^
    Contact us  to learn more about
    our Premium Content:  News alerts, weekly reports and conference planners
    BIOMARKER:

    SMARCB1 deletion

    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
    Entrez ID:
    6598
    Related biomarkers:
    Expression
    Mutation
    Others
    1year
    SMARCB1-deficient malignant neoplasm of the pancreas with heterogeneous morphologies that cannot be classified into existing histologic types. (PubMed, Pathol Int)
    Based on the morphologic, immunohistochemical, and molecular analyzes, the present case was difficult to classify into any of the existing entities. SMARCB1 deficiency might play a key role in the tumorigenesis.
    Journal
    |
    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    SMARCB1 deletion
    1year
    Primary adenocarcinoma of the spermatic cord: a case report and review of the literature. (PubMed, Diagn Pathol)
    We reported the first case of primary adenocarcinoma of the spermatic cord with SMARCB1 (INI-1) deficiency. This case contributes to the expanding understanding of rare neoplasms and underscores the importance of further research into therapeutic strategies targeting SMARCB1-deficient tumors.
    Review • Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • WT1 (WT1 Transcription Factor) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • NKX2-1 (NK2 Homeobox 1) • KRT19 (Keratin 19) • NAPSA (Napsin A Aspartic Peptidase) • PAX8 (Paired box 8) • NKX3-1 (NK3 homeobox 1)
    |
    TMB-L • SMARCB1 deletion
    almost2years
    Targeting cholesterol biosynthesis for AT/RT: comprehensive expression analysis and validation in newly established AT/RT cell line. (PubMed, Hum Cell)
    Simvastatin was highly sensitive against MZ611ATRT cells and induced apoptosis (IC50 was 3.098 µM for MZ611ATRT, 41.88uM for U-87 MG, 23.34uM for IOMM-Lee, and 18.12uM for U-251 MG.). Pathways involved in cholesterol biosynthesis may be new targets for adjuvant therapy of AT/RT.
    Preclinical • Journal
    |
    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    SMARCB1 deletion
    almost2years
    Clinicopathological features of gastric alpha-fetoprotein-producing adenocarcinoma with SWI/SNF complex deletion (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Postoperative adjuvant chemotherapy was given to three patients. AFP-producing adenocarcinoma is a rare subtype of gastric cancer, which can be combined with SWI/SNF complex deletion, and the pathomorphological manifestations are different from the classical SWI/SNF complex deletion of undifferentiated carcinoma with rhabdoid phenotype.
    Journal
    |
    HER-2 (Human epidermal growth factor receptor 2) • ARID1A (AT-rich interaction domain 1A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDH1 (Cadherin 1) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • AFP (Alpha-fetoprotein) • GPC3 (Glypican 3) • SALL4 (Spalt Like Transcription Factor 4) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
    |
    ARID1A deletion • SMARCA4 deletion • SMARCB1 deletion • CDH1 expression • GPC3 expression • AFP expression
    almost2years
    SMARCB1-deficient sinonasal adenocarcinoma: a rare variant of SWI/SNF-deficient malignancy often misclassified as high-grade non-intestinal-type sinonasal adenocarcinoma or myoepithelial carcinoma. (PubMed, Virchows Arch)
    The original diagnosis was usually high-grade non-intestinal-type adenocarcinoma or high-grade myoepithelial carcinoma. A correct diagnosis of these aggressive tumors could lead to improved targeted therapies with potentially better overall disease-specific survival.
    Journal
    |
    ER (Estrogen receptor) • POLE (DNA Polymerase Epsilon) • 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) • ARID1B (AT-Rich Interaction Domain 1B) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2) • PAX3 (Paired Box 3)
    |
    POLE mutation • ER mutation • ESR1 mutation • ARID1B mutation • SMARCB1 deletion • SMARCB1 mutation
    2years
    Head and neck INI1-deficient carcinoma without primary: a case report. (PubMed, J Med Case Rep)
    Research of INI1 deletion should be performed for undifferentiated carcinoma of young patients because of possibilities of molecular therapies such as autophagy inhibitors or proteasome inhibitors could be used in clinical trials.
    Journal
    |
    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    SMARCB1 deletion
    2years
    Epithelioid sarcoma following radiation therapy? A case report and review of the literature (ASDP 2023)
    We present this case as well as a review of the literature regarding etiologic associations with ES. Poster type: Poster Defense
    Clinical • Review
    |
    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) • CD34 (CD34 molecule) • VIM (Vimentin)
    |
    SMARCB1 deletion
    over2years
    MULTIOMICS PROFILING OF EPITHELIOID SARCOMA UNVEILS EPIGENETIC CIRCUITRIES THAT UNDERLIE THE PATHOBIOLOGY OF PROXIMAL AND CLASSIC SUBTYPES: RESULTS FROM THE ISG EPISOBS OBSERVATIONAL STUDY (CTOS 2023)
    This multiomics study supports the notion that P-ES and C-ES are distinct molecular entities, characterized by a different degree of phenotypic drift form the mesenchymal makeup and marked by different DNA methylation and miRNA:gene circuitries. The transcriptional profile of P-ES suggests that biology rather than anatomic location sustains its poorer outcome. Our study unveiled also novel immunohistochemical markers that might aid in the differential diagnosis of P-ES and C-ES, thus serving as potential tools of patient stratification in future studies.
    Clinical • Observational data
    |
    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    SMARCB1 deletion
    over2years
    SMARCB1/INI1 loss in skull base conventional chordomas: a clinicopathological and molecular analysis. (PubMed, Front Oncol)
    Partial loss of SMARCB1/INI1, secondary to heterozygous deletion and/or copy number gain of SMARCB1, is not peculiar of aggressive forms, but can be identified by immunohistochemistry in a significant portion of conventional skull base chordomas, including the chondroid subtype. The variable protein expression does not appear to correlate with clinicopathological parameters, nor survival outcomes, but still, it could have therapeutic implications.
    Journal
    |
    SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    SMARCB1 deletion
    over2years
    Primary intracranial sarcomas: a clinicopathological investigation. (PubMed, Front Oncol)
    Patients who underwent GTR of these lesions showed improved survival rates. Recent advancements in NGS aided in the identification of diagnostic and therapeutic PIS-relevant targets.
    Journal
    |
    PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KDR (Kinase insert domain receptor) • PBRM1 (Polybromo 1) • BAP1 (BRCA1 Associated Protein 1) • TOP2A (DNA topoisomerase 2-alpha) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1)
    |
    NRAS mutation • PIK3CA mutation • PBRM1 mutation • BAP1 mutation • SMARCB1 deletion • BLM mutation
    over2years
    Molecular and functional heterogeneity of primary pancreatic neuroendocrine tumors and the metastases. (PubMed, Neuroendocrinology)
    Metastases exhibited a certain extent of genomic and transcriptomic diversity from primary PanNETs. TP53 and KRAS mutation in primary samples might associate with metastasis and contribute to a poorer prognosis. A high fraction of novel targetable alterations enriched in metastases deserves to be validated in advanced PanNETs.
    Journal
    |
    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MET (MET proto-oncogene, receptor tyrosine kinase) • PTEN (Phosphatase and tensin homolog) • RB1 (RB Transcriptional Corepressor 1) • ARID1A (AT-rich interaction domain 1A) • KMT2D (Lysine Methyltransferase 2D) • CDK4 (Cyclin-dependent kinase 4) • TSC2 (TSC complex subunit 2) • SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1) • FAT1 (FAT atypical cadherin 1) • TGFB1 (Transforming Growth Factor Beta 1)
    |
    TP53 mutation • KRAS mutation • MET amplification • EGFR amplification • ATM mutation • PTEN mutation • ARID1A mutation • TP53 mutation + KRAS mutation • TSC2 mutation • SMARCB1 deletion