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    CANCER:

    Astrocytoma

    Related cancers:
    2d
    The landscape of primary mismatch repair deficient gliomas in children, adolescents, and young adults: a multi-cohort study. (PubMed, Lancet Oncol)
    Primary MMRD is more common than previously reported in gliomas in children, adolescents, and young adults, is enriched in specific molecular subgroups, and is associated with poor outcomes. Accurate detection, genetic testing, early diagnosis through surveillance, and implementation of immunotherapy might improve survival for these patients.
    Journal • Mismatch repair • IO biomarker
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    TP53 (Tumor protein P53)
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    BRAF V600E • MSI-H/dMMR • BRAF V600
    3d
    Oligoastrocytoma: The Vanishing Entity With True Dual Genotype, a Report, its Molecular Profiles and Review of Literature. (PubMed, Int J Surg Pathol)
    TERT mutation was present in the oligodendroglioma component, whereas it was absent in the astrocytoma component. Although rare, gliomas harboring both oligodendroglioma and astrocytoma components in a single tumor exist and show genetically distinct areas.
    Review • Journal
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    TP53 (Tumor protein P53) • TERT (Telomerase Reverse Transcriptase) • ATRX (ATRX Chromatin Remodeler)
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    TP53 mutation • ATRX mutation • TERT mutation • TP53 expression
    4d
    ROOT: The Registry of Oncology Outcomes Associated with Testing and Treatment (clinicaltrials.gov)
    P=N/A, N=167, Completed, Taproot Health | Recruiting --> Completed | N=100000 --> 167 | Trial completion date: Oct 2031 --> Oct 2024 | Trial primary completion date: Oct 2029 --> Oct 2024
    Trial completion • Enrollment change • Trial completion date • Trial primary completion date
    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
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    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)
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    TP53 mutation • PTEN mutation • CDKN2A deletion • CDK4 amplification • TERT mutation • TERT promoter mutation
    4d
    An agarose fluidic chip for high-throughput in toto organoid imaging. (PubMed, Lab Chip)
    Finally, imaging a batch of LMNA knockout vs. wildtype astrocytoma spheroids revealed significant differences in their DNA damage response, underscoring the system's sensitivity and throughput. Overall, the fluidic chip design provides a cost-effective, accessible, and efficient solution for high-throughput organoid imaging.
    Journal
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    LMNA (Lamin A/C)
    9d
    Pharmacological Blockade of Group II Metabotropic Glutamate Receptors Reduces the Incidence of Brain Tumors Induced by Prenatal Exposure to N-ethyl-N-nitrosourea in Rats. (PubMed, Curr Neuropharmacol)
    Tumors in both groups of rats showed a moderate/high expression of the astrocyte marker, GFAP, and the oligodendrocyte marker, OLIG-2, and a low expression of the proliferation marker, Ki-67. However, tumors of the ENU + LY341495 group showed a reduced density of Iba-1+ cells, suggesting a lower extent of neuroinflammation in the tumor microenvironment. These findings strengthen the hypothesis that mGlu3 receptors are candidate drug targets for the treatment of malignant gliomas.
    Preclinical • Journal
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    GFAP (Glial Fibrillary Acidic Protein)
    10d
    Small RNA Sequencing of Differentiated Astrocytoma exposed to NMOSD patient sera reveals perturbations in Neurodegenerative Signaling. (PubMed, Exp Cell Res)
    Furthermore, NGS also revealed differential expression of several piRNAs in cells upon treatment with AQP4-IgG+ve and MOG-IgG+ve sera and VEGF signaling was identified as the common target of differentially expressed piRNAs of both the groups. This study, for the first time, revealed that the molecular pathophysiology of double-seronegative NMOSD might involve astrocytopathy akin to AQP4+ve NMOSD, thus pointing towards the possible existence of unidentified astrocytic autoimmune targets and identified the major alterations in intracellular sncRNAs and the associated overall cellular signaling pathways that potentially contribute to the fate of astrocytes during the progression of the disease.
    Journal
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    MIR200B (MicroRNA 200b) • MIR324 (MicroRNA 324) • GFAP (Glial Fibrillary Acidic Protein)
    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
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion
    11d
    Adenovirus Mediated Suicide Gene Therapy With Radiotherapy in Progressive Astrocytoma. (clinicaltrials.gov)
    P1, N=18, Recruiting, Henry Ford Health System | Trial completion date: Oct 2024 --> Oct 2026 | Trial primary completion date: Oct 2024 --> Oct 2025
    Trial completion date • Trial primary completion date • Surgery • Gene therapy
    16d
    Differential gene expression analysis supports dysregulation of mitochondrial activity as a new perspective for glioblastoma's aggressiveness. (PubMed, Heliyon)
    To validate the findings, we used other independent bulk RNA-seq datasets and evaluated the number of normalized counts of the DEGs founded. Among these genes, we highlight that none of them had been reported in glioblastoma until this research, and we suggest these genes as possible biomarkers to be further explored, since they are associated with essential pathways for the tumor, such as glucose metabolization, gluconeogenesis, calcium and vitamin D metabolism, tumor progression and activation of the invasion cascade.
    Journal
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    HMGCS2 (3-Hydroxy-3-Methylglutaryl-CoA Synthase 2) • SLC2A4 (Solute Carrier Family 2 Member 4)
    17d
    Prognostic value of immunohistochemical staining for H3K27me3 and EZH2 in astrocytoma, IDH-mutant. (PubMed, J Neurooncol)
    Positivity for H3K27me3, especially double positivity for H3K27me3 and EZH2, could be a poor prognostic factor for astrocytoma, IDH-mutant. These results suggest the utility of H3K27me3 and EZH2 as candidate markers for estimating the malignancy of astrocytoma, IDH-mutant.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MTAP (Methylthioadenosine Phosphorylase) • ATRX (ATRX Chromatin Remodeler)
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    EZH2 mutation • IDH1 R132H • IDH1 R132 • EZH2 positive
    18d
    Efineptakin Alfa and Pembrolizumab for the Treatment of Recurrent Glioblastoma (clinicaltrials.gov)
    P2, N=44, Recruiting, Mayo Clinic | Trial completion date: Oct 2025 --> Oct 2028 | Trial primary completion date: Oct 2024 --> Oct 2027
    Trial completion date • Trial primary completion date • Tumor mutational burden
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    Keytruda (pembrolizumab) • Hyleukin-7 (efineptakin alfa)
    18d
    Investigational Imaging Technique During Brain Surgery (clinicaltrials.gov)
    P=N/A, N=24, Not yet recruiting, Emory University | Trial completion date: Jun 2025 --> Jun 2027 | Trial primary completion date: Jun 2025 --> Jun 2026
    Trial completion date • Trial primary completion date • Surgery
    18d
    Clusterin Deficiency Promotes Cellular Senescence in Human Astrocytes. (PubMed, Mol Neurobiol)
    This report shows the important role of CLU in cell cycle maintenance in astrocytes. Based on these data, targeting CLU may serve as a potential therapeutic approach valuable for treating gliomas.
    Journal
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    CLU (Clusterin)
    23d
    Study of Safety and Pharmacokinetic Properties of Oral OKN-007 in Patients with Recurrent High-Grade Glioma (clinicaltrials.gov)
    P1, N=16, Active, not recruiting, Oblato, Inc. | Trial primary completion date: Dec 2024 --> May 2025
    Trial primary completion date
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    disufenton sodium (OKN-007)
    25d
    Prognostic Role of Invasion-Related Extracellular Matrix Molecules in Diffusely Infiltrating Grade 2 and 3 Astrocytomas. (PubMed, Brain Sci)
    Based on the invasion spectrum determined by this joint gene and protein expression analysis, there was a sensitivity of 87.5% and a negative predictive value of 88.9% regarding the different prognostic groups of grade 2 astrocytoma. For grade 3 tumors, the applied standard oncotherapeutic modalities apparently lacked significant anti-invasive effects.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • VCAN (Versican)
    26d
    A glioneuronal tumor with neurocytic rosettes harboring FGFR1 internal tandem duplication - A report of a unique case. (PubMed, Neuropathology)
    No areas characteristic of dysembryoplastic neuroepithelial tumor were identified. A brief review of literature on discrepancies between morphological diagnosis of RGNT and molecular profile of the entity is provided.
    Journal
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    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • FGFR1 (Fibroblast growth factor receptor 1) • NF1 (Neurofibromin 1) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1)
    27d
    Canonical Amplifications and CDKN2A/B Loss Refine IDH1/2-mutant Astrocytoma Prognosis. (PubMed, Neuro Oncol)
    Combining CDKN2A/B hemizygous-loss and focal gene amplifications reveals a group of IDHmut-astrocytoma patients with intermediate prognosis, refining IDHmut-astrocytoma classification.
    Journal
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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)
    27d
    HSV-tk and XRT and Chemotherapy for Newly Diagnosed GBM (clinicaltrials.gov)
    P1/2, N=62, Recruiting, The Methodist Hospital Research Institute | Trial primary completion date: Dec 2023 --> Dec 2025
    Trial primary completion date • Gene therapy
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    ProstAtak (aglatimagene besadenovec) • valacyclovir
    1m
    Neo-adjuvant Evaluation of Glioma Lysate Vaccines in WHO Grade II Glioma (clinicaltrials.gov)
    P1, N=28, Completed, Jennie Taylor | Active, not recruiting --> Completed
    Trial completion
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    CD8 (cluster of differentiation 8) • CXCL10 (Chemokine (C-X-C motif) ligand 10)
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    CXCL10 expression
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    GBM6-AD • Hiltonol (poly-ICLC)
    1m
    The engagement of Ras/Raf/MEK/ERK and PLCγ1/PKC pathways regulated by TrkB receptor in resistance of glioma cells to elimination upon apoptosis induction. (PubMed, Neuropharmacology)
    Sorafenib, Temozolomide, U-73122, and LOXO-101 effectively eliminate cancer cells. Inhibiting the pathways regulated by TrkB receptor combined with Temozolomide action, led to successful gliomas elimination. Those results might serve as basis for modern targeted treatment development.
    Journal • IO biomarker
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    BCL2 (B-cell CLL/lymphoma 2) • NTRK2 (Neurotrophic tyrosine kinase, receptor, type 2) • CASP8 (Caspase 8) • CASP9 (Caspase 9) • BECN1 (Beclin 1)
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    Vitrakvi (larotrectinib) • sorafenib • temozolomide
    1m
    Mycophenolate Mofetil Combined With Radiation Therapy in Glioblastoma (clinicaltrials.gov)
    P1, N=68, Recruiting, University of Michigan Rogel Cancer Center | Trial completion date: Oct 2027 --> Feb 2028 | Trial primary completion date: Oct 2024 --> Feb 2025
    Trial completion date • Trial primary completion date
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    temozolomide
    1m
    NRG-BN010: Testing the Addition of the Immune Therapy Drugs, Tocilizumab and Atezolizumab, to Radiation Therapy for Recurrent Glioblastoma (clinicaltrials.gov)
    P2, N=53, Active, not recruiting, National Cancer Institute (NCI) | Recruiting --> Active, not recruiting
    Enrollment closed
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    EGFR (Epidermal growth factor receptor) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase)
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    EGFR amplification • TERT mutation • IDH wild-type • TERT promoter mutation
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    Tecentriq (atezolizumab) • Actemra IV (tocilizumab)
    1m
    Molecular characterization of adult non-glioblastoma central nervous system (CNS) tumors to identify potential targettable alterations (AIOM 2024)
    4 pts received TT at recurrence, within clinical trials: one with grade 3 meningioma and ALK rearrangement treated with alectinib, one with PTCH1 mutant medulloblastoma treated with vismodegib, and two with high TMB treated with nivolumab/ipilumumab. The incidence of targettable molecular alterations in adult CNS tumor patients was lower than in GBM. Nevertheless, in a few selected cases TT have the potential to increase treatment options at recurrence and improve outcomes.
    Clinical • Tumor mutational burden • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • TMB (Tumor Mutational Burden) • MET (MET proto-oncogene, receptor tyrosine kinase) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • POLE (DNA Polymerase Epsilon) • MDM2 (E3 ubiquitin protein ligase) • PTCH1 (Patched 1) • NF2 (Neurofibromin 2) • BRCA (Breast cancer early onset) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRAF V600E • BRCA2 mutation • BRCA1 mutation • TMB-H • PIK3CA mutation • MET amplification • ALK rearrangement • FGFR1 amplification • POLE mutation • NF1 mutation • MDM2 amplification • RET mutation • PTCH1 mutation • NF2 mutation • ROS1 mutation • BRCA mutation • ALK rearrangement + PIK3CA mutation • PTCH1 rearrangement • NTRK fusion
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    FoundationOne® CDx
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    Opdivo (nivolumab) • Yervoy (ipilimumab) • Alecensa (alectinib) • Erivedge (vismodegib)
    1m
    Stereotactic Photodynamic Therapy of Recurrent Malignant Gliomas. (PubMed, Sovrem Tekhnologii Med)
    In the early postoperative period, two patients had motor aphasia and hemiparesis, which further regressed. The results of a small group of patients allow to consider sPDT with 5-ALA as a promising technique to treat patients with recurrent high-grade gliomas in functionally relevant brain areas and require further prospective assessment.
    Retrospective data • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    1m
    Cerebellopontine angle pilocytic astrocytoma in adults: A systematic review. (PubMed, Surg Neurol Int)
    The CPA PA has rarely been found in adult patients and should be considered in the differential diagnosis of vestibular schwannoma and epidermoid cysts. In these rare cases, the histological characteristics of PA are significant for the differential diagnosis of GBM.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    1m
    Central nervous system manifestations of tuberous sclerosis complex: A single centre experience in Qatar. (PubMed, Saudi Med J)
    Multidisciplinary management and further research is needed to optimize the care and quality of life of TSC affected individuals and their families.
    Retrospective data • Journal
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    TSC2 (TSC complex subunit 2)
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    TSC2 mutation
    1m
    INCB7839 in Treating Children With Recurrent/Progressive High-Grade Gliomas (clinicaltrials.gov)
    P1, N=13, Active, not recruiting, Pediatric Brain Tumor Consortium | Trial completion date: Jun 2024 --> Mar 2025
    Trial completion date
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    HER-2 (Human epidermal growth factor receptor 2) • CD4 (CD4 Molecule) • ADAM10 (ADAM Metallopeptidase Domain 10)
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    aderbasib (INCB7839)
    1m
    NCI-2018-00876: Telaglenastat With Radiation Therapy and Temozolomide in Treating Patients With IDH-Mutated Diffuse Astrocytoma or Anaplastic Astrocytoma (clinicaltrials.gov)
    P1, N=40, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2025 | Trial primary completion date: Dec 2024 --> Dec 2025
    Trial completion date • Trial primary completion date • Combination therapy
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    IDH1 mutation • IDH2 mutation
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    temozolomide • telaglenastat (CB-839)
    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
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion • CDKN2A mutation
    1m
    Detection of 1p/19q Co-deletion Using Hybridization-Capture-Based Targeted Next-Generation Sequencing (AMP 2024)
    Targeted hybridization-capture-based NGS assays can be a robust and reliable method for detecting 1p/19q co-deletion in gliomas. NGS methodologies provide enhanced resolution of copy number alterations but require a minimum tumor content.
    Next-generation sequencing
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    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
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    TP53 mutation • IDH wild-type • IDH1 mutation + TP53 mutation
    |
    TruSight Oncology 500 Assay
    1m
    ACNS1721: Veliparib, Radiation Therapy, and Temozolomide in Treating Patients With Newly Diagnosed Malignant Glioma Without H3 K27M or BRAFV600 Mutations (clinicaltrials.gov)
    P2, N=38, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Sep 2024 --> Oct 2025
    Trial completion date
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    BRAF (B-raf proto-oncogene)
    |
    IDH wild-type
    |
    temozolomide • veliparib (ABT-888)
    1m
    Study of Olutasidenib and Temozolomide in HGG (clinicaltrials.gov)
    P2, N=60, Not yet recruiting, Rigel Pharmaceuticals | Initiation date: Jun 2024 --> Nov 2024
    Trial initiation date
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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    IDH1 mutation
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    temozolomide • Rezlidhia (olutasidenib)
    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
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    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
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    CDKN2A deletion
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    NYU Langone Genome PACT assay
    2ms
    Current status of cancer genomic profiling (CGP) tests in brain tumor treatment - complementing brain tumor pathological diagnosis with CGP- (SNO 2024)
    Molecular diagnostics through CGP testing served as an aid in diagnosis according to WHO2021. Cases where drug suggestions were feasible underwent treatment with targeted molecular therapies and checkpoint inhibitor. We experienced cases where hereditary cancer syndromes such as Lynch syndrome were diagnosed through the detection of germline pathogenic variants.
    BRAF (B-raf proto-oncogene) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MSH6 (MutS homolog 6)
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    BRAF V600E • TMB-H • BRAF V600 • IDH1 R132H • TERT mutation • IDH wild-type • IDH1 R132 • IDH mutation + BRAF V600E
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    FoundationOne® CDx • OncoGuide™ NCC Oncopanel System
    2ms
    Prospective germline sequencing of patients with gliomas, glioneuronal or neuronal tumors (SNO 2024)
    Clinical germline sequencing identifies a germline mutation in a high proportion of patients with CNS tumors. Biallelic inactivation was most commonly identified in tumors from patients with germline TP53 or NF1 mutations and were less common in patients with a germline MMR alteration.
    Clinical • BRCA Biomarker
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    TP53 (Tumor protein P53) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NF1 (Neurofibromin 1) • CHEK2 (Checkpoint kinase 2) • MUTYH (MutY homolog)
    |
    TP53 mutation • NF1 mutation • CHEK2 mutation • IDH wild-type
    |
    MSK-IMPACT
    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
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    OncoaccuPanel™
    2ms
    Single-cell analysis of osmoregulation reveals heterogeneity of aquaporin 4 functionality in human astrocytes. (PubMed, Cytometry A)
    The osmotic response of primary fetal astrocytes and human iPSC-derived astrocyte models was comparable to AQP4-deficient astrocytoma cells, in line with their low AQP4 levels and indicative of their immature state. In conclusion, a correlative single-cell approach based on the quantification of Calcein-AM quenching capacity, AQP4 abundance and AQP4 membrane enrichment, allows resolving osmoregulation in a more sensitive manner and reveals heterogeneity between and within human astrocyte (-like) cultures, which could prove crucial for future screens aimed at identifying AQP4 modulators.
    Journal
    |
    CD44 (CD44 Molecule)
    2ms
    Lapatinib Ditosylate Before Surgery in Treating Patients With Recurrent High-Grade Glioma (clinicaltrials.gov)
    P1, N=29, Completed, National Cancer Institute (NCI) | Active, not recruiting --> Completed | Trial completion date: Oct 2025 --> Oct 2024
    Trial completion • Trial completion date • Surgery
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    EGFR (Epidermal growth factor receptor)
    |
    EGFR amplification
    |
    lapatinib
    2ms
    Spermine Synthase : A Potential Prognostic Marker for Lower-Grade Gliomas. (PubMed, J Korean Neurosurg Soc)
    High SMS expression in LGGs may promote tumor occurrence through cellular proliferation and modulation of immune cell infiltration. These findings suggest the prognostic value of SMS in predicting clinical outcomes for LGG patients.
    Journal
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    CD8 (cluster of differentiation 8)
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    IDH wild-type
    2ms
    Solitary subependymal giant cell astrocytoma lacking TSC1/2 mutations and TTF-1 expression: A potential diagnostic pitfall. (PubMed, Neuropathology)
    This case highlights the potential diagnostic pitfall of SEGA lacking TTF-1 expression and emphasizes the importance of considering this entity in the differential diagnosis of intraventricular tumors, even in the absence of TS and characteristic molecular alterations. The existence of TTF-1 negative SEGAs reveals that these tumors might also derive from TTF-1 negative cells in the subpendymal region.
    Journal
    |
    BAP1 (BRCA1 Associated Protein 1) • TSC2 (TSC complex subunit 2) • BCOR (BCL6 Corepressor) • TSC1 (TSC complex subunit 1) • TTF1 (Transcription Termination Factor 1) • NKX2-1 (NK2 Homeobox 1) • SOX2 • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    BAP1 mutation • TSC1 mutation • TSC2 mutation • NKX2-1 expression • TTF1 negative
    2ms
    Lapatinib Ditosylate Before Surgery in Treating Patients With Recurrent High-Grade Glioma (clinicaltrials.gov)
    P1, N=29, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Oct 2024 --> Oct 2025
    Trial completion date
    |
    EGFR (Epidermal growth factor receptor)
    |
    EGFR amplification
    |
    lapatinib