SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma

SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently identified aggressive subtype of sarcoma. We present the case of a 44-year-old man who underwent a surgery for a perforated small intestine. Compued tomography scan revealed a tissular mediastino–pulmonary mass. Histopathological examina...

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Autores principales: Khanchel, Fatma, Hedhili, Raweh, Zenaidi, Hakim, Helal, Imen, Yahmadi, Abdelwahed, Ben Néji, Hend, Ksontini, Feryel, Ben Brahim, Ehsen, Jouini, Raja, Chadli, Aschraf
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Singapore 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203525/
https://www.ncbi.nlm.nih.gov/pubmed/33866513
http://dx.doi.org/10.1007/s11748-021-01627-z
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author Khanchel, Fatma
Hedhili, Raweh
Zenaidi, Hakim
Helal, Imen
Yahmadi, Abdelwahed
Ben Néji, Hend
Ksontini, Feryel
Ben Brahim, Ehsen
Jouini, Raja
Chadli, Aschraf
author_facet Khanchel, Fatma
Hedhili, Raweh
Zenaidi, Hakim
Helal, Imen
Yahmadi, Abdelwahed
Ben Néji, Hend
Ksontini, Feryel
Ben Brahim, Ehsen
Jouini, Raja
Chadli, Aschraf
author_sort Khanchel, Fatma
collection PubMed
description SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently identified aggressive subtype of sarcoma. We present the case of a 44-year-old man who underwent a surgery for a perforated small intestine. Compued tomography scan revealed a tissular mediastino–pulmonary mass. Histopathological examination of the intestinal mass shown a malignant tumour with a typical epithelioid and rhabdoid cells, numerous mitoses and large necrosis. A large panel of immunohistochemistry revealed loss of SMARCA4 and SMARCA2 and allowed the diagnosis of SMARCA4-DTS. It is important to consider SMARCA4-deficient thoracic sarcoma in the differential diagnosis of tumours showing suggestive morphologic features in patients of all ages, especially in the case of metastasis associated with thoracic mass.
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spelling pubmed-82035252021-06-17 SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma Khanchel, Fatma Hedhili, Raweh Zenaidi, Hakim Helal, Imen Yahmadi, Abdelwahed Ben Néji, Hend Ksontini, Feryel Ben Brahim, Ehsen Jouini, Raja Chadli, Aschraf Gen Thorac Cardiovasc Surg Case Report SMARCA4-deficient thoracic sarcoma (SMARCA4-DTS) is a recently identified aggressive subtype of sarcoma. We present the case of a 44-year-old man who underwent a surgery for a perforated small intestine. Compued tomography scan revealed a tissular mediastino–pulmonary mass. Histopathological examination of the intestinal mass shown a malignant tumour with a typical epithelioid and rhabdoid cells, numerous mitoses and large necrosis. A large panel of immunohistochemistry revealed loss of SMARCA4 and SMARCA2 and allowed the diagnosis of SMARCA4-DTS. It is important to consider SMARCA4-deficient thoracic sarcoma in the differential diagnosis of tumours showing suggestive morphologic features in patients of all ages, especially in the case of metastasis associated with thoracic mass. Springer Singapore 2021-04-17 2021 /pmc/articles/PMC8203525/ /pubmed/33866513 http://dx.doi.org/10.1007/s11748-021-01627-z Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Case Report
Khanchel, Fatma
Hedhili, Raweh
Zenaidi, Hakim
Helal, Imen
Yahmadi, Abdelwahed
Ben Néji, Hend
Ksontini, Feryel
Ben Brahim, Ehsen
Jouini, Raja
Chadli, Aschraf
SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title_full SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title_fullStr SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title_full_unstemmed SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title_short SMARCA4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
title_sort smarca4-deficient thoracic sarcoma revealed by metastasis to the small intestine: a diagnostic dilemma
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8203525/
https://www.ncbi.nlm.nih.gov/pubmed/33866513
http://dx.doi.org/10.1007/s11748-021-01627-z
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