Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Profile Name | RB1 positive |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CDKN2A del RB1 pos | glioblastoma | predicted - sensitive | Ribociclib | Phase 0 | Actionable | In a Phase 0 trial, Kisqali (ribociclib) demonstrated good CNS penetration and inhibited Rb1 phosphorylation and tumor cell proliferation, resulted in a median progression-free survival of 9.7 weeks and a median 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 |
BRAF V600E/K CDKN2A loss RB1 pos | melanoma | predicted - sensitive | Palbociclib + Vemurafenib | Phase Ib/II | Actionable | In a phase I/II trial, Ibrance (palbociclib) plus Zelboraf (vemurafenib) was safe and resulted in an overall response rate (ORR) of 26.7% (4/15), disease control rate (DCR) of 80% (12/15), and progression-free survival (PFS) of 2.8 mo in metastatic melanoma patients with prior BRAF inhibitor treatment and BRAF V600E/K, CDKN2A loss, and RB1 expression, and an ORR of 27.8% (5/18), DCR of 83.3% (10/18) and 2.8 mo PFS when combined with pts without prior BRAF inhibitor treatment (PMID: 33947696; NCT02202200). | 33947696 |
BRAF V600E CDKN2A loss CHEK2 dec exp RB1 pos | melanoma | predicted - resistant | Palbociclib + Vemurafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Ibrance (palbociclib) and Zelboraf (vemurafenib) combination therapy in a melanoma cell line harboring BRAF V600E, CDKN2A loss, RB1 expression, and decreased expression of CHEK2 via siRNA resulted in increased cell proliferation and p-ERK levels compared to treated cells without decreased expression of CHEK2 in culture (PMID: 33947696). | 33947696 |