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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Detalles Bibliográficos
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
Descripción
Sumario: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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