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偶然发现的Askin瘤的放射学和病理学诊断

Radiological and pathological diagnosis of an incidental Askin tumor.

作者信息

Covello Brian, Hartman Steven, Kaufman Sean, Enrizo Orlando

机构信息

Department of Interventional Radiology, Kendall Regional Medical Center, 11750 SW 40th St, Miami, FL 33175, USA.

Dr. Kiran C Patel College of Allopathic Medicine, Nova Southeastern University, 3200 S University Dr, Davie, FL 33328, USA.

出版信息

Radiol Case Rep. 2021 Mar 27;16(6):1245-1248. doi: 10.1016/j.radcr.2021.02.060. eCollection 2021 Jun.

Abstract

A 53-year-old male with no significant past medical history presented with an acute traumatic fracture of his thumb. Preoperative chest radiograph before K-wire fixation demonstrated an incidental 9 cm opacity of the left lung. Chest computed tomography revealed a 6.3 cm aggressive appearing pleural-based mass with erosion and destruction of the underlying rib. The patient underwent percutaneous biopsy with interventional radiology, and pathology revealed a small round blue cell tumor with positive CD99 staining and a FUS-ERG chromosomal translocation. The patient was diagnosed with Askin tumor, a peripheral primitive neuroectodermal tumor of the thoracopulmonary region belonging to the Ewing sarcoma tumor family. Computed tomography and magnetic resonance imaging of Askin tumors may show features such as a heterogeneous soft tissue mass, pleural effusion, rib destruction, hemorrhage, necrosis, and cystic degeneration. Askin tumors typically exhibit the EWS-FLI1 fusion mutation, although FUS-ERG chromosomal translocation has been described. Both rarity and variability of Askin tumors present a diagnostic challenge for clinicians. Collaborative effort amongst radiologists and pathologists is essential for diagnosis.

摘要

一名53岁男性,既往无重大病史,因拇指急性创伤性骨折就诊。克氏针固定术前的胸部X线片偶然发现左肺有一个9厘米的不透明区。胸部计算机断层扫描显示一个6.3厘米、形态侵袭性的胸膜下肿块,伴有肋骨侵蚀和破坏。患者接受了介入放射学的经皮活检,病理显示为小圆形蓝细胞瘤,CD99染色阳性,FUS-ERG染色体易位。该患者被诊断为阿斯金瘤,这是一种属于尤因肉瘤肿瘤家族的胸肺区域外周原始神经外胚层肿瘤。阿斯金瘤的计算机断层扫描和磁共振成像可能显示出诸如软组织肿块不均匀、胸腔积液、肋骨破坏、出血、坏死和囊性变等特征。阿斯金瘤通常表现为EWS-FLI1融合突变,尽管也有FUS-ERG染色体易位的描述。阿斯金瘤的罕见性和变异性给临床医生带来了诊断挑战。放射科医生和病理科医生之间的协作对于诊断至关重要。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0489/8041657/fc34891e6ed9/gr1.jpg

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