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    BIOMARKER:

    SMARCA4 deletion

    i
    Other names: SMARCA4, SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 4, Mitotic Growth And Transcription Activator, ATP-Dependent Helicase SMARCA4, Global Transcription Activator Homologous Sequence, Transcription Activator BRG1, Sucrose Nonfermenting-Like 4, BRG1-Associated Factor 190A, Protein Brahma Homolog 1, BRM/SWI2-Related Gene 1, Homeotic Gene Regulator, Brahma Protein-Like 1, Nuclear Protein GRB1, Protein BRG-1, SNF2-Like 4, SNF2-Beta, BAF190A, SNF2L4, BRG1,BAF190, SNF2LB, HSNF2b, MRD16, RTPS2, SNF2B, CSS4, SNF2, SWI2
    Entrez ID:
    6597
    Related biomarkers:
    Expression
    Mutation
    Others
    1year
    A Study of PRT3789 in Combination With Pembrolizumab in Patients With Advanced or Metastatic Solid Tumors With a SMARCA4 Mutation (clinicaltrials.gov)
    P2, N=60, Not yet recruiting, Prelude Therapeutics
    New P2 trial
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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    SMARCA4 mutation • SMARCA4 deletion
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    Keytruda (pembrolizumab) • PRT3789
    over1year
    SMARCA4 is a haploinsufficient B cell lymphoma tumor suppressor that fine-tunes centrocyte cell fate decisions. (PubMed, Cancer Cell)
    Loss of activity for these factors phenocopied aberrant BCL6 activity within murine centrocytes and human Burkitt lymphoma cells. SMARCA4 therefore facilitates chromatin accessibility for TFs that shape centrocyte trajectories, and loss of fine-control of these programs biases toward centroblast cell-fate, GC hyperplasia and lymphoma.
    Journal
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    MYC (V-myc avian myelocytomatosis viral oncogene homolog) • BCL6 (B-cell CLL/lymphoma 6) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SPI1 (Spi-1 Proto-Oncogene)
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    MYC expression • SMARCA4 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
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    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)
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    ARID1A deletion • SMARCA4 deletion • SMARCB1 deletion • CDH1 expression • GPC3 expression • AFP expression
    2years
    Optical Genome Mapping Provides New Molecular Insights in High-Risk Mantle Cell Lymphoma: A Lysa Study (ASH 2023)
    Two patients had deletion of SMARCA4 at diagnosis, that confers resistance to the BCL-2 inhibitor venetoclax (Agarwal et al...Mutations in the NF-κB alternative pathway, responsible for resistance to ibrutinib, are found in both LR and HR patients. ConclusionIn this small cohort of MCL patients included in a trial, complex structural alterations were identified by OGM at the time of diagnosis. OGM is a very promising technology that demonstrated its potential in the cytogenetic prognostic staging of MCL.
    IO biomarker
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    TP53 (Tumor protein P53) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MTAP (Methylthioadenosine Phosphorylase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • UBR5 (Ubiquitin Protein Ligase E3 Component N-Recognin 5)
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    TP53 deletion • CDKN2A deletion • MTAP deletion • SMARCA4 deletion
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    Venclexta (venetoclax) • Imbruvica (ibrutinib)
    2years
    Primary Undifferentiated Gallbladder Carcinoma With SMARCA4 Deletion: A Case Report and Review of the Literature. (PubMed, Int J Surg Pathol)
    Conclusions. This case report contributes to the limited literature regarding undifferentiated carcinoma without SMARCA4 in the gallbladder.
    Review • Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 deletion
    over2years
    Esophageal carcinoma with SMARCA4 mutation: Unique diagnostic challenges. (PubMed, Pathol Res Pract)
    Two of the patients deceased 72 and 78 days after diagnosis, and the other two patients showed limited or no treatment response to chemotherapy. In conclusion, esophageal carcinoma with SMARCA4 mutation may pose significant diagnostic challenge for surgical pathologists due to its variable morphology and immunoprofile, and accurate classification of this entity requires recognition of the spectrum of morphology and utilization of BRG1 immunostain and next generating sequencing.
    Journal
    |
    TP53 (Tumor protein P53) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    TP53 mutation • SMARCA4 mutation • SMARCA4 deletion
    over2years
    Activity of first line immunotherapy or chemo-immunotherapy in advanced NSCLC with SMARCA4 deficiency (ESMO 2023)
    Conclusions SMARCA4d seems to negatively impact survival outcomes and the efficacy of ICB, despite high TMB. Novel treatments are rapidly needed.
    Clinical • PD(L)-1 Biomarker • IO biomarker • Metastases
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • STK11 (Serine/threonine kinase 11) • KEAP1 (Kelch Like ECH Associated Protein 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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    PD-L1 expression • TMB-H • STK11 mutation • KEAP1 mutation • SMARCA4 deletion
    over2years
    The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classification. (PubMed, Mol Genet Genomic Med)
    We propose to include RNA analysis in classification of single-exon deletions, especially if located outside of known functional domains, as this can identify any disparate effects on the RNA and DNA level, which may have implications for variant classification using the American College of Medical Genetics and Genomics guidelines.
    Journal
    |
    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 deletion
    over2years
    Undifferentiated Carcinoma of Esophagus with SMARCA4 Deletion Expressing Synaptophysin: A Potential Diagnostic Pitfall. (PubMed, Int J Surg Pathol)
    This case demonstrates that undifferentiated carcinoma of the esophagus with SMARCA4 deletion can express synaptophysin. Awareness of this entity is important for the correct classification of this tumor.
    Journal
    |
    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NCAM1 (Neural cell adhesion molecule 1) • KRT7 (Keratin-7) • CDX2 (Caudal Type Homeobox 2) • SYP (Synaptophysin)
    |
    SMARCA4 deletion
    over2years
    Combination therapy with selective SMARCA2 (BRM) degraders for treatment of SMARCA4 (BRG1)-deficient cancers (AACR 2023)
    In summary, our preclinical data suggest that potent and selective SMARCA2 targeted degraders may potentially improve patient outcomes when combined with therapeutic agents targeting the RAS/MAPK pathway and/or ICIs in SMARCA4-deleted cancers. The combination of SMARCA2 degraders with standard of care agents warrants further investigation as a potential novel, effective, and highly targeted combination approach.
    Combination therapy • IO biomarker
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    KRAS (KRAS proto-oncogene GTPase) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
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    KRAS mutation • SMARCA4 mutation • SMARCA4 deletion • KRAS deletion • KRAS expression