Klinikum der Landeshauptstadt Stuttgart gKAöR, Olgahospital, Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin, Pädiatrie 5 (Pädiatrische Onkologie, Hämatologie, Immunologie), Stuttgart, Germany.
Medizinische Fakultät der Universität Tübingen, Tübingen, Germany.
Cancer Med. 2023 Jul;12(13):14346-14359. doi: 10.1002/cam4.6113. Epub 2023 May 22.
In certain rare undifferentiated small round cell sarcomas new specific molecular CIC-DUX4/other partner, BCOR-CCNB3/other partner, YWHAE fusions, or BCOR-ITD (internal tandem duplication) were identified. These new "CIC fused" (CIC-fused/ATXN1::NUTM1) and "BCOR rearranged" (BCOR fused/ITD/ YWHAE) soft tissue sarcomas (STS) are not well described.
Multi-institutional European retrospective analysis of young patients (0-24 years) with CIC-fused and BCOR rearranged STS.
Overall, out of the 60 patients selected, the fusion status was CIC-fused (n = 29), ATXN1::NUTM1 (n = 2), BCOR::CCNB3 (n = 18), BCOR-ITD (n = 7), and YWHAE (n = 3), MAML::BCOR STS (n = 1). The main primaries were abdomen-pelvic (n = 23) and limbs (n = 18). Median age was 14 years (0.9-23.8) and 0.9 (0.1-19.1) for CIC-fused and BCOR-rearranged groups, respectively (n = 29; p < 0.001). IRS stages were I (n = 3), II (n = 7), III (n = 35), and IV (n = 15). Overall, 42 patients had large tumors (>5 cm) but only six had lymph node involvement. Patients received mainly chemotherapy (n = 57), local surgery (n = 50), and/or radiotherapy (n = 34). After a median follow-up of 47.1 months (range, 3.4-230), 33 (52%) patients had an event and 23 patients died. Three-year event-free survivals were 44.0% (95% CI 28.7-67.5) and 41.2% (95% CI 25.4-67.0) for CIC and BCOR groups (p = 0.97), respectively. Three-year overall survivals were 46.3% (95% CI 29.6-72.4) and 67.1% (95% CI 50.4-89.3; p = 0.24), respectively.
Pediatric patients often present with large tumors and metastatic disease, especially CIC sarcomas. Overall outcome is dismal. New treatment options are needed.
在某些罕见的未分化小圆细胞肉瘤中，新的特定分子 CIC-DUX4/其他伙伴、BCOR-CCNB3/其他伙伴、YWHAE 融合或 BCOR-ITD（内部串联重复）被鉴定出来。这些新的“CIC 融合”（CIC 融合/ATXN1::NUTM1）和“BCOR 重排”（BCOR 融合/ITD/YWHAE）软组织肉瘤（STS）尚未得到很好的描述。
对年轻患者（0-24 岁）的 CIC 融合和 BCOR 重排 STS 进行多机构欧洲回顾性分析。
在 60 名入选的患者中，融合状态为 CIC 融合（n=29）、ATXN1::NUTM1（n=2）、BCOR::CCNB3（n=18）、BCOR-ITD（n=7）和 YWHAE（n=3）、MAML::BCOR STS（n=1）。主要原发性疾病为腹部-骨盆（n=23）和四肢（n=18）。中位年龄为 14 岁（0.9-23.8），CIC 融合和 BCOR 重排组分别为 0.9（0.1-19.1）（n=29；p<0.001）。IRS 分期为 I（n=3）、II（n=7）、III（n=35）和 IV（n=15）。总体而言，42 名患者有大肿瘤（>5cm），但仅有 6 名患者有淋巴结受累。患者主要接受化疗（n=57）、局部手术（n=50）和/或放疗（n=34）。中位随访 47.1 个月（范围 3.4-230）后，33 名（52%）患者出现事件，23 名患者死亡。CIC 组和 BCOR 组的 3 年无事件生存率分别为 44.0%（95%CI 28.7-67.5）和 41.2%（95%CI 25.4-67.0）（p=0.97）。3 年总生存率分别为 46.3%（95%CI 29.6-72.4）和 67.1%（95%CI 50.4-89.3；p=0.24）。
儿科患者常表现为大肿瘤和转移性疾病，尤其是 CIC 肉瘤。总体预后较差。需要新的治疗选择。
