SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature
SWItch/Sucrose Non-Fermentable (SWI/SNF) is a large protein complex with a central role in chromatin remodeling and genome transcription. The catalytic subunits of the SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 (SWI/SNF SMARCA2; also called BRM) and SWI/SNF related BAF chroma...
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Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2025-01-01
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| Series: | Biomolecules & Biomedicine |
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| Online Access: | https://www.bjbms.org/ojs/index.php/bjbms/article/view/11154 |
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| author | Andreas M. Matthaiou Ioannis Tomos Nikoleta Bizymi Ioannis Vamvakaris Nektarios Anagnostopoulos Aikaterini Papadopoulou Kalliopi Angelou Grigoris Stratakos Adamantia Liapikou |
| author_facet | Andreas M. Matthaiou Ioannis Tomos Nikoleta Bizymi Ioannis Vamvakaris Nektarios Anagnostopoulos Aikaterini Papadopoulou Kalliopi Angelou Grigoris Stratakos Adamantia Liapikou |
| author_sort | Andreas M. Matthaiou |
| collection | DOAJ |
| description |
SWItch/Sucrose Non-Fermentable (SWI/SNF) is a large protein complex with a central role in chromatin remodeling and genome transcription. The catalytic subunits of the SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 (SWI/SNF SMARCA2; also called BRM) and SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 (SMARCA4; also called BRG1) are encoded by the SMARCA2 and SMARCA4 genes, respectively, and are mutually exclusive. Loss of either SMARCA2 and/or SMARCA4 has been previously reported in several types of malignant solid tumors of the gastrointestinal and genitourinary tract. So far, their absence in non-small cell lung cancer has been observed in a series of studies involving primary tumors and cell lines, where it is associated with loss of differentiation and heightened tumorigenic potential leading to an unfavorable prognosis. SMARCA2 and SMARCA4 deficiency is frequent in solid predominant adenocarcinomas and tumors with low levels of bronchial epithelial markers, including thyroid transcription factor 1. A rare case of SMARCA4 deficiency in small cell lung cancer is described. A 57-year-old male patient, with no medical history of past illness, was admitted to our center for the investigation and management of a space-occupying lesion in the right upper lung lobe with tracheal and mediastinal infiltration. Biopsy of a lymph node in the right supraclavicular region was diagnostic for small cell lung cancer with regional loss of SMARCA4. The patient demonstrated progressive respiratory failure and clinical deterioration and eventually deceased despite intubation and transfer to the intensive care unit. This case indicates that SMARCA4-deficient small cell lung cancer may present with an aggressively deteriorating phenotype with poor outcomes for the patie
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| format | Article |
| id | doaj-art-7aa0860673a84b05901cd3579a1ae599 |
| institution | Kabale University |
| issn | 2831-0896 2831-090X |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina |
| record_format | Article |
| series | Biomolecules & Biomedicine |
| spelling | doaj-art-7aa0860673a84b05901cd3579a1ae5992025-01-30T16:41:56ZengAssociation of Basic Medical Sciences of Federation of Bosnia and HerzegovinaBiomolecules & Biomedicine2831-08962831-090X2025-01-0110.17305/bb.2024.11154SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literatureAndreas M. Matthaiou0https://orcid.org/0000-0003-1941-0213Ioannis Tomos1https://orcid.org/0000-0002-9978-4823Nikoleta Bizymi2https://orcid.org/0000-0001-5199-1519Ioannis Vamvakaris3https://orcid.org/0000-0002-2917-7155Nektarios Anagnostopoulos4Aikaterini Papadopoulou5Kalliopi Angelou6Grigoris Stratakos7Adamantia Liapikou85th Department of Respiratory Medicine, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece; Laboratory of Molecular and Cellular Pneumonology, Medical School, University of Crete, Heraklion, Greece; Respiratory Physiology Laboratory, Medical School, University of Cyprus, Nicosia, Cyprus5th Department of Respiratory Medicine, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece5th Department of Respiratory Medicine, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece; Laboratory of Molecular and Cellular Pneumonology, Medical School, University of Crete, Heraklion, GreeceLaboratory of Pathology, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece1st Respiratory Medicine Department of the National and Kapodistrian University of Athens, Sotiria Thoracic Diseases General Hospital of Athens, Athens, GreeceLaboratory of Pathology, Sotiria Thoracic Diseases General Hospital of Athens, Athens, GreeceNew Intensive Care Unit, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece1st Respiratory Medicine Department of the National and Kapodistrian University of Athens, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece5th Department of Respiratory Medicine, Sotiria Thoracic Diseases General Hospital of Athens, Athens, Greece SWItch/Sucrose Non-Fermentable (SWI/SNF) is a large protein complex with a central role in chromatin remodeling and genome transcription. The catalytic subunits of the SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 (SWI/SNF SMARCA2; also called BRM) and SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 (SMARCA4; also called BRG1) are encoded by the SMARCA2 and SMARCA4 genes, respectively, and are mutually exclusive. Loss of either SMARCA2 and/or SMARCA4 has been previously reported in several types of malignant solid tumors of the gastrointestinal and genitourinary tract. So far, their absence in non-small cell lung cancer has been observed in a series of studies involving primary tumors and cell lines, where it is associated with loss of differentiation and heightened tumorigenic potential leading to an unfavorable prognosis. SMARCA2 and SMARCA4 deficiency is frequent in solid predominant adenocarcinomas and tumors with low levels of bronchial epithelial markers, including thyroid transcription factor 1. A rare case of SMARCA4 deficiency in small cell lung cancer is described. A 57-year-old male patient, with no medical history of past illness, was admitted to our center for the investigation and management of a space-occupying lesion in the right upper lung lobe with tracheal and mediastinal infiltration. Biopsy of a lymph node in the right supraclavicular region was diagnostic for small cell lung cancer with regional loss of SMARCA4. The patient demonstrated progressive respiratory failure and clinical deterioration and eventually deceased despite intubation and transfer to the intensive care unit. This case indicates that SMARCA4-deficient small cell lung cancer may present with an aggressively deteriorating phenotype with poor outcomes for the patie https://www.bjbms.org/ojs/index.php/bjbms/article/view/11154SWItch/Sucrose Non-FermentableSWI/SNFSWI/SNF related BAF chromatin remodeling complex subunit ATPase 2SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4SMARCA4 |
| spellingShingle | Andreas M. Matthaiou Ioannis Tomos Nikoleta Bizymi Ioannis Vamvakaris Nektarios Anagnostopoulos Aikaterini Papadopoulou Kalliopi Angelou Grigoris Stratakos Adamantia Liapikou SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature Biomolecules & Biomedicine SWItch/Sucrose Non-Fermentable SWI/SNF SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 SMARCA4 |
| title | SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature |
| title_full | SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature |
| title_fullStr | SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature |
| title_full_unstemmed | SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature |
| title_short | SMARCA4 deficiency in small cell lung cancer: A case report and narrative review of the literature |
| title_sort | smarca4 deficiency in small cell lung cancer a case report and narrative review of the literature |
| topic | SWItch/Sucrose Non-Fermentable SWI/SNF SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 SMARCA2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 SMARCA4 |
| url | https://www.bjbms.org/ojs/index.php/bjbms/article/view/11154 |
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