婴幼儿中枢神经系统非典型畸胎样／横纹肌样瘤的治疗体会

Treatment experience of atypical teratoid/rhabdoid tumors of the central nervous system in infants

目的探讨婴幼儿中枢神经系统非典型畸胎样／横纹肌样瘤（AT／RT）的治疗体会，以提高对该病的认识水平。方法回顾性分析复旦大学附属儿科医院神经外科2010年10月~2015年3月经病理和免疫组化诊断为AT／RT的12例婴幼儿的治疗经过，并进行相关分析和文献复习。结果12例患儿中，手术全切除10例，2例大部分切除。术后并发症：硬膜下积液2例，继发性癫痫2例，缄默l例，经对症治疗后均好转；术后所有患儿均未进行放、化疗等辅助治疗。平均随访时间为6个月，其中2例术后失访，随访的9例患儿全部复发，1例仍在随访中。复发时间最短为术后2个月，最长为术后9个月，均不超过1年。其中3例原位复发，6例脑脊液播散，颅内多发转移。所有复发的患儿均未再行手术治疗。结论AT／RT临床发病率低，病例罕见，但恶性程度高，侵袭性强，虽经手术全切除及术后放、化疗等综合治疗，但治疗效果不佳。影像学上虽然有一定的特征性，但仍难与髓母细胞瘤及原始神经外胚层肿瘤等鉴别，最终确诊还需通过病理学诊断。

Objective To investigate the treatment experience of atypical teratoid/rhabdoid tumors （AT/RT） of the central nervous system in infants in order to improve the level of awareness for the disease. Methods The treatment course of 12 infants with AT/RT diagnosed by pathology and immunohistochemistry at the Department of Neurosurgery, Children＇s Hospital of Shanghai Fudan University from October 2010 to March 2015 were analyzed retrospectively, and the correlation analysis and the literature review were performed. Results In 12 children, AT/RT of 10 were reseeted completely, and 2 were subtotally resected. Postoperative complications： 2 patients had subdural effusion, 2 had secondary epilepsy, and 1 had mutism. They were all improved after symptomatic treatment. All the children were not treated with adjuvant therapy after procedure, such as radiotherapy and chemotherapy. Two children were lost to follow up after procedure. Nine children were followed up and they all had recurrence, and 1 is still in follow-up. The shortest recurrence time after procedure was 2 months and the longest time was 9 months after procedure. The recurrence time was not more than 1 years. Three of them had recurrence in situ, 6 had cerebrospinal fluid disseminations and intracranial multiple metastases. All the recurrent children were not treated with surgery again. Conclusions The clinical incidence of AT/RT is low and the number of cases is less, however, its malignant degree is high and had strong invasion. Although they treated with comprehensive treatment, such as total resection and postoperative chemoradiotherapy, often the treatment effect of infants is poor. Although there are certain characteristics on imaging, it is still hard to differentiate the medulloblastomas with the PNET and other tumors. The final diagnosis should be confirmed by the pathological diagnosis.