儿童头颈部非横纹肌肉瘤软组织肉瘤临床研究

目的 总结多学科联合诊治头颈部非横纹肌肉瘤软组织肉瘤患儿的临床特征及近期疗效，以指导临床诊疗。方法 将2012年10月至2018年2月期间本中心收治的头颈部非横纹肌肉瘤软组织肉瘤病例连续纳入研究。治疗采用包括手术、化学药物治疗（以下简称化疗）及局部放射治疗（以下简称放疗）在内的多学科联合诊治模式；局部放疗方式的选择包括外放疗、质子治疗及¹²⁵I粒子植入治疗。分析患儿的临床特征及治疗效果。结果 本中心收治的11例头颈部非横纹肌肉瘤软组织肉瘤患儿，年龄1.1~12岁，中位年龄5.6岁，其中男性7例，女性4例；病理类型包括：恶性横纹肌样瘤3例，滑膜肉瘤2例，婴儿型纤维肉瘤2例，孤立型纤维肉瘤1例，恶性神经鞘瘤1例；伴有CIC-DUX4易位的小圆细胞肉瘤1例，未分类的小圆细胞肉瘤1例。2例婴儿型纤维肉瘤患儿行ETV6-NTRK3融合基因检测，结果均为阴性。2例滑膜肉瘤患儿SYT-SSX融合基因均为阳性。肿瘤直径≥5 cm者6例，<5 cm者5例；6例患儿无区域淋巴结转移，5例存在区域淋巴结转移；有远处转移者3例，余8例患儿不存在远处转移，其中2例患儿为肺转移，1例患儿为骨、骨髓、胰腺及多发淋巴结转移。5例患儿行手术治疗，6例患儿仅行活检。全部患儿均接受化疗。3例患儿行外放疗，4例患儿未放疗，4例患儿行¹²⁵I粒子植入治疗。随诊时间10~78个月，中位随诊时间19个月。治疗后8例完全缓解，1例部分缓解，1例死亡，1例治疗中发生肺转移仍在治疗中。生存分析结果显示：本组患儿预计平均生存时间为（64.7±6.9）个月（95%CI：51.1~78.2）。1年总生存率及无事件生存率均为（88.9±10.5）%。结论 手术联合化疗及放疗是头颈部非横纹肌肉瘤软组织肉瘤患儿的有效治疗措施，近期疗效较理想，但仍需进一步随诊观察。远处转移是导致治疗失败的主要原因。

Clinical features and outcome regarding head and neck non-rhabdomyosarcoma soft tissue sarcoma in children

Objective The purpose for this study was to explore the clinical presentation, treatment, survival and risk factors of head and neck non-rhabdomyosarcoma soft tissue sarcoma (NRSTS) in pediatric patients. Methods The clinical data of head and neck NRSTS patients diagnosed between Oct.2012 and Feb.2018 were retrospectively studied. Clinical features, treatment and outcomes were analyzed. Results Eleven patients were enrolled in this study, including 7 boys and 4 girls, with a median age of 5.6 years. Including malignant rhabdoid tumors(n=3),synovial sarcoma(n=2), fibrosarcoma(n=3), malignant neurilemmoma(n=1), undifferentiated small round cell sarcomas with CIC-DUX4 fusion (n=1), and undifferentiated small round cell sarcomas (n=1). The primary site of the tumor including neck (n=4), scalp and facial soft tissue (n=3), oral cavity and oropharynx(n=3), and fossae infratemporalis (n=1). The diameter of the tumor ≥ 5 cm(n=6),<5 cm(n=5). Six patients had local lymph node metastasis, and 3 patients had distant metastasis. All patients(n=11) received systemic chemotherapy, radiation therapy was carried out in 3 patients, 4 patients received ¹²⁵I particle implantation, 4 patients did not receive any adjuvant radiation. Surgery was performed in 5 patients, and 6 patients only received biopsy. The follow-up time was 10-78 month, and median follow-up time was 19 month. The estimated mean survival time was (64.7±6.9) month (95%CI:51.1-78.2%). The 1-year overall survival was (88.9±10.5)%. Conclusion In this series, most of the pediatric head and neck NRSTS are nonmetastatic, and the short-term outcome is favorable. ¹²⁵I particle implantation is effective for local control, and improved systemic therapies are needed for patients with metastatic disease.