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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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http://dx.doi.org/10.1007/s11748-021-01627-z | DOI Listing |
Front Oncol
December 2024
Cancer Center, Department of Pathology, Zhejiang Provincial People's Hospital(Affiliated People's Hospital), Hangzhou Medical College, Hangzhou, China.
Thoracic SMARCA4-deficient undifferentiated tumors (SMARCA4-UTs), recently recognized as a rare malignancy described in the 5th edition of the World Health Organization Classification of Tumors, are characterized by an inactivating mutation in SMARCA4, most commonly found in the mediastinum of male smokers. Despite the aggressive nature and poor prognosis associated with these tumors, which have a median survival time of approximately 4-7 months, no standardized treatment guidelines are currently established. There are currently no reported cases of extended progression-free survival (PFS) in SMARCA4-UT patients treated with surgery and immunotherapy.
View Article and Find Full Text PDFWorld J Surg Oncol
December 2024
Department of Pathology, Affiliated Hospital of Zunyi Medical University, Zunyi City, Guizhou Province, P.R. China.
Background: SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) is a rare and highly malignant primary tumor characterized by the loss of SMARCA4 expression. Despite advancements in oncology, diagnosing and treating SMARCA4-UT remain significant clinical challenges.
Case Demonstration: A 67-year-old male with a history of smoking presented to the hospital with complaints of abdominal distention and pain lasting for more than four days.
Clin Respir J
December 2024
Department of Oncology, The First Affiliated Hospital of Xinxiang Medical University, Weihui, China.
SMARCA4-deficient undifferentiated tumor (SMARCA4-UT) in the chest is a high-grade malignant tumor that grows rapidly and often carries a poor prognosis. Unfortunately, there are currently no effective treatment available until now. Here, we report a case of SMARCA4-UT in a patient who showed a swift response to a combination treatment of penpulimab, anlotinib, and chemotherapy.
View Article and Find Full Text PDFNuklearmedizin
November 2024
Nuclear Medicine, Zhejiang University School of Medicine Sir Run Run Shaw Hospital, Hangzhou, China.
A 65-year-old man, who denied a smoking history, presented with chest distress and pain persisting for over a week. A contrast-enhanced chest CT scan revealed a large irregular mass in the right thoracic cavity with heterogeneous enhancement. The 18F-FDG PET/CT showed a large mass in the right thoracic cavity with heterogeneous markedly high FDG uptake.
View Article and Find Full Text PDFCancer Cytopathol
November 2024
Department of Pathology, Pathology & Laboratory Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
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