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目的:探讨儿童颅外恶性横纹肌样瘤(eMRTs)的临床特征及预后影响因素。方法:回顾性病例系列研究。对南京医科大学附属儿童医院2018年4月至2023年1月收治的21例eMRTs患儿的临床资料进行回顾性分析并随访，随访时间截至2023年10月30日。根据患儿性别、年龄、肿瘤起源部位、临床分期、病初乳酸脱氢酶(LDH)水平、手术切除肿瘤程度、化疗方案、放疗等因素分组，采用Kaplan-Meier法计算患儿2年无进展生存率(PFS)和总生存率(OS)，采用Cox回归模型分析预后影响因素。结果:21例eMRTs患儿中，男7例，女14例，发病年龄24(3～138)个月。免疫组织化学显示患儿肿瘤组织均不表达整合酶相互作用因子1(INI-1)。其中肾脏起源13例，肾外非中枢起源8例。确诊时临床分期Ⅰ～Ⅱ期4例，Ⅲ～Ⅳ期17例。13例患儿行肿瘤完全切除术，7例行部分切除，1例仅行活检术。13例肾脏横纹肌样瘤中8例初始诱导给予AVDC(表柔比星、长春新碱、放线菌素D、环磷酰胺)/ICE(异环磷酰胺、卡铂、依托泊苷)交替化疗，5例参照肾母细胞瘤方案；8例肾外非中枢横纹肌样瘤中，5例初始诱导给予AVDC/ICE交替化疗，3例参照软组织肉瘤常用方案。13例患儿接受放射治疗；1例患儿放化疗后接受自体干细胞移植巩固治疗。截至2023年10月，存活14例，死亡7例。总2年PFS和OS分别为56%(95% CI：35.7%～88.5%)和62%(95% CI：43.2%～89.4%)，其中采用AVDC/ICE交替化疗方案组2年PFS和OS分别为73%(95% CI：47.0%～100.0%)、79%(95% CI：56.4%～100.0%)。单因素Cox回归分析显示完全手术切除、接受AVDC/ICE交替化疗方案、放疗的患儿预后更好(均 P≤0.05)。多因素Cox回归显示是否放疗是影响患儿总体生存的独立危险因素。 结论:eMRTs好发于婴幼儿，恶性度高、侵袭性强，目前尚无金标准治疗方案，完全手术切除肿瘤联合AVDC/ICE交替化疗及放疗可能改善此类患儿预后。

Objective:To investigate the clinical characteristics and prognostic factors of extracranial malignant rhabdoid tumors (eMRTs) in children.Methods:In this retrospective case series study, a retrospective analysis was conducted on clinical data of 21 eMRT patients admitted to Children′s Hospital of Nanjing Medical University from April 2018 to January 2023 and followed up until October 30, 2023.Patients were grouped according to their gender, age, tumor origin site, clinical staging, initial lactate dehydrogenase (LDH) level, extent of tumor resection, chemotherapy regimen, and radiotherapy.The Kaplan-Meier method was used to calculate the 2-year progression-free survival rate (PFS) and overall survival rate (OS) of the patients, and the Cox regression model was used to analyze the prognostic factors.Results:Among the 21 patients with eMRTs, there were 7 males and 14 females, with the age of onset of 24 (3-138) months.Immunohistochemistry showed that all tumor tissues of the patients did not secrete integrase interactor 1 (INI-1).Among them, 13 cases originated from the kidney, and 8 cases originated from extrarenal non-central sites.At the time of diagnosis, there were 4 cases in clinical stages Ⅰ-Ⅱ, 17 cases in stage Ⅲ-Ⅳ.Thirteen patients underwent complete tumor resection surgery, 7 underwent partial resection, and 1 only underwent biopsy.Among the 13 cases of renal rhabdoid tumors, 8 cases were treated with the AVDC (Epirubicin, Vincristine, Actinomycin D, Cyclophosphamide)/ICE (Ifosfamide, Carboplatin, Etoposide) regimen, and 5 cases were treated with the protocol for nephroblastoma; among the 8 cases of extrarenal non-central rhabdoid tumors, 5 cases were treated with the AVDC/ICE regimen, and 3 cases were treated with the commonly used protocol for soft tissue sarcoma.Thirteen patients received radiotherapy.One patient received consolidation therapy with autologous stem cell transplantation following chemotherapy and radiotherapy.As of October 2023, there were 14 survivors and 7 deaths.The overall 2-year PFS and OS were 56%(95% CI: 35.7%-88.5%) and 62%(95% CI: 43.2%-89.4%), respectively.Among the patients who received the AVDC/ICE alternating chemotherapy regimen, the 2-year PFS and OS were 73%(95% CI: 47.0%-100.0%) and 79% (95% CI: 56.4%-100.0%), respectively.Univariate Cox regression analysis showed that complete tumor resection, the AVDC/ICE alternating chemotherapy, and radiotherapy were associated with a better prognosis in children (all P≤0.05).Multivariate Cox regression analysis showed that whether to receive radiotherapy was an independent risk factor affecting the overall survival in children. Conclusions:eMRTs are more common in infants and young children, with high malignancy and invasiveness.There is currently no standard treatment.Complete tumor resection combined with the AVDC/ICE alternating chemotherapy and radiotherapy may improve the prognosis of children with eMRTs.