TEDA Hospital of Tianjin University, Tianjin, China.
Department of Radiology, Third central hospital of Tianjin Medical University, Tianjin, China.
Cardiovasc Pathol. 2022 Sep-Oct;60:107451. doi: 10.1016/j.carpath.2022.107451. Epub 2022 Jul 12.
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.
主动脉原发性肉瘤极为罕见。本文报告 1 例起源于主动脉弓的 DICER1 相关肉瘤。1 例 45 岁男性因左手发凉及左侧桡动脉搏动减弱入院。胸部 CT 显示主动脉弓多发穿透性溃疡伴瘤样扩张，诊断为假性动脉瘤。肿块的组织病理学分析显示由上皮和间叶成分组成的双相性肿瘤，以及上皮和间叶细胞之间的过渡区，支持双相性肉瘤而非癌肉瘤的诊断。软组织分化细胞对 TLE-1、Bcl-2 和 CD99 呈强弥漫阳性；巢状上皮细胞 CK-pan 局灶性阳性，EMA 阴性，β-连环蛋白膜定位。该病例显示 SS18 断裂探针的独特模式，荧光原位杂交（FISH）中绿色信号丢失（约 33%）。全转录组 RNA 测序（RNA-seq）的融合基因分析表明，该病例无 SS18 等常见融合基因。下一代测序（NGS）显示 DICER1 体细胞突变。综上，该病例诊断为 DICER 相关主动脉弓双相性肉瘤。患者在主动脉置换治疗后 4 个月死亡，未行放化疗。
