtype-specific therapeutic strategies. (PubMed, Cell)
    Cell line and patient-derived xenograft-based drug tests validated the specific therapeutic responses predicted by multi-omics subtyping. This study provides a valuable resource as well as insights to better understand SCLC biology and improve clinical practice.
    Journal
    |
    RB1 (RB Transcriptional Corepressor 1) • FAT1 (FAT atypical cadherin 1) • ZFHX3 (Zinc Finger Homeobox 3) • CASP10 (Caspase 10)
    |
    RB1 deletion • RB1 mutation • FAT1 mutation • RB deletion • ZFHX3 mutation
    2years
    Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: implications for diagnosis, prognosis and therapeutic options. Five years of Progress. (PubMed, Am J Ophthalmol)
    Establishing an AH liquid biopsy for RB is aimed at addressing 1) our inability to biopsy tumor tissue and 2) the lack of molecular biomarkers for intraocular prognosis. Current management decisions for RB are made based solely on clinical features without objective molecular testing. This prognostic study shows great promise for using AH as a companion diagnostic.
    Journal • Liquid biopsy • Companion diagnostic • Biopsy
    |
    RB1 (RB Transcriptional Corepressor 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor)
    |
    RB1 deletion • RB deletion
    2years
    Clinicopathologic characterization of diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype: an aggressive and genomically complex group of tumors affecting children and adults (SNO 2023)
    Overall, while the pediatric and adult pHGG have similar outcomes, there are differences in their genomic structures, most notably in adult pHGG harboring a higher SCNA load. Overall, pHGG represent a biologically diverse set of clinically aggressive tumors that warrant further intensive study.
    Clinical
    |
    EGFR (Epidermal growth factor receptor) • MET (MET proto-oncogene, receptor tyrosine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MGMT (6-O-methylguanine-DNA methyltransferase) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • MDM4 (The mouse double minute 4) • CDK6 (Cyclin-dependent kinase 6)
    |
    MET amplification • CDKN2A deletion • MYCN amplification • MGMT promoter methylation • RB1 deletion • MDM4 amplification • IDH wild-type • RB deletion • CDK6 amplification