ArticleNature genetics2015
SMARCA4 inactivation defines a group of undifferentiated thoracic malignancies transcriptionally related to BAF-deficient sarcomas.
Article in Nature genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 196 papers.
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Who cites it
196 citing papers in PubMed, 357 citations in OpenAlex.
- Genome-wide analyses of long noncoding RNA expression profiles in lung adenocarcinoma.Scientific reports · 2017Trial
- Knowledge gaps in tubular gut tumours: a critical appraisal of the 6th edition of the World Health Organization classification of tumours.The Journal of pathology · 2026Review
- Exploring PDLIM2 as a prognostic biomarker and therapeutic target in lung adenocarcinoma.British journal of cancer · 2026Article
- Thoracic SMARCA4-Deficient Undifferentiated Tumor Presenting as a Giant Mediastinal Mass: A Case Report.The American journal of case reports · 2026Article
- Establishment and characterization of TRI-LC21: a novel patient-derived cell line of SMARCA4-deficient undifferentiated thoracic tumor.Human cell · 2026Article
- Discovery of SMD-6346: A Potent, Selective, and Orally Active SMARCA2 Degrader for Targeting SMARCA4-Deficient Human Cancers.Journal of medicinal chemistry · 2026Article
- Bibliometric analysis and knowledge mapping of thoracic SMARCA4-deficient undifferentiated tumor.Discover oncology · 2026Article
- Peri-Implant Gingival Undifferentiated SWI/SNF Complex-Deficient Tumor with Molecularly Confirmed Biallelic SMARCA4 Inactivation: Diagnostic Pitfalls and Genomic Characterization.Diagnostics (Basel, Switzerland) · 2026Article
- Targeting the CHD3 chromatin remodeler exploits a synthetic lethal vulnerability in dual SMARCA4/SMARCA2-deficient cancers via derepression of PARD3B.NPJ precision oncology · 2026Article
- SMARCA4-deficient carcinoma of the head and neck region: report of 8 new sinonasal and non-sinonasal cases and literature review.Virchows Archiv : an international journal of pathology · 2026Review
- SMARCA4/2 loss reduces BCL-xL expression and confers a druggable MCL1 dependency in cancer.NPJ precision oncology · 2026Article
- FDG PET/CT as the Decisive Modality in Distinguishing Clear Cell Sarcoma from Melanoma When Immunohistochemistry Overlaps: A Case Report.World journal of nuclear medicine · 2026Article
- Intrathoracic Rhabdoid Tumors Showing Rapid Progress in Patients with a History of Immune-suppressive Therapies for Hematological Diseases.Internal medicine (Tokyo, Japan) · 2026Article
- SMARCA4-Deficient Carcinomas of the Small Intestine: A Systematic Review.Current oncology (Toronto, Ont.) · 2026Review
- c-JUN enhances CRISPR knockin anti-B7-H3 CAR T cell function in small cell lung cancer and thoracic SMARCA4-deficient undifferentiated tumors.Cell reports. Medicine · 2026Article
- SMARCA4-deficient undifferentiated thoracic tumors with rare nasal cavity and gluteal metastases: a case report and literature review.AME case reports · 2026Article
- First-Line Treatment of Advanced Thoracic SMARCA4-Deficient Undifferentiated Tumor: A Case Report and Review of the Literature.Case reports in oncological medicine · 2026Article
- Cavitation and durable remission in a PD-L1-positive, TP53-mutant SMARCA4-deficient lung tumor following immunochemotherapy and radiotherapy: A case report.Respiratory medicine case reports · 2026Article
- Mediastinal epithelial neoplasms with recurrent molecular alterations.Mediastinum (Hong Kong, China) · 2026Review
- Endoscopic ultrasound-guided fine-needle biopsy for diagnosis ofProceedings (Baylor University. Medical Center) · 2026Article
136 more citing papers are in PubMed but not listed here.
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Authors and funding
32 authors at 13 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
While investigating cohorts of unclassified sarcomas by RNA sequencing, we identified 19 cases with inactivation of SMARCA4, which encodes an ATPase subunit of BAF chromatin-remodeling complexes. Clinically, the cases were all strikingly similar, presenting as compressive mediastino-pulmonary masses in 30- to 35-year-old adults with a median survival time of 7 months. To help define the nosological relationships of these tumors, we compared their transcriptomic profiles with those of SMARCA4-mutated small-cell carcinomas of the ovary, hypercalcemic type (SCCOHTs), SMARCB1-inactivated malignant rhabdoid tumors (MRTs) and lung carcinomas (of which 10% display SMARCA4 mutations). Gene profiling analyses demonstrated that these tumors were distinct from lung carcinomas but related to MRTs and SCCOHTs. Transcriptome analyses, further validated by immunohistochemistry, highlighted strong expression of SOX2, a marker that supports the differential diagnosis of these tumors from SMARCA4-deficient lung carcinomas. The prospective recruitment of cases confirmed this new category of 'SMARCA4-deficient thoracic sarcomas' as readily recognizable in clinical practice, providing opportunities to tailor their therapeutic management.
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