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    GENE:

    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)

    i
    Other names: SMARCB1, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1, Protein Phosphatase 1, Regulatory Subunit 144 , Sucrose Nonfermenting, Yeast, Homolog-Like 1, Malignant Rhabdoid Tumor Suppressor , Integrase Interactor 1 Protein, BRG1-Associated Factor 47, SNF5 Homolog, SNF5L1, BAF47, HSNF5, INI1, SWI/SNF-Related Matrix-Associated Protein, PPP1R144, SWNTS1, MRD15, RTPS1, CSS3, SNF5, Snr1, BAF47, MRD15, RTPS1, Sfh1p, hSNFS
    6d
    Review of the literature on new histologic entities in sinonasal cancer. (PubMed, Eur Ann Otorhinolaryngol Head Neck Dis)
    It is essential to be able to identify these entities, as they have distinct profiles in terms of progression and prognosis compared to other sinonasal tumors. The present study exhaustively describes their clinical and pathologic characteristics.
    Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • AFF2 (AF4/FMR2 family member 2)
    11d
    Paediatric Therapeutic Development Workshop on rhabdoid tumours. (PubMed, Br J Cancer)
    Mouse double minute 2 homologue (MDM2) is a priority target for novel therapeutic development and combination trials. Combinations of EZH2, MDM2 inhibitors and selective inhibitors of nuclear export should be evaluated robustly preclinically and drive early clinical studies.
    Review • Journal
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    FGFR (Fibroblast Growth Factor Receptor) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • DDB1 (Damage Specific DNA Binding Protein 1)
    13d
    Clinicopathological features of SMARCB1/INI1-deficient medullary-like renal cell carcinoma: Report of 3 cases and literature review. (PubMed, Ann Diagn Pathol)
    Given its highly aggressive nature, early and accurate diagnosis is crucial. Pathologists must integrate clinical history, morphological characteristics, immunophenotype for a comprehensive diagnosis.
    Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • VIM (Vimentin)
    18d
    Clinicopathological and molecular features of acquired cystic disease-associated renal cell carcinoma (PubMed, Zhonghua Bing Li Xue Za Zhi)
    ACD-RCC is a rare renal cell carcinoma that occurs in patients with end-stage renal disease and has unique morphological features. It is often associated with favorable prognosis and alterations in genes related to the MTOR/TSC pathway or chromatin modification.
    Journal
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    ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KMT2C (Lysine Methyltransferase 2C) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • TSC1 (TSC complex subunit 1) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • MME (Membrane Metalloendopeptidase) • KMT2B (Lysine Methyltransferase 2B) • GATA3 (GATA binding protein 3) • PAX8 (Paired box 8) • TFEB (Transcription Factor EB 2)
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    TP53 mutation
    19d
    USP21-mediated SMARCB1 stabilization under hypoxia may influence tumor progression and immune response in HCC. (PubMed, Biochem Biophys Res Commun)
    USP21 stabilizes SMARCB1 under hypoxic conditions, thereby sustaining its oncogenic and immunosuppressive activities in HCC. Targeting the USP21-SMARCB1 axis may inhibit tumor growth and enhance immunotherapy responsiveness, offering a potential therapeutic strategy for overcoming resistance in HCC treatment.
    Journal • IO biomarker
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    20d
    Unexpected Discovery of Myoepithelioma-Like Tumor of the Vulvar Region After Trauma: A Rare Case Report and Systematic Review of the Literature. (PubMed, J Cutan Pathol)
    These findings confirm the diagnosis of MELTVR. Although the biological behaviors of MELTVR remain incompletely understood, recognition of its characteristic morphologic and immunophenotypic profiles will aid in distinguishing it from potential histological mimics better.
    Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • EWSR1 (EWS RNA Binding Protein 1) • CD34 (CD34 molecule) • VIM (Vimentin) • FUS (FUS RNA Binding Protein) • GFAP (Glial Fibrillary Acidic Protein)
    21d
    Molecular classification of radiation-induced meningiomas. (PubMed, Int J Radiat Biol)
    RIMs predominantly align with the hypermetabolic molecular group, characterized by metabolic pathway activation and genomic instability. This distribution indicates a distinct molecular profile compared with sporadic meningiomas.
    Journal
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    PTEN (Phosphatase and tensin homolog) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    23d
    Research Protocol for Primary Extracranial Origin Malignant Rhabdoid Tumor (eMRT-2025) (ChiCTR2600116480)
    P=N/A, N=105, Recruiting, Beijing Childrens Hospital,Capital Medical University; Beijing Childrens Hospital,Capital Medical University
    New trial
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
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    Avastin (bevacizumab)
    23d
    Toripalimab Combined with Lenvatinib for Postoperative Adjuvant Therapy in Non-Clear Cell Renal Cell Carcinoma with High Recurrence Risk: An Evaluation of Efficacy and Safety (ChiCTR2500113091)
    P=N/A, N=60, Not yet recruiting, The Third Medical Centre, Chinese PLA General Hospital; The Third Medical Centre, Chinese PLA General Hospital
    New trial
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FH (Fumarate Hydratase) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • TFEB (Transcription Factor EB 2)
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    Lenvima (lenvatinib) • Loqtorzi (toripalimab-tpzi)
    26d
    Beyond Aqueductal Stenosis: A Case of an Atypical Teratoid/Rhabdoid Tumor Presenting With Neonatal Hydrocephalus. (PubMed, Cureus)
    We report a case of a full-term male neonate with prenatal findings of severe lateral and third ventriculomegaly, initially misdiagnosed to be due to an obstructive etiology due to hemorrhage in the fourth ventricle/aqueduct. Later, on a postnatal MRI, a non-enhancing hemorrhagic mass was suspected to be arising from the tectum, which on histopathology was confirmed to be an ATRT with loss of SMARCB1 (INI1) expression.
    Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    26d
    Clinicopathologic features of SMARCB1/INI1-deficient pancreatic undifferentiated rhabdoid carcinoma: A case report and review of literature. (PubMed, World J Gastrointest Oncol)
    This study reports a rare case of SMARCB1/INI1-deficient undifferentiated rhabdoid carcinoma of the pancreas combined with ductal adenocarcinoma, presenting as SSR - an exceptionally uncommon initial manifestation of pancreatic malignancy.
    Journal
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    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • MME (Membrane Metalloendopeptidase)
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    gemcitabine • albumin-bound paclitaxel
    27d
    Targeting CDK11 in Rhabdoid Tumor of the Kidney. (PubMed, Cancers (Basel))
    CDK11 inhibition by OTS964 effectively suppresses RTK growth through cell cycle arrest and RNA splicing inhibition, leading to apoptosis. OTS964 shows potent anti-tumor activity and tolerability, supporting CDK11 as a promising therapeutic target for RTK and related SMARCB1-deficient cancers.
    Journal
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    SF3B1 (Splicing Factor 3b Subunit 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • CASP3 (Caspase 3) • ITGAM (Integrin, alpha M) • CDK1 (Cyclin-dependent kinase 1)