^
    4d
    Molecular profile of adult primary leptomeningeal gliomatosis aligns with glioblastoma, IDH-wildtype. (PubMed, Brain Pathol)
    Only one case, with relatively localized disease at diagnosis, received chemoradiation therapy and survived 535 days, raising the possibility that early diagnosis and timely treatment could improve outcome. A detailed list of previously reported cases is provided in a supplementary table.
    Journal
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • GLI1 (GLI Family Zinc Finger 1)
    |
    TP53 mutation • PTEN mutation • CDKN2A deletion • CDK4 amplification • TERT mutation • TERT promoter mutation
    4d
    Genomic characterization and histologic analysis of uterine leiomyosarcoma arising from leiomyoma with bizarre nuclei. (PubMed, J Pathol)
    © 2024 The Author(s). The Journal of Pathology published by John Wiley & Sons Ltd on behalf of The Pathological Society of Great Britain and Ireland
    Journal
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    PTEN mutation • CDKN2A deletion
    6d
    Clinical characteristics and prognostic analysis of CDKN2A/2B gene in pediatric acute lymphoblastic leukemia: a retrospective case-control study. (PubMed, Hematology)
    In conclusion, while ALL that does have CDKN2A/2B gene deletions is associated with certain clinical characteristics and genetic aberrations, they did not significantly impact OS or EFS. Furthermore, subgroup analysis revealed a potential prognostic role of ALL that does have CDKN2A/2B deletions presenting with hepatosplenomegaly on palpation, emphasizing the importance of comprehensive risk stratification in treatment decision-making for this subgroup.
    Retrospective data • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RUNX1 (RUNX Family Transcription Factor 1) • ETV6 (ETS Variant Transcription Factor 6) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    10d
    ERBB2/ERBB3-mutated S100/SOX10-positive uterine sarcoma: something new. (PubMed, Virchows Arch)
    The authors review the sparse literature on molecular-genetic aberrations involving the epidermal growth factor receptor family of receptor tyrosine kinases (ERBB1/EGFR, ERBB2, ERBB3, and ERBB4) in uterine mesenchymal tumors, a review that suggests that such tumors may be pathologically heterogeneous. The potential clinical significance of demonstrating a targetable ERBB2/ERBB3 tyrosine kinase mutation or other EGFR family aberrations, as well as its distinctive pathologic profile, supports the segregation of the tumor reported herein as a distinct and emerging entity.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ALK (Anaplastic lymphoma kinase) • PGR (Progesterone receptor) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ERBB3 (V-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3) • NF1 (Neurofibromin 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • ATRX (ATRX Chromatin Remodeler) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • CD34 (CD34 molecule) • NCAM1 (Neural cell adhesion molecule 1) • SOX10 (SRY-Box 10) • CD68 (CD68 Molecule) • MME (Membrane Metalloendopeptidase) • PRAME (Preferentially Expressed Antigen In Melanoma) • MLANA (Melan-A) • NTRK (Neurotrophic receptor tyrosine kinase) • PDGFB (Platelet Derived Growth Factor Subunit B) • STAT6 (Signal transducer and activator of transcription 6) • MITF (Melanocyte Inducing Transcription Factor)
    |
    EGFR mutation • HER-2 mutation • CDKN2A deletion • ATRX mutation • ERBB3 mutation • NF1 deletion
    11d
    BISCAY: Open-Label, Randomised, Multi-Drug, Biomarker-Directed, Phase 1b Study in Pts w/ Muscle Invasive Bladder Cancer (clinicaltrials.gov)
    P1, N=117, Active, not recruiting, AstraZeneca | Trial completion date: Jun 2024 --> Mar 2025
    Trial completion date
    |
    HRD (Homologous Recombination Deficiency) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • FGFR (Fibroblast Growth Factor Receptor) • CD8 (cluster of differentiation 8) • CCNE1 (Cyclin E1) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • IFNG (Interferon, gamma) • IL6 (Interleukin 6) • IL2 (Interleukin 2) • IL10 (Interleukin 10) • MYCL (MYCL Proto-Oncogene BHLH Transcription Factor)
    |
    PD-L1 expression • FGFR3 mutation • CDKN2A deletion • CCNE1 amplification • CDKN2A mutation • FGFR fusion • RB1 deletion • MYCL amplification
    |
    Lynparza (olaparib) • Imfinzi (durvalumab) • Koselugo (selumetinib) • adavosertib (AZD1775) • fexagratinib (ABSK091) • vistusertib (AZD2014) • danvatirsen (AZD9150)
    11d
    Early progressive disease within 2 years in isocitrate dehydrogenase (IDH)-mutant astrocytoma may indicate radiation necrosis. (PubMed, Jpn J Clin Oncol)
    Radiation necrosis should be considered in cases showing early progression of isocitrate dehydrogenase-mutant astrocytoma, and a second surgery should be performed to confirm true recurrence or radiation necrosis. Astrocytomas with telomerase reverse-transcriptase promoter mutations may relapse relatively early and should be followed up with caution.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    21d
    CDKN2A/B deletion as an independent negative prognostic factor for allogeneic hematopoietic stem cell transplantation in childhood B cell precursor acute lymphoblastic leukemia. (PubMed, Leuk Lymphoma)
    No abstract available
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    23d
    Establishment of a novel benign meningioma cell line spontaneously immortalized under hypoxic conditions. (PubMed, Hum Cell)
    Cultured under hypoxic conditions, this cell line showed fewer characteristics of cellular senescence, such as morphological changes, IL-6 secretion, and lower senescence-associated b-galactosidase activity, compared to the same cell line cultured under 20% O2 conditions. This immortalized non-transgenic cell line appears to reflect the characteristics of a genuine benign meningioma, potentially allowing the identification of new therapeutic targets and the development of novel therapies for benign meningiomas.
    Preclinical • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • IL6 (Interleukin 6) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion • TERT mutation
    25d
    Homozygous CDKN2A/B deletions in low- and high-grade glioma: a meta-analysis of individual patient data and predictive values of p16 immunohistochemistry testing. (PubMed, Acta Neuropathol Commun)
    Sensitivity of p16 staining for CDKN2A/B detection was 79.0%, specificity 80.1%. Highest diagnostic accuracy of p16 IHC was reached with a cut-off of > 5% and within IDH-mut glioma.
    Clinical • Retrospective data • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    26d
    Novel Fibroblast Growth Factor Receptor 3-Fatty Acid Synthase Gene Fusion in Recurrent Epithelioid Glioblastoma Linked to Aggressive Clinical Progression. (PubMed, Curr Oncol)
    Postoperative treatment included radiotherapy and temozolomide...The recurrence was managed with regorafenib and bevacizumab, though complications like hand-foot syndrome and radiation necrosis arose...The novel FGFR3-FASN fusion suggests potential implications for GBM recurrence and lipid metabolism. Further studies are warranted to explore FGFR3-FASN's role in GBM and its therapeutic targeting.
    Journal
    |
    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FASN (Fatty acid synthase)
    |
    IDH2 mutation • PTEN deletion • PTEN mutation • CDKN2A deletion • CDKN2A mutation • TERT mutation • TERT promoter mutation
    |
    Avastin (bevacizumab) • temozolomide • Stivarga (regorafenib)
    29d
    Patient-derived glioma organoids real time identification of IDH mutation, 1p/19q-codeletion and CDKN2A/B homozygous deletion with differential ion mobility spectrometry. (PubMed, J Neurooncol)
    DMS suitability to differentiate IDH-mutated PGOs was thus validated in ex vivo cultured samples, PGOs. Preliminary results regarding 1p/19q codeleted PGOs and CDKN2A/B loss PGOs identification endorse testing in a prospective intraoperative glioma patient cohort. Our results reveal a sample classification set-up that is compatible with real-time intraoperative surgery guidance.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    1m
    Olıgosarcoma: A Rare Case Report Wıth Dıstınct Features. (PubMed, Int J Surg Pathol)
    In our patient, the sarcomatous component exhibited p53 and OLIG2 immunohistochemical expression. Molecular analysis revealed IDH and TERT mutations, as well as 1p/19q and CDKN2A deletions.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    CDKN2A deletion • TERT mutation
    1m
    Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses. (PubMed, Neuro Oncol)
    Glioblastoma undergoes heterogeneous genetic, epigenetic, and cellular evolution that underlies prognostically different treatment responses.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase)
    |
    CDKN2A deletion • CDKN2A mutation • TERT mutation • IDH wild-type • TERT promoter mutation
    |
    temozolomide
    1m
    A patient-derived xenograft mouse platform from epithelioid glioblastoma provides possible druggable screening and translational study. (PubMed, Am J Cancer Res)
    By using the novel PDX platform, the results presented in this study demonstrate that the treatments with Palbociclib or Dabrafenib/Trametinib significantly reduced tumor size. In conclusion, PDX models offer a deeper understanding of eGBM at the genomic level and facilitate the identification of potential therapeutic targets. Further translational studies of this novel PDX model hold promise for advancing the diagnosis and treatment of this specific subtype of glioblastoma.
    Preclinical • Journal
    |
    BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    BRAF V600E • BRAF V600 • CDKN2A deletion • CDKN2A mutation • CDKN2A mutation + BRAF V600E
    |
    Mekinist (trametinib) • Ibrance (palbociclib) • Tafinlar (dabrafenib)
    1m
    A meta-analysis of the prognostic significance of CDKN deletions in acute lymphoblastic leukaemia. (PubMed, Ann Med)
    The subgroup analysis based on the CDKN2A, CDKN2A/b and different ALL subtypes further strengthen the validity of the findings. Our meta-analysis revealed that CDKN gene deletions (including CDKN 2A/B, CDKN 2A) serve as adverse prognostic indicators for T-ALL/B-ALL patients.
    Clinical • Retrospective data • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    1m
    The prognostic impact of CDKN2A/B hemizygous deletions in IDH-mutant glioma. (PubMed, Neuro Oncol)
    Hemizygous CDKN2A/B deletions do not significantly worsen OS or PFS in IDH-mutant astrocytomas and oligodendrogliomas, CNS WHO grade 2 and 3.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion • CDKN2A mutation
    1m
    Segmental CNV Detection with Oncomine Comprehensive Assay v3: Combined SNV and CNV Detection for Improved Glioma Diagnostics (AMP 2024)
    Segmental CNV detection is feasible with the OCAv3 platform. Identified thresholds resulted in 100% sensitivity and specificity, although 20% to 30% of CDKN2A and +7/-10 cases require FISH reflex. If validated, this solution affords an efficient strategy in terms of hands-on-time, cost, and tissue use for combined SNV and CNV detection, particularly in a resource-constrained setting.
    EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    EGFR amplification • CDKN2A deletion
    |
    Oncomine™ Comprehensive Assay v3M
    2ms
    Detection of CDKN2A/B homozygous deletion by DNA methylation and DNA next generation sequencing: a comparison (SNO 2024)
    All cases of homozygous deletion detected by NGS were also detected by DNA methylation. DNA methylation derived copy number assessment is more sensitive for CDKN2A/B homozygous deletion than next generation sequencing.
    Next-generation sequencing • Epigenetic controller
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    |
    NYU Langone Genome PACT assay
    2ms
    CDKN2A homozygous deletion has stronger prognostic power than IDH mutation in CNS WHO grade 4 Gliomas. (SNO 2024)
    The presenting study suggest that CDKN2A deletion should play a powerful prognostic role in CNS WHO grade 4 gliomas as well as low grade glioma. Even if CNS WHO grade 4 gliomas had mutant IDH, they can have poor clinical outcome due to CDKN2A deletion.
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    CDKN2A deletion • CDKN2A mutation • IDH wild-type
    |
    OncoaccuPanel™
    2ms
    Comprehensive Genomic Profiling (CGP) of Acute Lymphoblastic Leukemias with Foundation One Heme Identifies Actionable Genomic Alterations and Biomarkers (ASH 2024)
    Conclusions : This analysis of 2,637 samples comprising a variety of molecular subtypes of ALL demonstrated that the F1H assay detects pathogenic genomic alterations with diagnostic, prognostic, and therapeutic significance. As both the treatment landscape and disease classification system in ALL have continued to evolve over time, CGP assays such as F1H can play a critical role in clinical decision making by simultaneously assessing the presence and absence of numerous actionable genomic alterations and biomarkers with a single assay.
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PAX5 (Paired Box 5) • TCF3 (Transcription Factor 3) • P2RY8 (P2Y Receptor Family Member 8) • PBX1 (PBX Homeobox 1) • ABL2 (ABL Proto-Oncogene 2, Non-Receptor Tyrosine Kinase)
    |
    TP53 mutation • KRAS mutation • NRAS mutation • PTEN mutation • CDKN2A deletion
    |
    FoundationOne® Heme CDx
    2ms
    CD19-CAR T Cells As Definitive Consolidation for Older Adults with B-Cell Acute Lymphoblastic Leukemia in First Complete Remission: A Pilot Study (ASH 2024)
    Ten (77%) pts received blinatumomab as part of initial therapy...Among pts who completed the DLT period (n=11), 7 (64%) experienced transient grade (G) 1 cytokine release syndrome (CRS) that resolved with tocilizumab +/- corticosteroid...CAR T cells had a robust expansion in the blood and CSF despite the low antigen setting. We have observed preliminary durable remissions and pts maintained function and cognition on day 100 post CAR-T.
    Clinical • CAR T-Cell Therapy
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KMT2A (Lysine Methyltransferase 2A) • EP300 (E1A binding protein p300) • TCF3 (Transcription Factor 3) • PBX1 (PBX Homeobox 1) • ZNF384 (Zinc Finger Protein 384)
    |
    CDKN2A deletion
    |
    clonoSEQ
    |
    Blincyto (blinatumomab) • Actemra IV (tocilizumab)
    2ms
    Prevalence and co-mutation status of MTAP deletions (COSA 2024)
    MTAP deletions are common in the MoST/CaSP population, most frequently in CNS, pancreas, lung and melanoma patients. Detection of MTAP deletion was higher with the FM1&A paltform. MTAP deletions co-existed with CDKN2A deletions in >80% of the cohort.
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • MAT2A (Methionine Adenosyltransferase 2A)
    |
    CDKN2A deletion • MTAP deletion • KRAS deletion
    |
    TruSight Oncology 500 Assay
    2ms
    Ganglioglioma with MAP2K1 Mutation and CDKN2A/B Homozygous Deletion: A Case Report. (PubMed, Br J Hosp Med (Lond))
    Subsequently, salvage chemotherapy with a combination of temozolomide and irinotecan was administered, resulting in effective control of the tumor. Conclusion To our knowledge, this is the first reported case of ganglioglioma with anaplastic features harboring MAP2K1 mutation and homozygous deletion of CDKN2A/B. These findings may shed light on the genetic features of ganglioglioma and offers insights into potential therapeutic approaches for this rare neoplasm.
    Journal
    |
    BRAF (B-raf proto-oncogene) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    BRAF V600E • BRAF V600 • CDKN2A deletion • CDKN2A mutation
    |
    temozolomide • irinotecan
    2ms
    Soft Tissue Tumor with PAK2::RAF1 Kinase Fusion: An Emerging Sarcoma Entity. (PubMed, Case Rep Oncol)
    There was no evidence of disease progression at 4 months. This is the first case of a soft tissue tumor harboring a PAK2::RAF1 fusion with histological features in keeping with previous cases of RAF1 and other kinase fusion soft tissue tumors.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • CD34 (CD34 molecule) • PAK2 (P21 (RAC1) Activated Kinase 2)
    |
    CDKN2A deletion
    2ms
    The molecular history of IDH-mutant astrocytomas without adjuvant treatment. (PubMed, Brain Pathol)
    In summary, our studies demonstrated, in contrast to the phenomenon of temozolomide-induced hypermutation, IDH-mutant, 1p19q non-codeleted Grade 2 astrocytomas which had not been treated by temozolomide, acquired new CNVs at tumor recurrences. These findings improve our understanding of the molecular life history of IDH-mutant astrocytomas.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
    |
    CDKN2A deletion
    |
    temozolomide
    2ms
    CDKN2A Homozygous Deletion Is a Stronger Predictor of Outcome than IDH1/2-Mutation in CNS WHO Grade 4 Gliomas. (PubMed, Biomedicines)
    The present study suggests that CDKN2A deletion plays a powerful prognostic role in CNS WHO grade 4 gliomas. Even if CNS WHO grade 4 gliomas have mutant IDH1/2, they may have poor clinical outcomes because of CDKN2A deletion.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MGMT (6-O-methylguanine-DNA methyltransferase)
    |
    IDH1 mutation • CDKN2A deletion • CDKN2A mutation • MGMT promoter methylation • IDH wild-type
    |
    OncoaccuPanel™
    2ms
    Dual phenotypes in recurrent astrocytoma, IDH-mutant; coexistence of IDH-mutant and IDH-wildtype components: a case report with genetic and epigenetic analysis. (PubMed, Acta Neuropathol Commun)
    Because these genetic abnormalities can drive oncogenic pathways, such as the PI3K/AKT/mTOR and RB signaling pathway, IDH-mutant gliomas that acquired these mutations were no longer dependent on the initial driver mutation, the IDH mutation. Molecular analysis of this unique case provides insight that in a subset of astrocytoma, IDH-mutant that acquired these genetic abnormalities, IDH mutation may not play a pivotal role in tumor growth and acquisition of these genetic abnormalities may contribute to the acquisition of resistance to IDH inhibitors.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion • IDH wild-type
    2ms
    Frequency and Prognostic Impact of CDKN2A/B Alteration in Oligodendrogliomas: Systematic Review and Meta-analysis. (PubMed, Neurol Med Chir (Tokyo))
    The frequency (95% CI) of other alterations of the CDKN2A/B gene, i.e., mutation, hemizygous deletion, and promoter methylation, was estimated as 1.48% (0.6-3.5), 15.9% (9.8-24.7), and 20.6% (13.7-29.8), respectively. The clinical significance of these alterations remains unclear due to the immaturity of the investigations.
    Retrospective data • Review • Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CDK2 (Cyclin-dependent kinase 2)
    |
    CDKN2A deletion • CDKN2A mutation
    2ms
    Mutational landscape of Japanese patients with oral squamous cell carcinoma from comprehensive genomic profiling tests. (PubMed, Oral Oncol)
    This study analyzed the genomic profiles of patients with OSCC in Japan and the genetic differences between OSCC and other HNSCC subtypes. This analysis offers insights into the development of personalized therapeutics for OSCC.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CCND1 (Cyclin D1) • FGF19 (Fibroblast growth factor 19) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CASP8 (Caspase 8)
    |
    CDKN2A deletion
    2ms
    Reappraisal of prognostic factors in CNS WHO grade 3 oligodendrogliomas IDH-mutant and 1p/19q co-deleted: lessons from the French POLA cohort. (PubMed, Neuro Oncol)
    Necrosis and CDKN2A HD are adverse prognostic factors of WHO grade 3 oligodendrogliomas, IDH mutant and 1p/19q co-deleted. Besides, in group 1 patients, lack of contrast enhancement is a factor of better prognosis.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MVP (Major Vault Protein)
    |
    CDKN2A deletion
    2ms
    A multi-center, clinical analysis of IDH-mutant gliomas, WHO Grade 4: implications for prognosis and clinical trial design. (PubMed, J Neurooncol)
    These findings underscore the severe prognostic impact of CDKN2A/B deletion in IDH-mutant astrocytomas and highlight the need for further refinement of tumor prognostic categorization. Our results provide a key benchmark of baseline patient outcomes for therapeutic trials, underscoring the importance of CDKN2A/B status assessment, in addition to histologic grading, in clinical trial design and therapeutic decision-making for IDH-mutant astrocytoma patients.
    Journal
    |
    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion • CDKN2A mutation • IDH wild-type
    2ms
    BRAF/MEK inhibitors use for pediatric gliomas; real world experience from a resource-limited country. (PubMed, Front Oncol)
    Two patients with BRAFv600E-mutated/CDKN2A deleted PXA-2, had progression following resection, and experienced stable/partial response at 9 months of dabrafenib use...Two patients who stopped trametinib due to side effects (significant acneiform rash/paronychia and intracranial bleeding) did not experience progression. Our experience with BRAF/MEK inhibitors' use was positive achieving response in all LGGs and provided sustained response with good quality of life for patients with HGG. Cost effectiveness analyses and patients' satisfaction comparisons with chemotherapy are needed to evaluate the routine use of these drugs in LMICs.
    Journal • Real-world evidence • Real-world
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FGFR (Fibroblast Growth Factor Receptor)
    |
    BRAF V600E • FGFR mutation • CDKN2A deletion • CDKN2A mutation • BRAF fusion
    |
    Mekinist (trametinib) • Tafinlar (dabrafenib)
    2ms
    High-Grade Progression, Sarcomatous Transformation, and/or Metastasis of Pituitary Neuroendocrine Neoplasms (PitNENs): The UCSF Experience. (PubMed, Endocr Pathol)
    We conclude that metastatic PitNET is not the only high-grade form of pituitary NEN. If further confirmed, these histopathologic and/or molecular features could provide advanced warning of biological aggressiveness and be applied towards a future grading scheme.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • ATRX (ATRX Chromatin Remodeler)
    |
    TP53 mutation • PIK3CA mutation • PTEN mutation • CDKN2A deletion • TP53 expression • PDGFRB mutation
    2ms
    Uterine mesenchymal tumours harboring the KAT6B/A::KANSL1 gene fusion represent a distinct type of uterine sarcoma based on DNA methylation profiles. (PubMed, Virchows Arch)
    In conclusion, KAT6B/A::KANSL1 uterine sarcoma is a molecularly unique type of uterine tumour that should be recognized as a distinct entity. These tumors typically exhibit low-grade histologic features but are occasionally morphologically high-grade; the latter have a DNA methylation profile different from the typical low-grade neoplasms and may be associated with aggressive behaviour.
    Journal • Epigenetic controller
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • KAT6B (Lysine Acetyltransferase 6B)
    |
    CDKN2A deletion
    2ms
    Epigenetic landscape reorganisation and reactivation of embryonic development genes are associated with malignancy in IDH-mutant astrocytoma. (PubMed, Acta Neuropathol)
    RNA-sequencing was conducted on primary IDH-mutant astrocytomas (n = 138) included in the prospective CATNON trial, which was performed to assess the prognostic effect of adjuvant and concurrent temozolomide...Higher grade IDH-mutant astrocytomas have DNA-methylation signatures that, on the RNA level, are associated with increased cell cycling, tumour cell de-differentiation and extracellular matrix remodelling. These combined molecular signatures can serve as an objective marker for grading of IDH-mutant astrocytomas.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion
    |
    temozolomide
    2ms
    Testicular large B-cell lymphoma is genetically similar to PCNSL and distinct from nodal DLBCL. (PubMed, Hemasphere)
    However, we observed a subgroup of patients classified as BN2, both in localized and disseminated TLBCL, suggesting a degree of genetic heterogeneity in the TLBCL genetic profile. TLBCL has a distinctive genetic profile similar to PCNSL, supporting its recognition as a separate entity from DLBCL and might provide information to devise targeted therapeutic approaches.
    Journal • IO biomarker
    |
    BCL2 (B-cell CLL/lymphoma 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • BCL6 (B-cell CLL/lymphoma 6) • ETV6 (ETS Variant Transcription Factor 6) • CD79B (CD79b Molecule) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • EP300 (E1A binding protein p300) • PIM1 (Pim-1 Proto-Oncogene) • NODAL (Nodal Growth Differentiation Factor) • TBL1XR1 (TBL1X Receptor 1)
    |
    CDKN2A deletion • MYD88 L265P • MYC rearrangement • BCL6 rearrangement • BCL2 rearrangement • ETV6 mutation
    3ms
    Recurrent symptomatic intracranial hemorrhage in high-grade astrocytoma with piloid features: illustrative case. (PubMed, J Neurosurg Case Lessons)
    Although recurrent symptomatic intracranial hemorrhages are rare in HGAP, enhancing lesions on magnetic resonance imaging suggest the need for resection to obtain tissue for molecular diagnosis and guide adjuvant treatment strategies. https://thejns.org/doi/10.3171/CASE24395.
    Journal
    |
    FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TACC1 (Transforming Acidic Coiled-Coil Containing Protein 1)
    |
    CDKN2A deletion • FGFR1 fusion • FGFR1-TACC1 fusion
    3ms
    A clinically feasible algorithm for the parallel detection of glioma-associated copy number variation markers based on shallow whole genome sequencing. (PubMed, J Pathol Clin Res)
    Furthermore, we applied the algorithm to an independent glioma cohort and observed the expected sample distribution and prognostic stratification patterns. In conclusion, we provide a clinically applicable algorithm to classify the CNV status of glioma-associated markers in parallel.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    EGFR amplification • CDKN2A deletion
    3ms
    -New frontiers in domain-inspired radiomics and radiogenomics: increasing role of molecular diagnostics in CNS tumor classification and grading following WHO CNS-5 updates. (PubMed, Cancer Imaging)
    In this review, we explore the relative benefits and drawbacks of these computational frameworks and highlight the technical and clinical innovations presented by recent studies in the landscape of fast evolving molecular-based Glioma subtyping. Furthermore, the potential benefits and challenges of incorporating these tools into routine radiological workflows, aiming to enhance patient care and optimize clinical outcomes in the evolving field of CNS tumor management, have been highlighted.
    Review • Journal
    |
    EGFR (Epidermal growth factor receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    EGFR mutation • EGFR amplification • CDKN2A deletion • TERT mutation • TERT promoter mutation
    3ms
    Re-irradiation of anaplastic meningioma: higher dose and concomitant Bevacizumab may improve progression-free survival. (PubMed, Radiat Oncol)
    Re-irradiation presents a viable option for recurrent anaplastic meningioma despite the associated risk of radiation necrosis. Higher doses with concomitant Bevacizumab improve clinical outcomes and reduce toxicity. Individualized treatment approaches are necessary, emphasizing the importance of further research to refine management strategies for this challenging disease.
    Journal
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    CDKN2A deletion
    |
    Avastin (bevacizumab)
    3ms
    Molecular pathogenesis of adult T-cell leukemia/lymphoma (PubMed, Rinsho Ketsueki)
    Here we summarize the current understanding of the molecular pathogenesis of ATLL, focusing on recent progress made by genetic, epigenetic, and single-cell analyses. These findings not only provide a deeper understanding of the molecular pathobiology of ATLL, but also have significant implications for diagnostic and therapeutic strategies.
    Review • Journal • PD(L)-1 Biomarker • IO biomarker
    |
    PD-L1 (Programmed death ligand 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • IRF4 (Interferon regulatory factor 4) • PRKCB (Protein Kinase C Beta)
    |
    CDKN2A deletion • PD-L1 amplification • IRF4 mutation • PD-L1 mutation
    3ms
    Survival Outcomes Associated With First-Line Procarbazine, CCNU, and Vincristine or Temozolomide in Combination With Radiotherapy in IDH-Mutant 1p/19q-Codeleted Grade 3 Oligodendroglioma. (PubMed, J Clin Oncol)
    In patients with newly diagnosed O3IDHmt/Codel from the POLA cohort, first-line PCV/RT was associated with better OS outcomes compared with TMZ/RT. Our data suggest that the improved safety profile associated with TMZ comes at the cost of inferior efficacy in this population. Further investigation using prospective randomized studies is warranted.
    Journal • Combination therapy
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A)
    |
    CDKN2A deletion
    |
    temozolomide • vincristine • Matulane (procarbazine hydrochloride)