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BIOMARKER:

CDKN2A deletion

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Other names: CDKN2A, ARF, CDK4I, CDKN2, CMM2, INK4, INK4a, MLM, MTS1, p14, p14ARF, p16, p16INK4a, p19, p19Arf, Cyclin-dependent kinase inhibitor 2A
Entrez ID:
Related biomarkers:
18d
Segmental Copy Number Variant Detection Using an Amplicon-based NGS Panel for Integrated Glioma Classification. (PubMed, J Mol Diagn)
Across glioma subtypes, OCAv3 enabled integrated classification in most cases, particularly in oligodendroglioma and glioblastoma, by simultaneously assessing SVs and CNVs. Implementation in the prospective clinical cohort reduced required FISH studies by 90%, significantly shortened turnaround times, and decreased molecular testing costs.
Journal • Next-generation sequencing
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EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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EGFR amplification • CDKN2A deletion
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Oncomine™ Comprehensive Assay v3M
22d
On the Progression From Early-to Late-Stage Melanoma: A Potential Sequence of Molecular Events Using Data From Droplet Digital PCR and Array Comparative Genomic Hybridization, A Pilot Study. (PubMed, Am J Dermatopathol)
A parallel trend was observed for average CDKN2A copy number, which decreased progressively with increasing CNV burden: from 2.02 in CNV-negative melanomas to 1.33 in melanomas with isolated CDKN2A loss; 1.15 in melanomas with CDKN2A loss and MYC gain; and 0.53 in melanomas with CDKN2A loss and MYB loss (F = 12.01, P < 0.001). These findings support a potential model of stepwise CNV accumulation in melanoma: early RREB1 gain and/or CDKN2A loss, followed by MYC gain, and ultimately MYB loss.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RREB1 (Ras Responsive Element Binding Protein 1)
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CDKN2A deletion
1m
Clinicogenomic analysis of EGFR-mutant lung tumors identifies Rb pathway inactivation as a hallmark of squamous transformation. (PubMed, Sci Transl Med)
Patients with EGFR-mutant LUSC or LUAS had shorter overall survival on first-line osimertinib compared with those with EGFR-mutant LUAD...Combined EGFR and MET inhibition suppressed tumor growth in patient-derived xenograft models of LUSC transformation. Together, these findings highlight Rb pathway inactivation as a promoter of LUSC transformation in EGFR-mutant lung cancer and identify MET signaling as a therapeutic vulnerability that may suppress plasticity in this setting and extend response to targeted therapy.
Journal
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EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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EGFR mutation • EGFR wild-type • CDKN2A deletion • MET mutation
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Tagrisso (osimertinib)
1m
A072301: Testing Addition of an Anti-cancer Drug, Vorasidenib to Temozolomide, After Radiation for Advanced Brain Cancer (clinicaltrials.gov)
P3, N=408, Recruiting, Alliance for Clinical Trials in Oncology | Not yet recruiting --> Recruiting | Initiation date: Oct 2025 --> Jul 2026
Enrollment open • Trial initiation date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CYP1A2 (Cytochrome P450, family 1, subfamily A, polypeptide 2)
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CDKN2A deletion • IDH1 R132
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temozolomide • Voranigo (vorasidenib)
1m
Recurrent IDH-mutant astrocytoma WHO grade 4 diagnosed during pregnancy: case report with literature review. (PubMed, Front Oncol)
Timely neurosurgical intervention, multidisciplinary care, and integrated obstetric-neurosurgical strategies are crucial. There is a pressing need for clinical guidelines addressing high-grade glioma management in pregnancy, particularly in the era of molecular tumor classification.
Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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IDH1 mutation • CDKN2A deletion
1m
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype, of the adult cerebellum: a report of 2 cases. (PubMed, Brain Tumor Pathol)
These findings suggest that a subset of morphologically defined cerebellar glioblastomas in adults represents the dpHGG, H3-/IDH-WT, RTK1 subtype. Recognition of this underappreciated manifestation is important for accurate tumor classification, and further accumulation of well-characterized cases is required to clarify its clinical significance.
Journal
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EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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EGFR amplification • CDKN2A deletion • IDH wild-type
1m
Stratification by Ki-67 Labeling Index Increases Specificity of p16INK4a Expression as a Surrogate Marker for CDKN2A Inactivation in Meningioma. (PubMed, Mod Pathol)
Using Ki-67 as a surrogate marker for tumor aggressiveness, we identified a threshold of 5% in tumors with low p16 expression as a sensitivity cutoff for predicting CDKN2A inactivation, suggesting the subset of meningiomas with a higher labeling index could benefit from further molecular validation while the subset with p16hi expression are low yield to profile for CDKN2A status. Our findings support the clinical utility of Ki-67 and p16 expression as cost-effective screening tools to flag potentially aggressive meningiomas, particularly in resource-constrained settings.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
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CDKN2A deletion
1m
Clinicogenomic Landscape of Histologic Subtypes in Ovarian Cancer: Real-World Evidence From a Japanese Nationwide Cohort. (PubMed, JCO Precis Oncol)
This large clinicogenomic study in an Asian population highlights unique mutational landscapes and survival associations, which may inform personalized treatment strategies.
Retrospective data • Journal • HEOR • Real-world evidence • BRCA Biomarker
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • KEAP1 (Kelch Like ECH Associated Protein 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NFE2L2 (Nuclear Factor, Erythroid 2 Like 2)
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TP53 mutation • KRAS mutation • BRCA2 mutation • PIK3CA mutation • ARID1A mutation • CDKN2A deletion • KEAP1 mutation • NFE2L2 mutation
1m
Peri-Implant Gingival Undifferentiated SWI/SNF Complex-Deficient Tumor with Molecularly Confirmed Biallelic SMARCA4 Inactivation: Diagnostic Pitfalls and Genomic Characterization. (PubMed, Diagnostics (Basel))
The patient initiated carboplatin-paclitaxel and achieved a partial response at one month with further shrinkage by four months. Rapidly enlarging peri-implant gingival masses should prompt timely biopsy and SWI/SNF marker testing when histology is high-grade and lineage-ambiguous. NGS-based molecular profiling confirms diagnosis, elucidates mechanism, and reveals actionable targets in this rare tumor class.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KEAP1 (Kelch Like ECH Associated Protein 1) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MAT2A (Methionine Adenosyltransferase 2A)
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TP53 mutation • TMB-H • CDKN2A deletion • MTAP deletion • KEAP1 mutation
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Oncomine™ Comprehensive Assay Plus
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carboplatin • paclitaxel
1m
Integrated Molecular and Clinical Analysis of Thymic Epithelial Tumors. (PubMed, JCO Precis Oncol)
Integrated profiling of TETs reveals distinct genomic, transcriptomic, and immune features across subtypes of TETs and identifies potentially actionable therapeutic targets that may inform future treatment strategies.
Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • MTAP (Methylthioadenosine Phosphorylase) • MSLN (Mesothelin) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • NECTIN4 (Nectin Cell Adhesion Molecule 4) • TACSTD2 (Tumor Associated Calcium Signal Transducer 2)
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PD-L1 expression • TP53 mutation • TMB-H • MSI-H/dMMR • PD-L1 overexpression • HER-2 overexpression • EGFR expression • TMB-L • CDKN2A deletion
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MI Tumor Seek™
1m
Optimal clinicogenetic criteria for post-operative re-irradiation in recurrent glioblastoma: KROG 21-02. (PubMed, ESMO Open)
Post-operative re-RT appears to be associated with enhanced survival and minimal toxicity in patients with rGBM following temozolomide chemoradiation. Our study suggests a novel clinicogenetic criterion for re-RT after re-OP in rGBM, which requires further validation.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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CDKN2A deletion • IDH wild-type
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temozolomide
1m
Cytogenomic landscape of adult Philadelphia chromosome-positive acute lymphoblastic leukemia in Malaysia. (PubMed, Cancer Genet)
Adult Ph+ ALL in this multi-ethnic cohort exhibited marked genomic heterogeneity, with frequent submicroscopic alterations detectable only through integrated genomic profiling. Comprehensive genomic characterization is needed to better understand leukemogenesis and refine risk stratification.
Journal
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ABL1 (ABL proto-oncogene 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PAX5 (Paired Box 5) • VPREB1 (V-Set Pre-B Cell Surrogate Light Chain 1)
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CDKN2A deletion