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BIOMARKER:

RB1 mutation

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Other names: RB1, Retinoblastoma 1, RB Transcriptional Corepressor 1, Protein Phosphatase 1, Regulatory Subunit 130, Prepro-Retinoblastoma-Associated Protein, Retinoblastoma-Associated Protein, Retinoblastoma-Associated Protein, Retinoblastoma Suspectibility Protein
Entrez ID:
Related biomarkers:
3d
Firmonertinib for Adjuvant Therapy in Completely Resected Stage IA EGFR-Mutated NSCLC (ChiCTR2600121611)
P4, N=535, Recruiting, Peking Union Medical College Hospital; Peking Union Medical College Hospital
New P4 trial • Real-world evidence
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NTRK1 (Neurotrophic tyrosine kinase, receptor, type 1) • NTRK3 (Neurotrophic tyrosine kinase, receptor, type 3) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • RB1 (RB Transcriptional Corepressor 1) • FGFR (Fibroblast Growth Factor Receptor) • NRG1 (Neuregulin 1) • BRCA (Breast cancer early onset)
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TP53 mutation • BRAF V600E • KRAS mutation • KRAS G12C • BRAF V600 • HER-2 mutation • ALK positive • RET fusion • ALK fusion • FGFR mutation • RET mutation • ROS1 fusion • MET mutation • RB1 mutation • NRG1 fusion • KRAS G12 • BRCA mutation
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Ivesa (firmonertinib)
11d
A Study of 177Lu-DTPA-SC16.56 in People With Neuroendocrine Carcinomas of the Lung and Prostate (clinicaltrials.gov)
P1, N=12, Not yet recruiting, Memorial Sloan Kettering Cancer Center | Initiation date: Mar 2026 --> Jun 2026
Trial initiation date
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PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • DLL3 (Delta Like Canonical Notch Ligand 3)
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TP53 mutation • PTEN mutation • RB1 mutation • DLL3 expression
16d
POU2F3 in SCLC: Diagnostic Utility in Neuroendocrine Low/Negative SCLC and Discrimination From Other Thoracic Malignancies and Other Small Blue Round Cell Tumors. (PubMed, Lab Invest)
This study establishes POU2F3 as a critical diagnostic biomarker for neuroendocrine-low/negative SCLC, demonstrating high specificity in distinguishing SCLC-P from other thoracic malignancies and small blue round cell tumors. We delineate the distinct clinicopathological-genomic profile of POU2F3-driven SCLC (SCLC-P), providing a foundation for its diagnostic application. Further validation in expanded cohorts is warranted to confirm its clinical utility.
Journal
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TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NCAM1 (Neural cell adhesion molecule 1) • POU2F3 (POU Class 2 Homeobox 3) • SYP (Synaptophysin)
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TP53 mutation • PTEN mutation • RB1 mutation
24d
MYCN Amplification in RB1-Inactivated Retinoblastoma: Association With High-Risk Features. (PubMed, Pediatr Blood Cancer)
MYCN gain/amplification was identified in 7.2% of enucleated unilateral retinoblastomas, all of which showed RB1 inactivation. MYCN amplification was associated with more advanced disease and more aggressive clinical and histopathological features.
Journal
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RB1 (RB Transcriptional Corepressor 1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor)
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MYCN amplification • RB1 mutation
25d
Liquid Biopsy in Uterine Leiomyosarcoma: Current Biomarkers, Emerging Technologies, and Future Perspectives. (PubMed, Curr Oncol Rep)
Liquid biopsy holds promise for improving uLMS diagnosis and management. However, standardization and biomarker validation remain essential to achieve reliable clinical translation and enable earlier, more precise treatment strategies.
Review • Journal • Liquid biopsy
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • ATRX (ATRX Chromatin Remodeler)
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TP53 mutation • RB1 mutation
2ms
Pathological complete response following neoadjuvant chemoimmunotherapy in cancer of unknown primary: a case report. (PubMed, Transl Lung Cancer Res)
Based on multidisciplinary team (MDT) consensus, the patient underwent three cycles of neoadjuvant nivolumab plus albumin-bound paclitaxel and carboplatin. Neoadjuvant chemoimmunotherapy may provide clinical benefit in CUP with intrathoracic nodal metastasis, even without a confirmed primary tumor. Integration of MDT decision-making and MRD monitoring may provide valuable information to inform perioperative strategies and optimize patient prognosis.
Journal • PD(L)-1 Biomarker • IO biomarker
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • CEACAM5 (CEA Cell Adhesion Molecule 5)
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RB1 mutation
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Opdivo (nivolumab) • carboplatin • albumin-bound paclitaxel
2ms
Over-expression of Paternally Expressed Gene 10 (PEG10) Is Associated With Poor Prognosis in Upper Tract Urothelial Carcinomas. (PubMed, Anticancer Res)
Over-expression of PEG10 is associated with a poor prognosis in UTUC and may be linked to epithelial-mesenchymal transition. Furthermore, the over-expression of PEG10 may be related to the neuroendocrine subtype. PEG10 may be a biomarker of cancer progression in UTUC and represents a potential therapeutic target.
Journal
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1)
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TP53 mutation • RB1 mutation
2ms
Differential Response to 177Lu-PSMA-617 in Patients with Tumor Suppressor Gene-Mutated Metastatic Castration-Resistant Prostate Cancer. (PubMed, J Nucl Med)
TP53, PTEN, and RB1 mutations were linked to inferior overall survival in LuPSMA-treated patients and may serve as prognostic biomarkers. Prospective validation is required to establish their predictive value.
Journal • BRCA Biomarker
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TP53 (Tumor protein P53) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • PALB2 (Partner and localizer of BRCA2) • CHEK2 (Checkpoint kinase 2)
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TP53 mutation • PTEN mutation • PALB2 mutation • RB1 mutation • CHEK2 mutation
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Pluvicto (lutetium Lu 177 vipivotide tetraxetan)
3ms
Genomic heterogeneity and clinical implications in gastrointestinal neuroendocrine carcinoma: MYC and KRAS as predictive biomarkers. (PubMed, ESMO Gastrointest Oncol)
This study underscored the clinical and genomic heterogeneity of GI-NEC and highlighted the need to integrate genomic and clinical data to achieve personalized medicine. MYC amplification and KRAS alterations may serve as valuable predictors of treatment response and prognosis in patients with GI-NEC.
Journal
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • RB1 (RB Transcriptional Corepressor 1) • CCNE1 (Cyclin E1)
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RB1 mutation • KRAS amplification
3ms
Research status and prospects of molecular pathological mechanisms and novel therapeutic targets of osteosarcoma: a systematic review. (PubMed, Front Oncol)
Future directions require integrating AI-driven imaging omics, spatiotemporal multi-omics, and mechanically adaptive biomaterials to establish a precision management system. This will advance osteosarcoma therapy from survival prolongation toward functional cure-defined as complete tumour eradication with physiological reconstruction of bone structure/function (e.g., restoring load-bearing/joint mobility), while preventing treatment-related disability, ultimately achieving oncologic cure with preserved quality of life.
Review • Journal • IO biomarker
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TP53 (Tumor protein P53) • RB1 (RB Transcriptional Corepressor 1) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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TP53 mutation • RB1 mutation
3ms
The role of enucleation in the development of nystagmus in children with retinoblastoma. (PubMed, J AAPOS)
In our study cohort, nystagmus occurred in a minority of children, predominantly at presentation rather than as a consequence of enucleation, and was strongly associated with RB1 mutation and early disease onset. These findings provide reassurance for families that unilateral enucleation in infancy rarely induces nystagmus when the fellow eye is healthy.
Journal
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RB1 (RB Transcriptional Corepressor 1)
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RB1 mutation
3ms
RB1-I680T mutation potentiates tumor growth and chemotherapy sensitivity in non-small cell lung cancer via derepressing E2F1 transcription. (PubMed, Cell Commun Signal)
Our findings elucidate that the I680T mutation-induced loss-of-function of RB1 simultaneously confers invasive proliferation and chemotherapeutic vulnerability to tumor cells, suggesting that RB1-I680T could serve as a predictive biomarker for chemotherapy response in NSCLC. Stratifying patients based on the RB1-I680T mutation status may enable personalized therapeutic strategies, particularly for tumors with E2F1 dysregulation.
Journal
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RB1 (RB Transcriptional Corepressor 1) • E2F1 (E2F transcription factor 1)
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RB1 mutation