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    BIOMARKER:

    SMARCA4 mutation

    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
    CNA
    Others
    11ms
    A retrospective study of the efficacy and safety of immune checkpoint inhibitors combined with chemotherapy for the treatment of SMARCA4-deficient thoracic tumors. (PubMed, Transl Lung Cancer Res)
    No treatment-related AEs led to patient fatalities. The combination of ICIs and chemotherapy is more effective than chemotherapy for patients with advanced SMARCA4-deficient thoracic tumors (SMARCA4-dTT), and the safety is manageable.
    Retrospective data • Journal • Checkpoint inhibition • IO biomarker
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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
    11ms
    Genomic profiling reveals SMARCA4 mutations are associated with shorter overall and intracranial progression free survival in melanoma brain metastasis patients. (PubMed, Clin Cancer Res)
    Pathogenic SMARCA4 mutations independently predict an association with shorter OS and intracranial PFS in MBM patients and associate with expression of pathways known to mediate melanoma virulence. These findings add to our understanding of MBM pathogenesis and suggest their potential use as prognostic biomarkers and possible therapeutic opportunities.
    Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 mutation
    11ms
    Long-term follow-up of combination therapy with pembrolizumab and anlotinib in thoracic SMARCA4-deficient undifferentiated tumor: a case report and molecular features. (PubMed, Front Oncol)
    The patient subsequently received chemotherapy with pemetrexed and carboplatin. This case offers a long-term follow-up of the effectiveness and safety of combining pembrolizumab and anlotinib in advanced SMARCA4-UT, and substantiates the role of long-term immunotherapy in preventing radiographic/clinical recurrence following surgery. This case illustrates new potential efficacy of immunotherapy in combination with surgery as a treatment approach of SMARCA4-UT.
    Journal • PD(L)-1 Biomarker • IO biomarker
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    PD-L1 (Programmed death ligand 1) • TMB (Tumor Mutational Burden) • 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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    TMB-H • SMARCA4 mutation
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    PD-L1 IHC 22C3 pharmDx
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    Keytruda (pembrolizumab) • carboplatin • Focus V (anlotinib) • pemetrexed
    12ms
    Efficacy, safety, and biomarker analysis of first-line immune checkpoint inhibitors with chemotherapy versus chemotherapy for advanced gastric cancer: a multicenter, retrospective cohort study. (PubMed, BMC Med)
    Adding ICIs to first-line treatment significantly prolongs survival in overall patients and in those with PD-L1 CPS 1-4 or unknown. This study also provides valuable insights into prognostic markers and resistance mechanisms, potentially guiding immunotherapy strategies.
    Retrospective data • Journal • Checkpoint inhibition • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • BRCA2 (Breast cancer 2, early onset) • CCNE1 (Cyclin E1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • ZFHX3 (Zinc Finger Homeobox 3)
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    BRCA2 mutation • HER-2 negative • SMARCA4 mutation
    12ms
    PIK3CA Mutations and Co-Mutations in Operated Non-Small Cell Lung Carcinoma. (PubMed, J Clin Med)
    The top 10 mutations that most commonly accompanied PIK3CA variations were KRAS, NF1, TP53, EGFR, PTEN, BRAF, KIT, CDKN2A, SMARCA4, and ATM mutations, respectively. PIK3CA variations, along with other gene variations, may influence cancer progression and thus may play a crucial role in the determination of targeted treatment strategies.
    Journal
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    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • ATM (ATM serine/threonine kinase) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • NF1 (Neurofibromin 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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    TP53 mutation • KRAS mutation • BRAF mutation • PIK3CA mutation • ATM mutation • PIK3CA H1047R • PTEN mutation • PIK3CA E545K • CDKN2A mutation • SMARCA4 mutation • PIK3CA E545 • PIK3CA E542
    12ms
    Small cell carcinoma of the ovary of hypercalcaemic type: a clinicopathological analysis of sixteen cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    The typical age distribution, a panel of various staining results, especially concomitant loss of BRG1 and BRM may be of diagnostic aid and can be used to distinguish SCCOHT from its histological mimics. After the diagnosis of SCCOHT, genetic testing and genetic counseling are recommended.
    Journal
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    TP53 (Tumor protein P53) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • WT1 (WT1 Transcription Factor) • SALL4 (Spalt Like Transcription Factor 4) • FOXL2 (Forkhead Box L2)
    |
    TP53 mutation • SMARCA4 mutation • WT1 positive
    1year
    Interferon response and epigenetic modulation by SMARCA4 mutations drive ovarian tumor immunogenicity. (PubMed, Sci Adv)
    Mouse ovarian and melanoma tumors with SMARCA4 loss demonstrated increased infiltration and activation of cytotoxic T cells, NK cells, and myeloid cells in the tumor microenvironment. These results were recapitulated in BRG1 inhibitor-treated SMARCA4-proficient tumor models, suggesting that modulation of chromatin remodeling through targeting SMARCA4 may serve as a strategy to overcome cancer immune evasion.
    Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • STING (stimulator of interferon response cGAMP interactor 1) • IFNAR2 (Interferon Alpha And Beta Receptor Subunit 2)
    |
    SMARCA4 mutation
    1year
    Discovery of Potent, Highly Selective, and Efficacious SMARCA2 Degraders. (PubMed, J Med Chem)
    We further highlight the optimization of the pharmacokinetic profile of a subset of compounds leading to potent and selective degradation of SMARCA2 in the xenograft model. These compounds provide valuable tools with desirable properties for continued exploration of the biology defining the susceptibility of SMARCA4 mutant cancers to selective loss of SMARCA2.
    Journal
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    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)
    |
    SMARCA4 mutation
    1year
    Hypercalcemic Ovarian Carcinoma (Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT)): A Case Series and Review of Literature of a Rare Malignancy. (PubMed, Indian J Surg Oncol)
    The first patient started with paclitaxel plus carboplatin and the second patient started with gemcitabine plus docetaxel. Early diagnosis and proper treatment may prolong survival. There is a need for evaluation of the possible role of targeted systemic therapeutic options as the conventional regimens are rarely sufficient.
    Review • Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 mutation
    |
    carboplatin • gemcitabine • paclitaxel • docetaxel
    1year
    SMARCA4-Deficient Undifferentiated Gallbladder Cancer: A Case Report and Review of the Literature. (PubMed, Int J Surg Pathol)
    There are currently very few reports related to this tumor worldwide, and protocols for diagnosis and treatment are limited. Therefore, we collected and analyzed clinical data from this patient, along with relevant literature, to create a comprehensive summary.
    Review • Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 mutation
    1year
    A case report of SMARCA4-deficient gastric cancer and review of the literature. (PubMed, SAGE Open Med Case Rep)
    The tumor exhibits a poor response to conventional chemotherapy and has a poor prognosis; therefore, correct diagnosis is necessary. Moreover, new therapies such as EZH2 inhibitors and etoposide should be considered in cases where conventional chemotherapy is ineffective.
    Review • Journal
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    SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
    |
    SMARCA4 mutation
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    etoposide IV
    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)
    |
    SMARCA4 mutation • SMARCA4 deletion
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    Keytruda (pembrolizumab) • PRT3789