^
    2d
    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™
    2d
    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
    |
    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
    5d
    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
    |
    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
    6d
    Clinicopathological significance of methylthioadenosine phosphorylase (MTAP) expression loss in hepatobiliary tumors. (PubMed, Hum Pathol)
    About 20% of hepatobiliary carcinomas showed MTAP expression loss, which may benefit from MTAP-directed therapies. MTAP expression loss may be a diagnostic marker for malignant hepatobiliary tumors. MTAP-deleted CCAs and cHCC-CCAs may represent a distinct group of hepatobiliary tumors.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion • MTAP deletion
    7d
    Clinicopathologic, Molecular, and Treatment Features of Metastatic and Distantly Recurrent Extramammary Paget Disease: Mayo Clinic Experience. (PubMed, Oncologist)
    Metastatic EMPD exhibits distinct clinicopathologic and molecular features, including high AR and HER2 expression, TP53 and CDKN2A/B alterations, and similarity to systemic HER2+ malignancies. The observed activity of HER2-directed therapies in this cohort suggests the potential value of further investigating biomarker-guided treatment strategies in metastatic EMPD. NGS-guided profiling may inform precision treatment strategies, including AR-targeted therapy and emerging MTAP-directed approaches.
    Journal
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    TP53 (Tumor protein P53) • AR (Androgen receptor) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • GATA3 (GATA binding protein 3)
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    TP53 mutation • HER-2 amplification • HER-2 mutation • HER-2 expression • CDKN2A deletion
    7d
    Landscape of genetic alterations affecting cancer genes in primary and advanced malignant phyllodes tumours. (PubMed, Histopathology)
    Taken together, the repertoire of genetic alterations in primary and metastatic/recurrent MPTs shows overlap, and CDKN2A/2B homozygous deletions may play a role in progression. Additionally, molecular profiles of MPTs may vary according to genetic ancestry and MED12 mutational status.
    Journal • Tumor mutational burden
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    EGFR (Epidermal growth factor receptor) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • MED12 (Mediator Complex Subunit 12)
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    TMB-H • PTEN mutation • CDKN2A deletion • RB1 mutation
    15d
    A subset of high-grade sarcomas with myogenic differentiation are associated with recurrent FGFR fusions. (PubMed, J Pathol Clin Res)
    Most patients followed an aggressive clinical course, including metastases and disease-related mortality. These findings expand the spectrum of sarcomas driven by FGFR gene fusions, underscoring the importance of molecular testing for accurate diagnosis and potential targeted therapy in high-grade sarcomas with myogenic features.
    Journal
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    TP53 (Tumor protein P53) • FGFR2 (Fibroblast growth factor receptor 2) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • FGFR (Fibroblast Growth Factor Receptor) • FGFR4 (Fibroblast growth factor receptor 4)
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    TP53 mutation • FGFR2 fusion • CDKN2A deletion • FGFR fusion • RB1 deletion
    15d
    S095035 as a Single Agent and in Combination in Adult Participants With Advanced or Metastatic Solid Tumors With Deletion of MTAP (clinicaltrials.gov)
    P1/2, N=60, Active, not recruiting, Servier Bio-Innovation LLC | N=342 --> 60 | Trial completion date: Oct 2031 --> May 2027 | Trial primary completion date: Oct 2031 --> May 2027 | Recruiting --> Active, not recruiting
    Enrollment closed • Enrollment change • Trial completion date • Trial primary completion date • First-in-human
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase)
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    CDKN2A deletion • MTAP deletion • IDH wild-type
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    vopimetostat (TNG462)
    17d
    Optical genome mapping uncovers disease-defining variants in an adult T-lymphoblastic leukemia and impacts prognosis. (PubMed, Mol Cytogenet)
    OGM revealed multiple clinically relevant structural variants and partner genes impacted in adult T-lymphoblastic leukemia that were not part of the standard cytogenetic workup, thereby improving genomic characterization and risk assessment. Identification of alterations involving FBXW7, NOTCH1, TLX3::BCL11B, PHF6, MYB, and CDKN2A provided a comprehensive genomic profile that informed counseling regarding prognosis and supported treatment selection. Integrating OGM into routine evaluation of myeloid and lymphoid neoplasms has the potential to streamline diagnostic workflows and ensure that disease-defining aberrations critical for diagnosis, prognosis, and targeted therapy selection are not overlooked.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD20 (Membrane Spanning 4-Domains A1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • CD34 (CD34 molecule) • PHF6 (PHD Finger Protein 6) • CD7 (CD7 Molecule) • BCL11B (BAF Chromatin Remodeling Complex Subunit BCL11B) • MPO (Myeloperoxidase)
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    CDKN2A deletion
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    bortezomib
    19d
    Clinicogenomic Landscape of MTAP-Deleted Thoracic Malignancies Across US and Japanese Nationwide Cohorts: Impact of Concurrent CDKN2A Alterations and Driver Mutations. (PubMed, JCO Precis Oncol)
    MTAP-deleted thoracic tumors exhibit reproducible clinical and molecular features across populations. Our findings support the rational, globally applicable development of MTAP-targeted synthetic lethal strategies in thoracic malignancies, particularly in combination with molecular targeted agents.
    Journal • Tumor mutational burden • IO biomarker
    |
    EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • RB1 (RB Transcriptional Corepressor 1) • MTAP (Methylthioadenosine Phosphorylase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    EGFR mutation • ALK fusion • CDKN2A deletion • MTAP deletion • RB1 mutation
    20d
    CDKN2A/B status and histological grade independently predict post-recurrence survival in recurrent IDH-mutant astrocytoma. (PubMed, Brain Tumor Pathol)
    Risk stratification based on histological grade and CDKN2A/B status effectively predicted survival outcomes following recurrence. In conclusion, CDKN2A/B status, alongside histological grading, represents an independent prognostic indicator in recurrent IDH-mutant astrocytoma.
    Journal
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion
    21d
    Recurrent SWI/SNF Deficiency Defines a Subset of Peripheral T-cell Lymphoma With Distinct Clinicopathologic Features. (PubMed, Mod Pathol)
    Death due to disease or therapy-related complications occurred in 4/8 (50%) cases in the SWI/SNF-deficient group and 6/7 (86%) of cases in the SWI/SNF-intact group. Our findings expand the knowledge of the clinicopathologic and molecular features of pediatric PTCL and highlight SWI/SNF-deficient T-cell lymphoma as a biologically distinct type of PTCL that is associated with characteristic clinicopathologic features.
    Journal
    |
    TP53 (Tumor protein P53) • PTEN (Phosphatase and tensin homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CD8 (cluster of differentiation 8) • TET2 (Tet Methylcytosine Dioxygenase 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • TBX21 (T-Box Transcription Factor 21) • GATA3 (GATA binding protein 3) • SPN (Sialophorin)
    |
    CDKN2A deletion • PTPRC expression