DICER1-associated sarcoma of the aortic arch – a case report and literature review

•This is the first report of DICER1-associated biphasic sarcoma of the aortic arch.•Our study is an important supplement to the diagnosis of DICER1-associated sarcoma.•Mutations in somatic DICER1 and no DICER1 syndrome.•An atypical FISH presentation for its SS18-SSx translocation.•Using multiple imaging methods for appropriate preoperative diagnosis of aortic sarcoma. 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 β-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.