Abstract：
Undifferentiated small round cell sarcomas (URCSs) represent a diagnostic challenge, and their optimal treatment is unknown. We aimed to define the clinical characteristics, treatment, and outcome of URCS patients.
URCS patients treated from 1983 to 2019 at 21 worldwide sarcoma reference centres were retrospectively identified. Based on molecular assessment, cases were classified as follows: (1) CIC-rearranged round cell sarcomas, (2) BCOR::CCNB3-rearranged round cell sarcomas, (3) unclassified URCSs. Treatment, prognostic factors and outcome were reviewed.
In total, 148 patients were identified [88/148 (60%) CIC-rearranged sarcoma (median age 32 years, range 7-78), 33/148 (22%) BCOR::CCNB3-rearranged (median age 17 years, range 5-91), and 27/148 (18%) unclassified URCSs (median age 37 years, range 4-70)]. One hundred-one (68.2%) cases presented with localised disease; 47 (31.8%) had metastases at diagnosis. Male prevalence, younger age, bone primary site, and a low rate of synchronous metastases were observed in BCOR::CCNB3-rearranged cases. Local treatment was surgery in 67/148 (45%) patients, and surgery + radiotherapy in 52/148 (35%). Chemotherapy was given to 122/148 (82%) patients. At a 42.7-month median follow-up, the 3-year overall survival (OS) was 92.2% (95% CI 71.5-98.0) in BCOR::CCNB3 patients, 39.6% (95% CI 27.7-51.3) in CIC-rearranged sarcomas, and 78.7% in unclassified URCSs (95% CI 56.1-90.6; p < 0.0001).
This study is the largest conducted in URCS and confirms major differences in outcomes between URCS subtypes. A full molecular assessment should be undertaken when a diagnosis of URCS is suspected. Prospective studies are needed to better define the optimal treatment strategy in each URCS subtype.
URCS patients treated from 1983 to 2019 at 21 worldwide sarcoma reference centres were retrospectively identified. Based on molecular assessment, cases were classified as follows: (1) CIC-rearranged round cell sarcomas, (2) BCOR::CCNB3-rearranged round cell sarcomas, (3) unclassified URCSs. Treatment, prognostic factors and outcome were reviewed.
In total, 148 patients were identified [88/148 (60%) CIC-rearranged sarcoma (median age 32 years, range 7-78), 33/148 (22%) BCOR::CCNB3-rearranged (median age 17 years, range 5-91), and 27/148 (18%) unclassified URCSs (median age 37 years, range 4-70)]. One hundred-one (68.2%) cases presented with localised disease; 47 (31.8%) had metastases at diagnosis. Male prevalence, younger age, bone primary site, and a low rate of synchronous metastases were observed in BCOR::CCNB3-rearranged cases. Local treatment was surgery in 67/148 (45%) patients, and surgery + radiotherapy in 52/148 (35%). Chemotherapy was given to 122/148 (82%) patients. At a 42.7-month median follow-up, the 3-year overall survival (OS) was 92.2% (95% CI 71.5-98.0) in BCOR::CCNB3 patients, 39.6% (95% CI 27.7-51.3) in CIC-rearranged sarcomas, and 78.7% in unclassified URCSs (95% CI 56.1-90.6; p < 0.0001).
This study is the largest conducted in URCS and confirms major differences in outcomes between URCS subtypes. A full molecular assessment should be undertaken when a diagnosis of URCS is suspected. Prospective studies are needed to better define the optimal treatment strategy in each URCS subtype.
摘要：
背景：未分化小圆细胞肉瘤（URCS）是一种诊断挑战，他们的最佳治疗方法是未知的。我们旨在定义临床特征，治疗,和URCS患者的结果。
方法：对1983年至2019年在全球21个肉瘤参考中心接受治疗的URCS患者进行回顾性鉴定。基于分子评估，病例分类如下：（1）CIC重排的圆形细胞肉瘤，（2）BCOR：：CCNB3重排的圆形细胞肉瘤，(3)未分类的URCS。治疗,对预后因素和结局进行了回顾。
结果：总计，148例患者被确定[88/148（60％）CIC重排肉瘤（中位年龄32岁，范围7-78)，33/148（22%）BCOR::CCNB3-重排（中位年龄17岁，范围5-91)，和27/148（18％）未分类的URCS（中位年龄37岁，范围4-70）]。101例（68.2％）患有局部疾病；47例（31.8％）在诊断时发生了转移。男性患病率,年龄较小,骨原发部位，在BCOR::CCNB3重排的病例中观察到同步转移率低。局部治疗是手术治疗67/148（45％）患者，手术+放疗52/148(35%)。122/148（82%）患者接受了化疗。在42.7个月的中位随访中，BCOR：：CCNB3患者的3年总生存率（OS）为92.2％（95％CI71.5-98.0），C重排肉瘤的39.6%(95%CI27.7-51.3)，未分类URCS为78.7%（95%CI56.1-90.6；p<0.0001）。
结论：这项研究是在URCS中进行的最大规模的研究，证实了URCS亚型之间的主要结果差异。当怀疑诊断为URCS时，应进行全面的分子评估。需要进行前瞻性研究以更好地确定每种URCS亚型的最佳治疗策略。
方法：对1983年至2019年在全球21个肉瘤参考中心接受治疗的URCS患者进行回顾性鉴定。
结果：总计，
结论：这项研究是在URCS中进行的最大规模的研究，证实了URCS亚型之间的主要结果差异。
