^
    2d
    Molecular and clinical prognostic factors in isocitrate dehydrogenase-mutant astrocytomas: Insights into biomarker-driven stratification. (PubMed, J Neuropathol Exp Neurol)
    Our study validates the prognostic value of the WHO 2021 classification for IDH-mutant astrocytomas and demonstrates that MET and PDGFRA alterations are independent adverse prognostic factors, comparable to CDKN2A/B HD. Their cumulative burden enables refined molecular risk stratification to guide clinical management.
    Clinical • Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion • MET mutation
    4d
    Anaplastic ovarian mucinous carcinoma with yolk sac differentiation: a rare case report and literature review. (PubMed, AME Case Rep)
    Gene mutations were identified in some of the cases, for instance CDKN2A and CDKN2B genes deletion, as well as KRAS and TP53 genes mutation. This tumor is highly aggressive, 75.0% (6/8) of the cases recurred or dead within one year of diagnosis.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    TP53 mutation • KRAS mutation • CDKN2A deletion
    5d
    The prognostic impact of CDKN2A/B hemizygous deletions in meningioma. (PubMed, Neuro Oncol)
    Our findings suggest that hemizygous CDKN2A/B deletions overall do not confer worse risks for progression in meningiomas. The signal for segmental deletions may not be locus-specific but just one representation of the generally instable genome of aggressive meningiomas.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion
    6d
    Concurrent Retinoblastoma 1 (RB1) and IKZF1 Deletions Have Adverse Outcome in Childhood B-Cell Acute Lymphoblastic Leukemia (B-ALL). (PubMed, Int J Lab Hematol)
    The B-ALL patients with concurrent RB1 and IKZF1 deletions had worse outcomes compared to cases without any of these deletions. The RB1 deletion increased the risk of early events in patients with the IKZF1plus profile.
    Journal • Adverse events
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    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)
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    CDKN2A deletion • RB1 deletion
    6d
    Pembrolizumab, Olaparib, and Temozolomide for People With Glioma (clinicaltrials.gov)
    P2, N=57, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Jan 2026 --> Jan 2027 | Trial primary completion date: Jan 2026 --> Jan 2027
    Trial completion date • Trial primary completion date
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    EGFR (Epidermal growth factor receptor) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • HRD (Homologous Recombination Deficiency) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FGFR (Fibroblast Growth Factor Receptor) • CDK12 (Cyclin dependent kinase 12) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • CHEK2 (Checkpoint kinase 2) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCL (FA Complementation Group L) • PPP2R2A (Protein Phosphatase 2, Regulatory Subunit B, Alpha)
    |
    CDKN2A deletion • BRIP1 mutation • RAD51C mutation • RAD51B mutation • BARD1 mutation • IDH wild-type
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    Keytruda (pembrolizumab) • Lynparza (olaparib) • temozolomide
    10d
    Comprehensive Genomic Profiling of Acral Melanoma: Insights From the AACR Project GENIE Database. (PubMed, Am J Dermatopathol)
    This study provides a comprehensive genomic overview of AM, highlighting recurrent alterations in the MAPK and cell cycle pathways, and potential demographic-specific molecular signatures. These findings support the need for expanded molecular profiling to improve prognostic accuracy and identify targets for future therapy.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • TERT (Telomerase Reverse Transcriptase) • CCND1 (Cyclin D1) • CDK4 (Cyclin-dependent kinase 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PTPRT (Protein tyrosine phosphatase receptor type T) • NAB2 (NGFI-A Binding Protein 2)
    |
    KRAS mutation • BRAF mutation • CDKN2A deletion
    10d
    Case Report: IGFBP5-ALK fusion-positive case of high-grade endometrial stromal sarcoma with response to ALK-targeted therapy. (PubMed, Front Oncol)
    After failure of gemcitabine/docetaxel chemotherapy, next-generation sequencing identified an IGFBP5-ALK fusion (breakpoint: IGFBP5 exon 1 - ALK exon 19), a TERT promoter mutation, and a homozygous CDKN2A/CDKN2B/MTAP deletion. This case highlights the first documented response to an ALK inhibitor in ALK-rearranged HG-ESS. The findings underscore the importance of comprehensive molecular profiling in identifying targetable alterations in rare sarcomas and support the use of iruplinalkib as an effective therapeutic option in this setting.
    Journal
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    ALK (Anaplastic lymphoma kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • BCOR (BCL6 Corepressor) • IGFBP5 (Insulin Like Growth Factor Binding Protein 5)
    |
    ALK positive • ALK rearrangement • ALK fusion • CDKN2A deletion • MTAP deletion
    |
    gemcitabine • docetaxel • Qi Xinke (iruplinalkib)
    11d
    Epithelioid and spindle cell rhabdomyosarcoma of the rib with FUS-TFCP2 fusion: A case report and literature review. (PubMed, Oncol Lett)
    The patient succumbed to the disease 4 months after surgery. RMS with FUS-TFCP2 fusion is rare, highly aggressive and associated with a poor prognosis.
    Journal
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    ALK (Anaplastic lymphoma kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FUS (FUS RNA Binding Protein) • TFCP2 (Transcription Factor CP2) • MYOD1 (Myogenic Differentiation 1)
    |
    CDKN2A deletion
    12d
    Genomic Characterization of Lung Cancer in Never-Smokers Using Deep Learning. (PubMed, Mod Pathol)
    Compared to results from established architectures such as Inception-v3 on the same WSIs, our model demonstrated significantly improved performance for most features. With further optimization, our model could support triaging for molecular testing and inform precision treatment strategies for NS-LUAD patients.
    Journal • Tumor mutational burden
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MDM2 (E3 ubiquitin protein ligase) • RBM10 (RNA Binding Motif Protein 10)
    |
    TP53 mutation • KRAS mutation • EGFR mutation • KRAS G12C • EGFR L858R • KRAS G12D • ALK fusion • CDKN2A deletion • KRAS G12
    12d
    Prognostic Significance of Abnormal MTAP and p16 Expression in Gastrointestinal Stromal Tumors (GISTs). (PubMed, Appl Immunohistochem Mol Morphol)
    Overexpression as well as loss of MTAP and p16 expression correlated with the presence of epithelioid histology (either pure or mixed with a spindle cell component), higher grade and pT-stage, necrosis, higher NCCN risk groups, and widespread disease at presentation. Overexpression as well as loss of MTAP and p16 expression predicts shortened progression-free survival and is associated with various known poor prognostic clinicopathologic parameters.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
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    CDKN2A deletion
    13d
    Genomic characterization and prognostic significance of copy number alterations in Tunisian patients with acute lymphoblastic leukemia. (PubMed, PLoS One)
    Additionally, the integration of IKZF1 deletion status into risk stratification models revealed markedly different survival outcomes, highlighting its potential interest in developing new stratification algorithms. These results underscore the critical importance of molecular profiling, particularly IKZF1 status, for improving outcomes in ALL patients in Tunisia.
    Journal
    |
    ABL1 (ABL proto-oncogene 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • ETV6 (ETS Variant Transcription Factor 6) • IKZF1 (IKAROS Family Zinc Finger 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PAX5 (Paired Box 5)
    |
    CDKN2A deletion
    14d
    Optic nerve sheath meningioma exhibits neural niche-associated transcriptomic features and rare copy number variation-linked evolution. (PubMed, Brain Pathol)
    ONSM represents a predominantly NF2-intact meningioma subtype defined by neural niche-associated transcriptional signatures. Although typically indolent, ONSM can, in rare instances, evolve into an aggressive disease through further accumulation of CNVs.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    |
    CDKN2A deletion