SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3)

This molecular signature implies potential synergistic effects between chromatin instability, compromised DNA damage repair mechanisms, and augmented immunogenicity. Through comprehensive genomic analysis, we elucidate the biological significance of this mutational landscape and discuss its therapeutic implications, aiming to advance precision diagnosis and guide innovative treatment strategies for SMARCA4-DNSCLC.

There is currently no standard drug treatment regimen for SMARCA4-dTTs, but patients who receive treatment derive some survival benefits. Future research is needed to explore more effective treatment strategies.

Everolimus is an mammalian target of rapamycin (mTOR) inhibitor used in combination with exemestane for metastatic ER+BC. Combining trametinib with everolimus treatment significantly reduces resistant cell growth. Our results demonstrate that everolimus-resistant ER+BC cells evade therapy via alternate growth-factor signaling linked to activation of SMARCD3 regulons, which can be therapeutically targeted using MEK1/2 inhibitors.

Expression heterogeneity of epigenetic regulators is closely associated with molecular subgroups and clinical outcomes in medulloblastoma. These findings highlight the role of epigenetic dysregulation in RNA metabolism and tumor progression, particularly in SHH-driven proliferative cells.

PI3K dependency was tested using the inhibitor LY294002... SMARCD3 acts as a critical epigenetic regulator that promotes EMT in patients with gastric cancer through the integration of the PI3K-AKT and WNT/β-catenin pathways. Targeting this SMARCD3-mediated mechanism offers a promising therapeutic strategy to inhibit metastasis and improve outcomes for patients with gastric cancer.

The patient received postoperative radiotherapy, and emerging data suggest potential benefit from multimodal approaches including surgery, radiotherapy, chemotherapy, and targeted therapies such as mechanistic target of rapamycin (mTOR), enhancer of zeste homolog 2 (EZH2), and cyclin dependent kinase 4/6 (CDK4/6) inhibitors. This report stresses the need to consider AT/RT in the differential diagnosis of adult intradural extramedullary spinal lesions and reinforces the diagnostic utility of SMARCB1 (INI1) immunohistochemistry. Molecular subtyping may further guide therapeutic decisions and improve prognostication in this rare and challenging tumor.

After confirming SMARCA4-DUC, she underwent extensive open surgery followed by postoperative adjuvant paclitaxel-carboplatin chemotherapy. He completed several cycles of adjuvant XELOX, without recurrence. CONCLUSIONS These 2 cases of SMARCA4-DUC of the stomach underscore the importance of molecular diagnostics and multidisciplinary management to avoid delayed diagnosis and to establish appropriate therapeutic strategies.

The patient underwent systemic treatment with carboplatin, paclitaxel, and pembrolizumab, complicated by refeeding syndrome, perforated appendicitis, and pulmonary embolism. Despite this, he achieved complete remission after six cycles and continues on maintenance pembrolizumab. This case illustrates the potential for durable response with chemoimmunotherapy in this rare and aggressive malignancy, even when presenting in atypical anatomic locations.

In this review, we explore the biological impact of KEAP1, SMARCA4, and PTEN mutations on the immune landscape of NSCLC, their implications for immunotherapy resistance, and potential strategies to overcome these barriers. As precision oncology advances, identifying therapeutic vulnerabilities in these genetically defined subgroups will be critical to improving patient outcomes and expanding the efficacy of immunotherapy in NSCLC.

However, resected schwannomas showed 10-60% mosaic loss of nuclear SMARCB1 protein, with protein assays confirming low SMARCB1 levels, particularly in the distal thigh schwannoma. This case highlights the tumorigenic potential of SMARCB1 single nucleotide polymorphisms, emphasizing the need for multimodal diagnosis, long-term follow-up, awareness of recurrence and malignancy, and timely surgical planning in schwannomatosis patients.

This case represents the first reported instance of SMARCA4-dNSCLC with metastasis to the sigmoid colon. The atypical clinical and radiological features of this condition pose significant diagnostic challenges, particularly in differentiating metastatic lesions from primary colonic tumors. This case underscores the significance of recognizing rare metastatic patterns in SMARCA4-dNSCLC, enriching the literature on its diverse manifestations and providing a critical reference for clinicians in diagnosing and managing SMARCA4-dNSCLC with sigmoid colon metastasis.

Specifically, SMARCA4-BRD4 enhancer controls lncRNAs important in interferon response factor 1 autoregulation. These data indicate how SWI/SNF ATPases couple BRD4 to lncRNA expression controlling cell state and intrinsic immunity in epithelial injury-repair.