SMARCA4-deficient sarcoma of thorax

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SMARCA4-deficient sarcoma of thorax

Synonyms: SMARCA4-deficient thoracic sarcoma

A rare soft tissue tumor characterized by a compressive mass located in the mediastinum and/or pleura and lung including prominent lymph node involvement histologically poorly differentiated and frequently showing rhabdoid features. Loss of SMARCA4 is typically accompanied by SMARCA2-deficiency. Presenting symptoms include dyspnea cough chest pain or dysphagia among others. The tumors are aggressive with limited response to chemotherapies rapid local progression high recurrence rate after surgical resection and short median survival times. There is a strong association with smoking.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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