小儿颅内非典型性畸胎样/横纹肌样瘤8例报道及文献复习

目的通过探讨颅内非典型畸胎样/横纹肌样瘤(ATRT)的治疗方案提高对该病的认识。方法对8例ATRT病例临床资料进行回顾性分析并复习相关文献。结果 8例患儿中男6例,女2例;中位年龄2.04(1.58~14)岁,其中7例年龄3岁;8例患儿影像学均提示为颅内巨大占位,直径4cm,发生于额部4例,小脑3例,侧脑室1例;均行手术切除治疗,术后病理确诊,5例单纯手术治疗,3例手术结合化疗或放疗治疗;随访时间2~10个月,6例复发,复发时间为术后3周~6个月。结论颅内ATRT多发生于3岁以下婴幼儿、侵袭性强、预后差,手术后及时进行放疗+强化疗等联合治疗可明显改善ATRT预后,提高长期生存率。

Atypical teratoid rhabdoid tumour: report of 8 case and literature review

Objective To investigate the current diagnosis and treatment of atypical teratoid rhabdoid tumor (ATRT) in China.Methods We retrospectively analyzed the clinical data of 8 cases with ATRT,and reviewed related literatures.Results Median age at diagnosis was 2.04 years (range:1.58 ～14 years),and seven patients were younger than 3 years.All tumors were greater than 4cm in size.Primary tumors were located in the frontal lobe in 4 patients,the posterior fossa in 3 patients,and in the ventricles in 1 patient.Gross total resection of the primary tumor was achieved in every patient.Among them,five had not received further treatment other than surgery.Six patients experienced disease recurrence at 3 weeks to 6 months post-diagnosis.Conclusions ATRTs are rare and highly aggressive embryonal central nervous system (CNS) tumors.Use of intensive multimodality regimens resulted in a significant improvement in time to progression and overall survival for these patients.