Molecular Profile Detail

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Profile Name CDKN2A inact mut
Gene Variant Detail

CDKN2A inact mut (loss of function)

Relevant Treatment Approaches

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A inact mut bladder urothelial carcinoma decreased response unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, treatment with an immune checkpoint inhibitor resulted in a decreased response in urothelial carcinoma patients with either homozygous deletion of CDKN2A or loss of function CDKN2A mutations compared to those patients with wild-type CDKN2A in two different cohorts, with an overall survival for each cohort of 8.8 and 11 mo. versus 25.2 and 19 mo, respectively, and time to treatment failure of 4.2 mo. versus 8.4 mo., respectively, in one cohort (PMID: 34074656). 34074656
CDKN2A inact mut renal cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in one cohort of renal cell carcinoma patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors, but in another cohort were significantly associated with reduced overall survival compared to wild-type CDNK2A (13 months vs 50 months, P=0.002)(PMID: 34074656). 34074656
CDKN2A inact mut lung non-small cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in two cohorts of non-small cell lung cancer patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors (PMID: 34074656). 34074656
CDKN2A inact mut melanoma decreased response unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, treatment with an immune checkpoint inhibitor resulted in a decreased response in melanoma patients with homozygous deletion of CDKN2A or loss of function CDKN2A mutations compared to patients with wild-type CDKN2A in one cohort, with a lower overall survival (OS) of 27.2 mo vs not yet reached and time to treatment failure of 10 vs 20.1 mo, respectively, but in a second cohort, there was no significant differences in OS (PMID: 34074656). 34074656
CDKN2A inact mut gastroesophageal cancer not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in one cohort of esophagogastric cancer patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors, but in another cohort were significantly associated with reduced overall survival compared to wild-type CDKN2A (8 months vs 17 months, P=0.006) (PMID: 34074656). 34074656
CDKN2A inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, homozygous deletion of CDKN2A or loss of function CDKN2A mutations in two cohorts of head and neck squamous cell carcinoma patients were not predictive of overall survival or time to treatment failure when treated with immune checkpoint inhibitors (PMID: 34074656). 34074656
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT02546661 Phase I AZD9150 + Durvalumab Durvalumab + Selumetinib AZD4547 Durvalumab + Olaparib Durvalumab AZD4547 + Durvalumab Durvalumab + Vistusertib Adavosertib + Durvalumab Open-Label, Randomised, Multi-Drug, Biomarker-Directed, Phase 1b Study in Pts w/ Muscle Invasive Bladder Cancer (BISCAY) Active, not recruiting USA | CAN 3
NCT04966481 Phase III Cetuximab + Palbociclib Cetuximab Palbociclib and Cetuximab Versus Cetuximab Monotherapy for Patients With CDKN2A-altered, HPV-unrelated Head and Neck Squamous Cell Carcinoma Who Experienced Disease Progression on a PD-1/L1 Inhibitor Not yet recruiting USA 0