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SMARCA4-deficient sarcoma of thorax

MedGen UID:
1806595
Concept ID:
C5554190
Neoplastic Process
Synonyms: SMARCA4-Deficient Thoracic Sarcoma; SMARCA4-deficient thoracic sarcoma; SMARCA4-Deficient Thoracic Sarcomatoid Tumor; Thoracic SMARCA4-Deficient Undifferentiated Tumor
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018761
Orphanet: ORPHA466962

Definition

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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSMARCA4-deficient sarcoma of thorax

Recent clinical studies

Diagnosis

Roden AC
Adv Anat Pathol 2024 Sep 1;31(5):303-317. Epub 2024 Mar 19 doi: 10.1097/PAP.0000000000000439. PMID: 38501690
Minoshima A, Sugita S, Segawa K, Aoyama T, Ito M, Daimon F, Takenami T, Kido T, Moriya J, Nishikiori H, Hasegawa T
Diagn Cytopathol 2023 May;51(5):E149-E154. Epub 2023 Feb 11 doi: 10.1002/dc.25116. PMID: 36772934
Lantuejoul S, Pissaloux D, Ferretti GR, McLeer A
Semin Diagn Pathol 2021 Sep;38(5):72-82. Epub 2021 Jun 16 doi: 10.1053/j.semdp.2021.06.005. PMID: 34176698
Sesboue C, Le Loarer F
Semin Diagn Pathol 2021 May;38(3):183-194. Epub 2021 Jan 12 doi: 10.1053/j.semdp.2020.12.002. PMID: 33451916

Prognosis

Lantuejoul S, Pissaloux D, Ferretti GR, McLeer A
Semin Diagn Pathol 2021 Sep;38(5):72-82. Epub 2021 Jun 16 doi: 10.1053/j.semdp.2021.06.005. PMID: 34176698

Clinical prediction guides

Lantuejoul S, Pissaloux D, Ferretti GR, McLeer A
Semin Diagn Pathol 2021 Sep;38(5):72-82. Epub 2021 Jun 16 doi: 10.1053/j.semdp.2021.06.005. PMID: 34176698

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