Abstract：
CIC-rearranged sarcoma is a recently established, ultra-rare, molecularly defined sarcoma subtype. We aimed to further characterise clinical features of CIC-rearranged sarcomas and explore clinical management including systemic treatments and outcomes.
A multi-centre retrospective cohort study of patients diagnosed between 2014-2019.
Eighteen patients were identified. The median age was 27 years (range 13-56), 10 patients were male (56%), 11 patients (61%) had localised disease and 7 patients had advanced (metastatic or unresectable) disease at diagnosis. Of 11 patients with localised disease at diagnosis, median overall survival (OS) was 40.6 months and the 1-, 2- and 5-year OS estimates were 82%, 64% and 34% respectively. Nine patients (82%) underwent surgery (all had R0 resections), 8 (73%) patients received radiotherapy to the primary site (median dose 57Gy in 28 fractions), and 8 (73%) patients received chemotherapy (predominantly Ewing-based regimens). Metastases developed in 55% with a median time to recurrence of 10.5 months. In patients with advanced disease at diagnosis, median OS was 12.6 months (95% CI 5.1-20.1), 1-year OS was 57%. Median progression-free survival was 5.8 months (95% CI 4.5-7.2). Durable systemic therapy responses occurred infrequently with a median duration of systemic treatment response of 2.1 months. One durable complete response of metastatic disease to VDC/IE chemotherapy was seen. Responses to pazopanib (n = 1) and pembrolizumab (n = 1) were not seen.
In this series, CIC-rearranged sarcomas affected young adults and had a high incidence of presenting with, or developing, metastatic disease. The prognosis overall was poor. In advanced disease, durable systemic therapy responses were infrequent.
A multi-centre retrospective cohort study of patients diagnosed between 2014-2019.
Eighteen patients were identified. The median age was 27 years (range 13-56), 10 patients were male (56%), 11 patients (61%) had localised disease and 7 patients had advanced (metastatic or unresectable) disease at diagnosis. Of 11 patients with localised disease at diagnosis, median overall survival (OS) was 40.6 months and the 1-, 2- and 5-year OS estimates were 82%, 64% and 34% respectively. Nine patients (82%) underwent surgery (all had R0 resections), 8 (73%) patients received radiotherapy to the primary site (median dose 57Gy in 28 fractions), and 8 (73%) patients received chemotherapy (predominantly Ewing-based regimens). Metastases developed in 55% with a median time to recurrence of 10.5 months. In patients with advanced disease at diagnosis, median OS was 12.6 months (95% CI 5.1-20.1), 1-year OS was 57%. Median progression-free survival was 5.8 months (95% CI 4.5-7.2). Durable systemic therapy responses occurred infrequently with a median duration of systemic treatment response of 2.1 months. One durable complete response of metastatic disease to VDC/IE chemotherapy was seen. Responses to pazopanib (n = 1) and pembrolizumab (n = 1) were not seen.
In this series, CIC-rearranged sarcomas affected young adults and had a high incidence of presenting with, or developing, metastatic disease. The prognosis overall was poor. In advanced disease, durable systemic therapy responses were infrequent.
摘要：
CIC-重排肉瘤是最近建立的，非常罕见，分子定义的肉瘤亚型。我们旨在进一步表征CIC重排肉瘤的临床特征，并探索临床管理，包括全身治疗和结果。
2014-2019年间诊断的患者的多中心回顾性队列研究。
确认了18名患者。中位年龄为27岁（范围13-56），10例患者为男性（56%），11例患者（61%）患有局部疾病，7例患者在诊断时患有晚期（转移性或不可切除）疾病。在诊断时患有局部疾病的11名患者中，中位总生存期（OS）为40.6个月，2年和5年OS估计为82%，分别为64%和34%。9例患者（82%）接受了手术（均为R0切除），8例（73%）患者接受了原发部位的放疗（中位剂量57Gy在28个部位），8例(73%)患者接受化疗(主要是基于尤因的方案).转移发生率为55％，中位复发时间为10.5个月。在诊断时患有晚期疾病的患者中，中位OS为12.6个月（95%CI5.1-20.1），1年OS为57%。中位无进展生存期为5.8个月（95%CI4.5-7.2）。持久的全身治疗反应很少发生，全身治疗反应的中位持续时间为2.1个月。观察到转移性疾病对VDC/IE化疗的持久完全反应。未观察到对帕唑帕尼（n=1）和派姆单抗（n=1）的反应。
在本系列中,CIC重排肉瘤影响年轻人，并且出现，或发展，转移性疾病。总体预后较差。在晚期疾病中，持续的全身治疗反应并不常见.
2014-2019年间诊断的患者的多中心回顾性队列研究。
确认了18名患者。中位年龄为27岁（范围13-56），10例患者为男性（56%），11例患者（61%）患有局部疾病，7例患者在诊断时患有晚期（转移性或不可切除）疾病。在诊断时患有局部疾病的11名患者中，中位总生存期（OS）为40.6个月，2年和5年OS估计为82%，分别为64%和34%。9例患者（82%）接受了手术（均为R0切除），8例（73%）患者接受了原发部位的放疗（中位剂量57Gy在28个部位），8例(73%)患者接受化疗(主要是基于尤因的方案).转移发生率为55％，中位复发时间为10.5个月。在诊断时患有晚期疾病的患者中，中位OS为12.6个月（95%CI5.1-20.1），1年OS为57%。中位无进展生存期为5.8个月（95%CI4.5-7.2）。持久的全身治疗反应很少发生，全身治疗反应的中位持续时间为2.1个月。观察到转移性疾病对VDC/IE化疗的持久完全反应。未观察到对帕唑帕尼（n=1）和派姆单抗（n=1）的反应。
在本系列中,CIC重排肉瘤影响年轻人，并且出现，或发展，转移性疾病。总体预后较差。在晚期疾病中，持续的全身治疗反应并不常见.
