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    BIOMARKER:

    RB1 mutation + TP53 mutation

    i
    Other names: TP53, Tumor Protein P53, Cellular Tumor Antigen P53, Phosphoprotein P53, Tumor Protein P53, Antigen NY-CO-13, Transformation-Related Protein 53, Mutant Tumor Protein 53, P53 Tumor Suppressor, Tumor Suppressor P53, Tumor Protein 53, BMFS5, TRP53, BCC7, LFS1, 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 Substituti
    Entrez ID:
    7157; 5925
    Related biomarkers:
    Expression
    Mutation
    CNA
    Fusion
    Others
    1year
    HPV is an essential driver in recurrence of cervical cancer. (PubMed, Pathol Res Pract)
    In high-risk HPV-positive CC patients, HPV seems to play a role in recurrent disease. Our findings support ongoing research on targeting HPV oncogenes in CC, also in metastatic disease.
    Journal
    |
    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1)
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    TP53 mutation • RB1 mutation • CDKN2A negative • TP53 expression • RB1 mutation + TP53 mutation • CDKN2A expression
    1year
    Prognostic and predictive significance of p53 and ATRX in neuroendocrine neoplasms of GIT and pancreas and their utility as an adjunct to accurate diagnosis-An eight-year retrospective study. (PubMed, Indian J Gastroenterol)
    G3NETs are genetically different from NECs. Use of immunohistochemistry for p53 in addition to histomorphology may facilitate accurate categorization of NEC and G3NET. Mutated p53 may also be used as an independent prognostic marker in neuroendocrine tumors of GIT and pancreas.
    Retrospective data • Journal
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    RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler) • DAXX (Death-domain associated protein)
    |
    TP53 mutation • RB1 mutation • TP53 expression • RB1 mutation + TP53 mutation
    1year
    Combination of Cytologic Findings and Circulating Tumor DNA From Cerebrospinal Fluid Revealed SCLC Transformation in Patients With Leptomeningeal Metastases of Lung Adenocarcinoma. (PubMed, JTO Clin Res Rep)
    SCLC transformation may be revealed in CSF by both cytologic evaluation and ctDNA, not just in tissue that underwent rebiopsy. SCLC transformation of CSF is informative for resistance mechanism in patients with LUAD with LM on tyrosine kinase inhibitor progression, which was associated with poor survival.
    Journal • Circulating tumor DNA
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)
    |
    TP53 mutation • EGFR mutation • EGFR L858R • EGFR exon 19 deletion • RB1 mutation • EGFR L858R + EGFR exon 21 deletion • RB1 mutation + TP53 mutation
    1year
    Evaluation of the predictive ability of TP53 gene mutation by immunohistochemistry in Japanese patients with ductal adenocarcinoma of the prostate (ESMO Asia 2024)
    Conclusions Both mutation-positive and mutation-negative predictive value were 100%, indicating that TP53 mutations in Japanese DCa patients can be accurately detected by p53 IHC staining as a surrogate prognostic biomarker. These results suggest that p53 IHC staining may contribute to future multicenter, multi-case studies in terms of simplicity and versatility.
    Clinical
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)
    |
    TP53 mutation • RB1 mutation • RB1 mutation + TP53 mutation
    |
    FoundationOne® CDx
    almost2years
    Folliculin (FLCN) Alterations in Thyroid Carcinoma: Incidence, Significance and Extraordinary Role as a Driver Gene in an Aggressive Mixed Papillary and Oncocytic Thyroid Carcinoma (USCAP 2024)
    FLCN alterations are exceedingly rare in TCa with an incidence of pathogenic changes below 1%. However, FLCN may exceptionally serve as a key driver mutation in TCa, based on our index patient. Identification of FLCN mutations may be clinically important due to possible presence of a germline mutation predisposing to renal tumors and potential responsiveness to immune checkpoint inhibitors.
    PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • RB1 (RB Transcriptional Corepressor 1) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • FLCN (Folliculin) • PAX8 (Paired box 8)
    |
    TP53 mutation • TMB-L • RB1 mutation • TTF1 expression + PD-L1 expression • FLCN mutation • NKX2-1 expression • RB1 mutation + TP53 mutation • TTF1 expression
    |
    MSK-IMPACT
    almost2years
    Comprehensive Analysis of METTLs (METTL1/13/18/21A/23/25/2A/2B/5/6/9) and Associated mRNA Risk Signature in Hepatocellular Carcinoma. (PubMed, Anal Cell Pathol (Amst))
    In addition, this study constructed a protein interaction network network including METTLs and mRNA risk signature genes related to tumor microenvironment remodeling based on single-cell sequencing. In conclusion, this study provides a theoretical basis for the mechanism, biomarker screening, and treatment of HCC.
    Journal • Tumor mutational burden
    |
    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • RB1 (RB Transcriptional Corepressor 1) • METTL1 (Methyltransferase 1, TRNA Methylguanosine) • METTL3 (Methyltransferase Like 3)
    |
    TP53 mutation • RB1 mutation • RB1 mutation + TP53 mutation
    2years
    A novel orthotopic murine model of neuroendocrine bladder cancer: insights into the molecular drivers of small cell bladder cancer (SCBC) (SUO 2023)
    We developed a novel genetically engineered orthotopic murine model of SCBC which is histologically and morphologically similar to human SCBC. Gene expression profiling of neuroendocrine bladder tumors from these mice suggest FOXA2 may play a role in the initiation and development of the neuroendocrine phenotype. Ongoing work seeks to further characterize the role of FOXA2 in neuroendocrine differentiation and identify other genetic and epigenetic markers that may cooperatively contribute to the development of this aggressive variant of bladder cancer.
    Preclinical
    |
    TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • FOXA2 (Forkhead Box A2) • SYP (Synaptophysin)
    |
    TP53 mutation • MYC expression • TP53 expression • RB1 mutation + TP53 mutation
    over2years
    POU2F3: A Sensitive and Specific Diagnostic Marker for Neuroendocrine-low/negative Small Cell Lung Cancer. (PubMed, Am J Surg Pathol)
    One case of esophageal NE tumor was nuclear-positive, while the normal proliferating squamous epithelium was strongly membrane-stained. This is the largest cohort of clinical samples to confirm that POU2F3 is a highly sensitive and specific diagnostic marker for NE-low/negative SCLC.
    Journal
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • NKX2-1 (NK2 Homeobox 1) • POU2F3 (POU Class 2 Homeobox 3)
    |
    TP53 mutation • RB1 mutation • POU2F3 expression • RB1 mutation + TP53 mutation
    over2years
    IMMUNOCOMPETENT MODELING OF PLEOMORPHIC LIPOSARCOMA (CTOS 2023)
    A genetically engineered RPP mice reliably produced soft-tissue tumors consistent with pleomorphic liposarcoma, which immunological findings consist with other soft-tissue sarcomas. This model may demonstrate utility in testing treatments for this rare disease, including immunomodulatory therapies.
    PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • CD8 (cluster of differentiation 8) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • ITGAM (Integrin, alpha M)
    |
    TP53 mutation • PTEN mutation • RB1 mutation • RB1 mutation + TP53 mutation
    over2years
    Characteristics and prognosis of EGFR mutations in small cell lung cancer patients in the NGS era. (PubMed, Clin Transl Oncol)
    EGFR-mutated SCLCs occurred more frequently in non-smoking females and were linked to prolonged survival, implying a positive prognostic impact. These SCLCs shared immunohistochemical similarities with conventional SCLCs, and both types had prevalent RB1 and TP53 mutations.
    Journal • Next-generation sequencing
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)
    |
    TP53 mutation • EGFR mutation • RB1 mutation + TP53 mutation
    over2years
    Mutational-Copy Number Variation Profile and Immunotherapy Drivers in Neuroendocrine Lung Carcinomas: PD-L1, Microsatellite Instability, DNA Mismatch Repair Genes Expression and Tumor Mutational Burden in a Series of 30 Cases (AMP Europe 2023)
    In this series of lung neuroendocrine carcinomas, TP53 and RB1 mutations were the most prevalent. No tumors showed H-MSI or dMMR. Only 3 expressed PD-L1.
    Clinical • Mismatch repair • Tumor mutational burden • Microsatellite instability • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PTEN (Phosphatase and tensin homolog) • STK11 (Serine/threonine kinase 11) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NOTCH1 (Notch 1) • MLH1 (MutL homolog 1) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2) • RICTOR (RPTOR Independent Companion Of MTOR Complex 2) • NKX2-1 (NK2 Homeobox 1) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor) • SYP (Synaptophysin) • HNF1A (HNF1 Homeobox A)
    |
    PD-L1 expression • TP53 mutation • MSI-H/dMMR • PTEN mutation • ARID1A mutation • STK11 mutation • RB1 mutation • MYCL amplification • RB1 mutation + TP53 mutation
    |
    Oncomine Tumor Mutation Load Assay
    over2years
    Epithelial-mesenchymal transition-related gene prognostic index and phenotyping clusters for hepatocellular carcinoma patients. (PubMed, Cancer Genet)
    Half-maximal inhibitory concentration (IC50) revealed that cluster C2 patients were more sensitive to chemotherapeutic and antiangiogenic agents. These findings may guide risk stratification and precision therapy for HCC patients.
    Journal • IO biomarker
    |
    TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • TGFB1 (Transforming Growth Factor Beta 1)
    |
    TP53 mutation • RB1 mutation • RB1 mutation + TP53 mutation