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Profile Name | RB1 loss |
Gene Variant Detail | |
Relevant Treatment Approaches | HDAC Inhibitor |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RB1 inact mut | retinoblastoma | sensitive | Fostamatinib | Preclinical | Actionable | In a preclinical study, retinoblastoma cell lines demonstrated sensitivity to Fostamatinib resulting in cell death (PMID: 22237022). | 22237022 |
RB1 inact mut | retinoblastoma | sensitive | BAY 61-3606 | Preclinical | Actionable | In a preclinical study, a retinoblastoma cell line was sensitive to BAY 61-3606 in cell culture and in xenograft models, demonstrating increased apoptosis (PMID: 22237022). | 22237022 |
RB1 inact mut | retinoblastoma | sensitive | Nutlin-3a | Preclinical | Actionable | In a preclinical study, Nutlin-3a induced p53 pathway signaling in MDMX mouse models with retinoblastoma and 69% (70/102) of the eyes harvested from the mouse models demonstrated complete response or stable disease after 18 weeks of therapy (PMID: 21515735). | 21515735 |
RB1 mutant | osteosarcoma | sensitive | VCN-01 | Preclinical - Cell line xenograft | Actionable | In a preclinical study, VCN-01 decreased viability of a human RB1-mutant primary osteosarcoma cell line in culture, and inhibited tumor growth and decreased lung metastases in xenograft models (PMID: 26603261). | 26603261 |
RB1 inact mut | glioblastoma | resistant | Palbociclib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Ibrance (palbociclib) failed to inhibit growth of RB1-deficient glioblastoma cell lines in culture and in intracranial cell line xenograft models (PMID: 20354191). | 20354191 |
RB1 mutant | estrogen-receptor positive breast cancer | predicted - resistant | Palbociclib | Phase III | Actionable | In a Phase III trial (PALOMA-3), acquired RB1 mutations were identified in patents with ER-positive, ERBB2 (HER2)-negative breast cancer at the end of treatment in the Faslodex (fulvestrant) plus Ibrance (palbociclib) but not the Faslodex (fulvestrant) plus placebo arm, suggesting a role in conferring resistance to Ibrance (palbociclib) (PMID: 30206110; NCT01942135). | 30206110 |