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GENE:

SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)

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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
12d
A Rare SMARCA4-Deficient Subglottic Adenoid Cystic Carcinoma With Early Pulmonary Metastasis. (PubMed, Laryngoscope)
Despite presenting with locally advanced pT4a disease and early pulmonary metastasis, the patient achieved 5-year local control following total laryngectomy and adjuvant radiotherapy. The findings suggest that molecular profiling can identify non-MYB-driven subtypes and guide individualized management for atypical laryngeal malignancies.
Journal
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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
13d
Case Report: A successfully managed case of SMARCA4-deficient undifferentiated gastric carcinoma. (PubMed, Front Oncol)
The regimen included ifosfamide, liposomal doxorubicin hydrochloride, cadonilimab, and anlotinib capsules...Here we present a successfully treated case of this tumor type originating in the stomach. This case may serve as a reference for future management of such tumors.
Journal
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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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Focus V (anlotinib) • ifosfamide • Kaitanni (cadonilimab)
14d
Clinical and Pathological Characteristics of Stage IV SMARCA4-Deficient Lung Cancer and the Efficacy of Immune Checkpoint Inhibitors. (PubMed, Clin Oncol (R Coll Radiol))
SMARCA4 deficiency defined an aggressive subset of lung cancer characterised by distinct clinicopathological features and was associated with significantly shorter median OS than SMARCA4-proficient tumours. ICI-based therapy may significantly improve survival outcomes in SMARCA4-deficient patients, supporting its prioritisation in this high-risk population.
Journal • Checkpoint inhibition • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NKX2-1 (NK2 Homeobox 1) • NAPSA (Napsin A Aspartic Peptidase)
14d
First-Line Treatment of Advanced Thoracic SMARCA4-Deficient Undifferentiated Tumor: A Case Report and Review of the Literature. (PubMed, Case Rep Oncol Med)
The genetic test map suggested high PD-L1 expression (TPS 80%) and the patient was treated with sindilizumab (200 mg q3w) combined with bevacizumab (500 mg q3w). During follow-up, the patient achieved a final OS of 18 months. This case suggests that PD-1 inhibitors combined with antiangiogenic therapy may improve the prognosis of SMARCA4-UT, but the adverse effects observed during the treatment course demanded equally critical attention.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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PD-L1 expression • PD-L1 overexpression
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Avastin (bevacizumab) • Tyvyt (sintilimab)
14d
Analysis of clinical and genomic features in a Chinese cohort with NRG1 variations: a retrospective study. (PubMed, Transl Lung Cancer Res)
This study revealed the distinct clinicogenomic landscapes of NRG1 fusions and SNVs in NSCLC. These findings emphasize the important role of molecular profiling for precision diagnosis and individualized treatment of NSCLC.
Retrospective data • Journal • Tumor mutational burden • IO biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • ARID1A (AT-rich interaction domain 1A) • NRG1 (Neuregulin 1) • CD74 (CD74 Molecule) • KMT2A (Lysine Methyltransferase 2A) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • SETD2 (SET Domain Containing 2, Histone Lysine Methyltransferase)
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KRAS mutation • EGFR mutation • TMB-H • ARID1A mutation • NRG1 fusion
14d
SMARCA4/2 loss reduces BCL-xL expression and confers a druggable MCL1 dependency in cancer. (PubMed, NPJ Precis Oncol)
Furthermore, single-agent treatment of S63845 resulted in significant suppression of tumor growth in patient-derived xenografts of SMARCA4/2-deficient NSCLC and SCCOHT. Collectively, our work uncovered MCL1 as a synthetic lethal target in SMARCA4/2-deficient cancers that may be exploited therapeutically.
Journal • IO biomarker
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BCL2 (B-cell CLL/lymphoma 2) • MCL1 (Myeloid cell leukemia 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • BCL2L1 (BCL2-like 1) • SMARCA2 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily A, Member 2)
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S63845
15d
SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review. (PubMed, Virchows Arch)
These tumors are highly aggressive and often present at advanced stages. In the sinonasal region, they can mimic olfactory neuroblastoma, while in other H&N sites, they can resemble neuroendocrine carcinoma.
Journal
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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
16d
Neuro-immune-related gene signatures define molecular subtypes and prognostic score in bladder cancer with SERPINE2 as a potential therapeutic target. (PubMed, PeerJ)
Moreover, genome-wide association studies (GWAS) suggested that genetic variants in SERPINE2 and related genes may increase bladder cancer susceptibility. Collectively, our findings provide novel insights into neuro-immune-driven tumor heterogeneity and immune remodeling, establish the NAS model as an innovative prognostic tool, and identify SERPINE2 as a promising therapeutic target for precision management of bladder cancer.
Journal • Gene Signature
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SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • EGF (Epidermal growth factor) • FGF (Fibroblast Growth Factor) • TGFB1 (Transforming Growth Factor Beta 1) • NXPH4 (Neurexophilin 4)
16d
Cavitation and durable remission in a PD-L1-positive, TP53-mutant SMARCA4-deficient lung tumor following immunochemotherapy and radiotherapy: A case report. (PubMed, Respir Med Case Rep)
After six cycles of tislelizumab + paclitaxel/cisplatin, the lesion demonstrated partial remission and progressive cavitation on CT imaging. This case highlights that PD-L1 expression and radiologic cavitation may serve as potential efficacy biomarkers in SMARCA4-UTs, even in tumors with TP53 mutations and a high proliferative index. Combined immunotherapy with chemotherapy and radiotherapy may confer durable disease control in this aggressive lung cancer subtype.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4)
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PD-L1 expression • TP53 mutation
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cisplatin • paclitaxel • Tevimbra (tislelizumab-jsgr)
17d
Prognostic stratification value of MLH1 promoter methylation in endometrioid endometrial carcinomas with a dMMR molecular phenotype (PubMed, Zhonghua Bing Li Xue Za Zhi)
The methylation status of the MLH1 promoter has limited value in predicting the prognosis of dMMR EEC. Molecular pathways heterogeneity between the methylated and nonmethylated subgroups suggests the necessity of integrate multi-dimensional indicators to optimize stratification strategies, instead of relying on a single epigenetic marker.
Journal • dMMR
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NF1 (Neurofibromin 1) • MLH1 (MutL homolog 1) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • FOXA1 (Forkhead Box A1) • SOX2 • CCL21 (C-C Motif Chemokine Ligand 21) • CHD4 (Chromodomain Helicase DNA Binding Protein 4)
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MSI-H/dMMR • MET expression