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