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SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature
Among thoracic tumors, these include subsets of a relatively newly described and yet to be fully characterized tumor entity: SMARCA4-deficient Undifferentiated Tumor (SMARCA4-dUT). Mutations of SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978313/ https://www.ncbi.nlm.nih.gov/pubmed/35356840 http://dx.doi.org/10.1177/23247096221074864 |
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author | Yadav, Ruchi Sun, Lishi Salyana, Muhammad Eric, Minkin Gotlieb, Vladimir Wang, Jen C. |
author_facet | Yadav, Ruchi Sun, Lishi Salyana, Muhammad Eric, Minkin Gotlieb, Vladimir Wang, Jen C. |
author_sort | Yadav, Ruchi |
collection | PubMed |
description | Among thoracic tumors, these include subsets of a relatively newly described and yet to be fully characterized tumor entity: SMARCA4-deficient Undifferentiated Tumor (SMARCA4-dUT). Mutations of SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4) gene and loss of BRG1 (Brahma-related gene-1) is the underlying molecular hallmark of SMARCA4-dUT. They mostly involved the mediastinum, lung, and/or pleura showing undifferentiated round cell or rhabdoid morphology associated with aggressive clinical behavior. The pathogenesis of these tumors is still not clear. Morphologically, SMARAC4-dUT is differentiated from SMARCA4-dNSCLC by the presence of squamous and solid components in the latter. Immunohistochemically SMARC4-dUT has characteristic loss of SMARCA4 and SMARCA2 and strong expression of SOX2, CD34, and SALL4. Common sites of metastasis include lymph nodes, bones, and adrenal glands but rarely brain metastasis. We present a unique and rare case of a 76-year-old male with a right lung mass with documented pathology of SMARCA4-dUT and was found to have multiple brain metastases. |
format | Online Article Text |
id | pubmed-8978313 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-89783132022-04-05 SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature Yadav, Ruchi Sun, Lishi Salyana, Muhammad Eric, Minkin Gotlieb, Vladimir Wang, Jen C. J Investig Med High Impact Case Rep Case Report Among thoracic tumors, these include subsets of a relatively newly described and yet to be fully characterized tumor entity: SMARCA4-deficient Undifferentiated Tumor (SMARCA4-dUT). Mutations of SMARCA4 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4) gene and loss of BRG1 (Brahma-related gene-1) is the underlying molecular hallmark of SMARCA4-dUT. They mostly involved the mediastinum, lung, and/or pleura showing undifferentiated round cell or rhabdoid morphology associated with aggressive clinical behavior. The pathogenesis of these tumors is still not clear. Morphologically, SMARAC4-dUT is differentiated from SMARCA4-dNSCLC by the presence of squamous and solid components in the latter. Immunohistochemically SMARC4-dUT has characteristic loss of SMARCA4 and SMARCA2 and strong expression of SOX2, CD34, and SALL4. Common sites of metastasis include lymph nodes, bones, and adrenal glands but rarely brain metastasis. We present a unique and rare case of a 76-year-old male with a right lung mass with documented pathology of SMARCA4-dUT and was found to have multiple brain metastases. SAGE Publications 2022-03-31 /pmc/articles/PMC8978313/ /pubmed/35356840 http://dx.doi.org/10.1177/23247096221074864 Text en © 2022 American Federation for Medical Research https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Case Report Yadav, Ruchi Sun, Lishi Salyana, Muhammad Eric, Minkin Gotlieb, Vladimir Wang, Jen C. SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title | SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title_full | SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title_fullStr | SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title_full_unstemmed | SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title_short | SMARCA4-Deficient Undifferentiated Tumor of Lung Mass—A Rare Tumor With the Rarer Occurrence of Brain Metastasis: A Case Report and Review of the Literature |
title_sort | smarca4-deficient undifferentiated tumor of lung mass—a rare tumor with the rarer occurrence of brain metastasis: a case report and review of the literature |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8978313/ https://www.ncbi.nlm.nih.gov/pubmed/35356840 http://dx.doi.org/10.1177/23247096221074864 |
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