DICER1-associated sarcoma of the aortic arch - a case report and literature review.
Cardiovasc Pathol
; 60: 107451, 2022.
Article
in En
| MEDLINE
| ID: mdl-35835430
ABSTRACT
Primary sarcoma of the aorta is extremely rare. We herein report a case of DICER1-associated sarcoma originating from the aortic arch. A 45-year-old male was admitted to the hospital with a cold left hand and a weakened radial artery pulse on the left side. Computed tomography of the chest showed multiple penetrating ulcers with tumor-like ectasia at the aortic arch, diagnosed as a pseudoaneurysm. Histopathological analysis of the mass revealed a biphasic neoplasm composed of epithelial and mesenchymal components and a transition zone between the epithelial and mesenchymal cells, which supports the diagnosis of a biphasic sarcoma rather than carcinosarcoma. The differentiated cells of soft tissue showed strong and diffuse positivity for TLE-1, Bcl-2, and CD99; the nested epithelial cells were focally positive for CK-pan but negative for EMA, membranous localization of ß-catenin. This case showed a unique pattern of SS18-break-apart probe, with loss of the green signal (approximately 33%) by fluorescence in situ hybridization (FISH). Fusion gene profiling using whole transcriptome RNA sequencing (RNA-seq) indicated that this case was negative for common fusion genes including SS18. Next-generation sequencing (NGS) revealed somatic mutations in DICER1. Taken together, this case was diagnosed as a DICER-associated biphasic sarcoma of the aortic arch. The patient died four months after aorta replacement therapy without radiotherapy and chemotherapy.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sarcoma
/
Soft Tissue Neoplasms
/
Sarcoma, Synovial
Type of study:
Diagnostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Limits:
Humans
/
Male
Language:
En
Journal:
Cardiovasc Pathol
Journal subject:
ANGIOLOGIA
/
CARDIOLOGIA
/
PATOLOGIA
Year:
2022
Document type:
Article
Affiliation country:
China