Molecular Profile Detail

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Profile Name CDKN2A del
Gene Variant Detail

CDKN2A del (loss of function)

Relevant Treatment Approaches CDK Inhibitor (Pan) CDK4 Inhibitor CDK4/6 Inhibitor CDK6 Inhibitor

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Molecular Profile Indication/Tumor Type Response Type Relevant Treatment Approaches Therapy Name Approval Status Evidence Type Efficacy Evidence References
CDKN2A del 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 were no significant differences in OS (PMID: 34074656). 34074656
CDKN2A del 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
CDKN2A del gastrointestinal stromal tumor no benefit CDK4/6 Inhibitor Palbociclib Phase II Actionable In a Phase II trial, Ibrance (palbociclib) treatment did not demonstrated clinical efficacy in heavily pre-treated gastrointestinal stromal tumor patients harboring CDKN2A homozygous or heterozygous deletion, with 86.4% (19/22) of patients demonstrated progressive disease at 4 months (PMID: 30979737; NCT01907607). 30979737
CDKN2A del 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 del 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 del 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 CDKN2A (13 months vs 50 months, P=0.002)(PMID: 34074656). 34074656
CDKN2A del glioblastoma sensitive CDK4/6 Inhibitor Palbociclib Preclinical - Pdx & cell culture Actionable In a preclinical study, Ibrance (palbociclib) inhibited proliferation of patient-derived glioblastoma cells harboring homozygous deletion of CDKN2A in culture and prolonged survival in patient-derived xenograft models (PMID: 22711607). 22711607
CDKN2A del lung cancer predicted - sensitive PF-00477736 + PF3644022 Preclinical - Cell line xenograft Actionable In a preclinical study, Chk1 inhibitor PF-477736 and MK2 inhibitor PF3644022 synergistically inhibited tumor growth in cell line xenograft models of CDKN2A-deleted lung cancer (PMID: 26140595). 26140595
CDKN2A del 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
Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04118036 Phase II Abemaciclib + Pembrolizumab Abemaciclib + Pembrolizumab In Glioblastoma Withdrawn USA 0
NCT02981940 Phase II Abemaciclib A Study of Abemaciclib in Recurrent Glioblastoma Recruiting USA 0
NCT02540876 Phase I ABT-348 Ilorasertib in Treating Patients With CDKN2A-deficient Advanced or Metastatic Solid Cancers That Cannot Be Removed by Surgery Completed USA 0
NCT04074785 Phase I Abemaciclib + Bevacizumab Pilot Study of Abemaciclib With Bevacizumab in Recurrent Glioblastoma Patients With Loss of CDKN2A/B or Gain or Amplification of CDK4/6 Active, not recruiting USA 0
NCT02478320 Phase II ABT-348 Phase II Study of Ilorasertib (ABT348) in Patients With CDKN2A Deficient Solid Tumors Completed USA 0
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 | FRA | ESP | CAN 1
NCT03435250 Phase I AG-270 + Docetaxel AG-270 + Gemcitabine + Nab-paclitaxel AG-270 Study of AG-270 in Participants With Advanced Solid Tumors or Lymphoma With MTAP Loss Active, not recruiting USA | FRA | ESP 0
NCT03356223 Phase II Abemaciclib Evaluation of ABEMACICLIB Monotherapy in Patients With Locally Advanced/Metastatic Head and Neck Cancer After Failure of Platinum and Cetuximab or Anti-EGFR-based Therapy and Harboring an Homozygous Deletion of CDKN2A, and/or an Amplification of CCND1 and/or of CDK6 (ABORL) Recruiting FRA 0
NCT03994796 Phase II Abemaciclib GDC-0084 Entrectinib Genetic Testing in Guiding Treatment for Patients With Brain Metastases Recruiting USA 0
NCT04116541 Phase II Alectinib Cabozantinib Ribociclib + Siremadlin A Study Evaluating the Activity of Anti-cancer Treatments Targeting Tumor Molecular Alterations/Characteristics in Advanced / Metastatic Tumors. (MegaMOST) Recruiting FRA 0
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 Recruiting USA 0