Heinz Amadeus T, Ciuffolotti Melissa, Merks Johannes H M, Schönstein Anton, Minard-Colin Véronique, Fuchs Jörg, Guillen Gabriela, Timmermann Beate, Vokuhl Christian, Koscielniak Ewa, Chisholm Julia C, Sparber-Sauer Monika, Bisogno Gianni
Department of Pediatric Hematology and Oncology, University Children´s Hospital Tuebingen, Tuebingen, Germany.
Stuttgart Cancer Center, Zentrum für Kinder-, Jugend- und Frauenmedizin (Olgahospital), Pädiatrie 5 (Pädiatrische Onkologie, Hämatologie, Immunologie), Klinikum der Landeshauptstadt Stuttgart, Stuttgart, Germany.
Pediatr Blood Cancer. 2025 Mar;72(3):e31476. doi: 10.1002/pbc.31476. Epub 2024 Dec 10.
Patients with alveolar rhabdomyosarcoma (ARMS) with regional lymph node involvement (N1) are defined as "very-high-risk rhabdomyosarcoma" in Europe. Different chemotherapy regimens were used in European study protocols.
Patients with FOXO1 fusion-positive N1 ARMS registered in the CWS-2002P study, the EpSSG RMS 2005 study, and SoTiSaR were retrospectively investigated. Patients received systemic treatment with chemotherapy (CHT) and local treatment of primary tumor (PT) and involved lymph nodes (LN) with radiotherapy (RT) and/or surgery. Kaplan-Meier estimators and Cox regression were used to examine event-free survival (EFS) and overall survival (OS) according to prognostic factors and treatment.
A total of 156 patients registered in RMS 2005 (n = 99), CWS-2002P (n = 20), and SoTiSaR (n = 37) between 2003 and 2020 were eligible for this analysis. Median age at diagnosis was 10.2 years [0.1-21.9]. Treatment comprised CHT with IVADo (ifosfamide, vincristine, actinomycin-D, doxorubicin, n = 93; 60%), VAIA (vincristine, actinomycin-D, ifosfamide, adriamycin/doxorubicin, n = 53; 34%) or other regimens (n = 10; 6%); resection of the PT (n = 89; 57%), LN sampling or dissection (n = 92; 59%), and/or RT (n = 139; 89%). Maintenance treatment (MT) was added in n = 99/135 (73%) patients who achieved complete remission. Five-year EFS and OS of the cohort were 45% and 47%, respectively. Age and tumor size were independent prognostic factors for EFS. Local treatment applied to the LN with surgery, RT or both significantly improved EFS (p = 0.02) and OS (p = 0.04), with no difference between the modalities (p = 0.7).
Patients with fusion-positive N1 ARMS carry a poor prognosis. Adequate local treatment of LN improved survival.
在欧洲，伴有区域淋巴结受累（N1）的肺泡横纹肌肉瘤（ARMS）患者被定义为“极高风险横纹肌肉瘤”。欧洲的研究方案中使用了不同的化疗方案。
对在CWS - 2002P研究、EpSSG RMS 2005研究和SoTiSaR中登记的FOXO1融合阳性N1 ARMS患者进行回顾性研究。患者接受化疗（CHT）的全身治疗以及对原发肿瘤（PT）和受累淋巴结（LN）进行放疗（RT）和/或手术的局部治疗。使用Kaplan - Meier估计量和Cox回归根据预后因素和治疗情况来检查无事件生存期（EFS）和总生存期（OS）。
2003年至2020年间，共有156例在RMS 2005（n = 99）、CWS - 2002P（n = 20）和SoTiSaR（n = 37）中登记的患者符合本分析条件。诊断时的中位年龄为10.2岁[0.1 - 21.9]。治疗包括采用IVADo（异环磷酰胺、长春新碱、放线菌素 - D、阿霉素，n = 93；60%）、VAIA（长春新碱、放线菌素 - D、异环磷酰胺、阿霉素/多柔比星，n = 53；34%）或其他方案（n = 10；6%）进行化疗；切除PT（n = 89；57%）、LN采样或清扫（n = 92；59%）以及/或者放疗（n = 139；89%）。99/135（73%）例达到完全缓解者接受了维持治疗（MT）。该队列的5年EFS和OS分别为45%和47%。年龄和肿瘤大小是EFS的独立预后因素。对LN采用手术、放疗或两者联合的局部治疗显著改善了EFS（p = 0.02）和OS（p = 0.04），各治疗方式之间无差异（p =
