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.

Synonyms:

SMARCA4-deficient thoracic sarcoma

This is just here as a test because I lose it

Term information

database cross reference
  • ICD-10:C49.3 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)
expertlink
  • https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466962
hasDbXref
  • ICD-10:C49.3
has age of onset
  • http://www.orpha.net/ORDO/Orphanet_409948
has inheritance
  • http://www.orpha.net/ORDO/Orphanet_409941
has point prevalence range
  • http://www.orpha.net/ORDO/Orphanet_409979
notation
  • ORPHA:466962
part of
  • http://www.orpha.net/ORDO/Orphanet_3394
  • http://www.orpha.net/ORDO/Orphanet_98060
present in
  • http://www.orpha.net/ORDO/Orphanet_409991