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|Gene Variant Descriptions||RB1 positive indicates the presence of the RB1 gene, mRNA, and/or protein.|
|Associated Drug Resistance|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|RB1 positive||Advanced Solid Tumor||predicted - sensitive||Ribociclib||Phase I||Actionable||In a Phase I clinical trial, Kisqali (ribociclib) demonstrated safety and preliminary efficacy in patients with RB1-positive solid tumors and lymphomas, resulting in partial responses in 2.3% (3/132) of patients and stable disease in 32.6% (41/132) of patients, including 8 patients demonstrating stable disease for greater than 6 months (PMID: 27542767, PMID: 24795392).||detail... 24795392 27542767|
|RB1 positive||medulloblastoma||sensitive||Palbociclib||Preclinical - Pdx||Actionable||In a preclinical study, Ibrance (palbociclib) inhibited Rb1 phosphorylation in tumor tissues and improved survival in patient-derived intracranial xenograft models of medulloblastoma (PMID: 27012813).||27012813|
|RB1 positive||glioblastoma multiforme||predicted - sensitive||Palbociclib||Preclinical - Cell line xenograft||Actionable||In a preclinical study, Ibrance (palbociclib) inhibited proliferation of RB1-proficient glioblastoma cell lines in culture and inhibited tumor growth in intracranial cell line xenograft models (PMID: 20354191).||20354191|
|RB1 positive||breast cancer||predicted - sensitive||Paclitaxel + Palbociclib||Phase I||Actionable||In a Phase I trial, alternating sequential treatment with Ibrance (palbociclib) and Taxol (paclitaxel) resulted in a median progression-free survival (mPFS) of 209 days in patients with Rb1-positive breast cancer, with a mPFS of 802 days and a clinical benefit rate of 55.6% (5/9) at the recommended phase II dose (PMID: 30635336; NCT01320592).||30635336|
|CDKN2A del RB1 pos||glioblastoma multiforme||predicted - sensitive||Ribociclib||Phase 0||Actionable||In a Phase 0 trial, Kisqali (ribociclib) demonstrated good CNS penetration and inhibited Rb1 phoaphorylation and tumor cell proliferation, resulted in a median progression-free survival of 9.7 week and an overall survival of 7.8 months in patients (n=6) with recurrent glioblastoma with intact Rb1 expression and harboring deletion of CDKN2A or amplification of CDK4 or CDK6 (PMID: 31285369; NCT02933736).||31285369|