ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2022
Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 17 citations in OpenAlex.
- Re-appraisal of the Diagnostic Value of PAS-D Staining in TTF-1-NEGATIVE NSCLC Subclassification: A Large Real-World Cohort Study.Pathology international · 2026Article
- SWI/SNF-Deficient Sinonasal Carcinomas: A Retrospective Case Series of 17 Patients from a Single Institution.Journal of clinical medicine · 2026Article
- Cytopathologic Features of Metastatic Malignant Mesothelioma With SMARCB1 (INI-1) Deficient Diagnosed by Ultrasound-Guided Fine-Needle Aspiration: A Case Report.Diagnostic cytopathology · 2026Article
- Intrathoracic Rhabdoid Tumors Showing Rapid Progress in Patients with a History of Immune-suppressive Therapies for Hematological Diseases.Internal medicine (Tokyo, Japan) · 2026Article
- INI1-Deficient malignancy involving the pancreas and jejunum: Expanding the clinical spectrum.Radiology case reports · 2026Article
- A New WHO Entity of SMARCB1/INI1-Deficient Undifferentiated Thoracic Tumors: Rare, Aggressive, and Overlooked.Cureus · 2025Article
- Metastatic INI-1-deficient undifferentiated lung cancer with EGFR 19del mutation identified in pleural effusion: a case report and review of the literature.Frontiers in oncology · 2025Article
- Case Report: FAPFrontiers in immunology · 2025Article
- Molecular and Treatment Characteristics of SMARCB1 or SMARCA4-Deficient Undifferentiated Tumor: Retrospective Case Series.Cancer research and treatment · 2024Article
- SMARCB1/INI1-deficient undifferentiated tumour of the thorax: a case report and review of the literature.Pathologica · 2024Review
- Article
- STK11 loss and SMARCB1 deficiency mutation in a dedifferentiated lung cancer patient present response to neo-adjuvant treatment with pembrolizumab and platinum doublet: A case report.Frontiers in oncology · 2023Article
- A Case of an SMARCB1 (INI1)-Deficient Intrathoracic Neoplasm That Did Not Respond to Chemotherapy for Non-Small Cell Lung Cancer and Rapidly Progressed.Case reports in oncologyArticle
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The switch/sucrose-non-fermenting (SWI/SNF) complex is an ATP-dependent chromatin remodeling complex that plays important roles in DNA repair, transcription and cell differentiation. This complex consists of multiple subunits and is of particular interest in thoracic malignancies due to frequent subunit alteration of SMARCA4 (BRG1). Much less is known about SMARCB1 (INI1) deficient intrathoracic neoplasms, which are rare, often misclassified and understudied. In a retrospective analysis of 1479 intrathoracic malignant neoplasms using immunohistochemistry for INI1 (SMARCB1) on tissue micro arrays (TMA) and a search through our hospital sarcoma database, we identified in total nine intrathoracic, INI1 deficient cases (n = 9). We characterized these cases further by additional immunohistochemistry, broad targeted genomic analysis, methylation profiling and correlated them with clinical and radiological data. This showed that genomic SMARCB1 together with tumor suppressor alterations drive tumorigenesis in some of these cases, rather than epigenetic changes such as DNA methylation. A proper diagnostic classification, however, remains challenging. Intrathoracic tumors with loss or alteration of SMARCB1 (INI1) are highly aggressive and remain often underdiagnosed due to their rarity, which leads to false diagnostic interpretations. A better understanding of these tumors and proper diagnosis is important for better patient care as clinical trials and more targeted therapeutic options are emerging.
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