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GENE:

CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)

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Other names: CDKN2A, Cyclin Dependent Kinase Inhibitor 2A, P14ARF, CDK4I, MTS1, ARF, P16-INK4A, CDKN2, CMM2, INK4, P16, P19, P14, MLM, Cyclin-Dependent Kinase Inhibitor 2A (Melanoma, P16, Inhibits CDK4), Cyclin-Dependent Kinase 4 Inhibitor A, Cyclin-Dependent Kinase Inhibitor 2A, Multiple Tumor Suppressor 1, Alternative Reading Frame, P16INK4a, P16INK4A, P19Arf, INK4a, MTS-1, Cell Cycle Negative Regulator Beta, CDK4 Inhibitor P16-INK4, Tumor Suppressor ARF, P16-INK4a, P16-INK4, P16INK4, P19ARF, INK4A, TP16
2d
The Potential Role of p16 in the Regulation of Endometrial Reproductive Function. (PubMed, Biol Reprod)
Collectively, these observations raise the possibility that p16 acts not only as a senescence marker but also as a dynamic regulatory factor in the endometrium. Further mechanistic and clinical studies are needed to validate this proposed framework.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
2d
Immunohistochemical and molecular profiling of uveal melanoma: clinicopathological correlations from an Italian cohort. (PubMed, Pathologica)
This study highlights the heterogeneous molecular landscape of UM and underscores the importance of integrating histopathological and molecular data for improved prognostic stratification. The identification of potential therapeutic targets and atypical mutations typically associated with other melanoma subtypes suggests avenues for future research and tailored therapeutic strategies.
Retrospective data • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • BRAF (B-raf proto-oncogene) • ER (Estrogen receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • GNAQ (G Protein Subunit Alpha Q) • KDR (Kinase insert domain receptor) • BAP1 (BRCA1 Associated Protein 1) • GNA11 (G Protein Subunit Alpha 11) • JAK3 (Janus Kinase 3) • H3-3A (H3.3 Histone A)
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PD-L1 expression • TP53 mutation • TMB-H • BRAF mutation • PTEN mutation
2d
Distinction of thymic carcinoma and type B3 thymoma using ancillary biomarkers. (PubMed, Pathologica)
CD5 and CD117 are the best markers for TC. While the addition of other markers (i.e., BAP1 loss, MTAP loss and CDKN2A deletion) might be useful in cases negative for CD5 and CD117, rare cases of type B3 thymoma might harbor these alterations.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • CD5 (CD5 Molecule)
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CDKN2A deletion • KIT expression
2d
Primary Pulmonary NUT Carcinoma: A Case Illustration of Therapeutic Challenges and Review of Emerging Targeted Therapies. (PubMed, Case Rep Oncol Med)
Common first-line treatments include platinum-based regimens in combination with etoposide or paclitaxel. Several clinical trials of BET and histone deacetylase inhibitors are active, and clinicians are encouraged to enroll patients to maximize survival outcomes.
Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
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paclitaxel • etoposide IV
2d
Genomic Alteration Patterns Across Histological Grades in BRAF p.V600E-Mutant Gliomas and Glioneuronal Tumors: An Analysis of 15 Cases. (PubMed, Pathol Int)
These findings indicate substantial genomic heterogeneity among BRAF p.V600E-mutant gliomas and glioneuronal tumors. While low-grade tumors are generally genomically quiet, a subset shows increased alterations, and high-grade tumors tend to acquire copy-number changes, highlighting the limitations of genomic event counts alone as a surrogate for malignant potential.
Journal
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BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
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BRAF V600E • BRAF V600 • CDKN2A deletion
2d
Mucosal melanoma: clinicopathological, molecular and prognostic features in a retrospective cohort. (PubMed, Virchows Arch)
NRAS was the most frequent mutation, followed by ARID1A, CDK4, CDKN2A, JAK2 and MYC, without a significant association with survival. These results emphasise the prognostic value of mitotic index and surgical completeness, while confirming the marked molecular heterogeneity of mucosal melanoma and the lack of a single dominant actionable alteration.
Retrospective data • Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ARID1A (AT-rich interaction domain 1A) • JAK2 (Janus kinase 2) • CDK4 (Cyclin-dependent kinase 4)
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ARID1A mutation
2d
Molecular characteristics and clinical outcomes of gastroesophageal cancer diagnosed at age <50 years. (PubMed, JNCI Cancer Spectr)
Unique molecular and germline profiles were seen in GEC < 50, which may suggest differences in causal factors yet undiscovered.
Clinical data • Journal • Tumor mutational burden • MSi-H Biomarker • PD(L)-1 Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDH1 (Cadherin 1)
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TP53 mutation • TMB-H • MSI-H/dMMR • HER-2 amplification
2d
Prognostic value of the tumor immune microenvironment, PD-L1 and p16INK4A in penile squamous cell carcinoma. (PubMed, Virchows Arch)
Taken together, this study demonstrates the prognostic value of the TIME using the three widely available markers CD3, CD8, and PD-L1 in PSCC. Furthermore, it provides additional evidence for a survival benefit of p16INK4A positive cases, compared to p16INK4A negative cases.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8)
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PD-L1 expression • PD-L1 underexpression
2d
Integrative molecular diagnostics for HPV-driven cervical carcinogenesis: a translational review of mechanisms and multimodal risk stratification. (PubMed, Front Oncol)
This review proposes a structured, integrative model for cervical cancer risk assessment, offering a tiered, context-appropriate strategy that correlates diagnostic modalities with stages of HPV-mediated transformation. This framework aims to enhance clinical precision, prioritize high-risk individuals, and reduce overtreatment.
Review • Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
3d
Adenocarcinoma of Mammary Gland Type of the Vulva. (PubMed, Int J Surg Pathol)
Given the rarity of the tumor, it is crucial to distinguish it from morphological mimics to inform appropriate patient management. Treatment approaches are typically based on protocols for primary breast cancer, given the histological and biological similarities between these tumors and breast tissue.
Journal
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HER-2 (Human epidermal growth factor receptor 2) • ER (Estrogen receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PGR (Progesterone receptor) • AR (Androgen receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDK4 (Cyclin-dependent kinase 4) • KRT7 (Keratin-7) • TP63 (Tumor protein 63) • GATA3 (GATA binding protein 3) • TRPS1 (Transcriptional Repressor GATA Binding 1)
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HER-2 amplification • TP53 Y220C
5d
Characteristics of p53 and Smad4 immunohistochemistry in pancreatic ductal adenocarcinoma and validation by next-generation sequencing. (PubMed, Histol Histopathol)
Our study highlights the complementary diagnostic value of p53 and Smad4 IHC relative to molecular testing in PDAC, especially when tissue is limited, as commonly encountered in FNB specimens. The newly established Smad4 IHC classification system, which integrates an intermediate expression category into the conventional two-tier framework, demonstrates superior clinical utility and enhances predictive accuracy for SMAD4 genomic alterations.
Journal • Next-generation sequencing • IO Complimentary diagnostic
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • SMAD4 (SMAD family member 4)
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TP53 mutation • KRAS mutation