目的:描述具有CIC-DUX4和BCOR-CCNB3易位的未分化圆形细胞肉瘤的治疗前影像学特征和临床过程。
方法:在这项回顾性研究中,几个治疗前的影像学特征(肿瘤位置,尺寸,增强模式,坏死,流动空隙,钙化,和FDG摄取)和患者的临床病程进行评估。
结果:在12例CIC-DUX4肉瘤患者中(中位年龄,24年;范围,12-75),肉瘤位于软组织(n=10),骨(n=1),和肺(n=1)。核磁共振成像,所有10CIC-DUX4肉瘤均表现为大坏死肿块(平均大小6.7cm,范围2.3-11.3),100%显示对比度增强,60%显示流动空隙,20%的人显示流体水平。在PET上,平均SUVmax为13.2(范围,8.5-18.1)。在随访的12例患者中,3人在诊断后一年内死亡。最常见的转移部位是肺(5/12)。在5例BCOR-CCNB3肉瘤患者中(中位年龄,14年;范围,2-17),肉瘤位于脊柱(n=2),股骨(n=1),胫骨(n=1),和骨盆(n=1)。在X光片或CT上,2是裂解的,3为硬化。40%的BCOR-CCNB3肉瘤发生软组织钙化。核磁共振成像,所有3例BCOR-CCNB3肿瘤均增强,其中33%表现为流空,66%表现为坏死.在PET上,平均SUVmax为6.3(范围5.7-6.9).
结论:CIC-DUX4肉瘤通常表现为坏死和高代谢软组织肿块,而伴有BCOR-CCNB3易位的肉瘤是影像学上伴有坏死的血管性骨病变。CIC-DUX4肉瘤在临床上比BCOR-CCNB3肉瘤更具侵袭性。
OBJECTIVE: To describe the pre-treatment imaging features and clinical course of undifferentiated round cell sarcomas with CIC-DUX4 and BCOR-CCNB3 translocations.
METHODS: In this retrospective study, several pre-treatment imaging features (tumor location, size, enhancement pattern, necrosis, flow voids, calcification, and FDG avidity) and the clinical course of patients were evaluated.
RESULTS: In 12 patients with CIC-DUX4 sarcomas (median age, 24 years; range, 12-75), sarcomas were located in the soft tissue (n = 10), bone (n = 1), and lungs (n = 1). On MRI, all 10 CIC-DUX4 sarcomas presented as a large necrotic mass (mean size 6.7 cm, range 2.3-11.3) with 100% demonstrating contrast enhancement, 60% showing flow voids, and 20% demonstrating fluid-fluid levels. On PET, the mean SUVmax was 13.2 (range, 8.5-18.1). Among 12 patients with follow-up, 3 died within a year of diagnosis. The most common site of metastases was the lungs (5/12). In 5 patients with BCOR-CCNB3 sarcomas (median age, 14 years; range, 2-17), sarcomas were located in the spine (n = 2), femur (n = 1), tibia (n = 1), and pelvis (n = 1). On radiograph or CT, 2 were lytic, 3 were sclerotic. Soft tissue calcifications occurred in 40% of BCOR-CCNB3 sarcomas. On MRI, all 3 BCOR-CCNB3 tumors enhanced with 33% demonstrating flow voids and 66% exhibiting necrosis. On PET, the mean SUVmax was 6.3 (range 5.7-6.9).
CONCLUSIONS: CIC-DUX4 sarcomas often present as necrotic and hypermetabolic soft tissue masses while sarcomas with BCOR-CCNB3 translocations are vascular bone lesions with necrosis at imaging. CIC-DUX4 sarcomas are clinically more aggressive than BCOR-CCNB3 sarcomas.