Purpose

Primary central nervous system (CNS) rhabdomyosarcoma is a rare mesenchymal tumor predominantly seen in children and associated with a poor outcome. We report a case of primary CNS rhabdomyosarcoma with PAX3-NCOA2 fusion and present a systematic meta-review of primary CNS rhabdomyosarcoma to characterize this rare tumor.

Methods

We present the case of a 6-year-old boy with primary CNS rhabdomyosarcoma in the posterior fossa. In a systematic meta-review, we compare the demographic data of primary CNS rhabdomyosarcoma with data of rhabdomyosarcoma at all sites from the SEER database and analyze clinical factors associated with survival outcome.

Results

Our patient underwent gross total resection and received vincristine, actinomycin-D, cyclophosphamide with early introduction of concurrent focal radiation and remained alive with no evidence of disease for 2 years after the end of therapy. Histopathological review revealed embryonal-type rhabdomyosarcoma, and whole-transcriptome analysis revealed PAX3 (EX6)-NCOA2 (EX12) fusion. In all, 77 cases of primary CNS rhabdomyosarcoma were identified through the meta-review. The demographic data of primary CNS rhabdomyosarcoma were similar to data of rhabdomyosarcoma at all sites. Overall and event-free survival outcomes were available for 64 and 56 patients, respectively, with a 3-year OS of 29.0% and a 3-year EFS of 25.7%. The group that received trimodal treatment exhibited better survival outcomes, with a 3-year OS of 57.4% and a 3-year EFS of 46.3%.

Conclusions

Primary CNS rhabdomyosarcoma shares common histological, molecular, and demographic features with non-CNS rhabdomyosarcoma. A trimodal treatment approach with early introduction of radiation therapy may result in favorable survival outcomes.

中文翻译：

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PAX3-NCOA2融合原发性中枢神经系统胚胎性横纹肌肉瘤一例及系统性荟萃评价

目的

原发性中枢神经系统（CNS）横纹肌肉瘤是一种罕见的间叶性肿瘤，主要见于儿童，预后不良。我们报告了一例PAX3-NCOA2融合的原发性中枢神经系统横纹肌肉瘤病例，并对原发性中枢神经系统横纹肌肉瘤进行了系统的荟萃审查，以表征这种罕见的肿瘤。

方法

我们介绍了一名 6 岁男孩在后颅窝患有原发性中枢神经系统横纹肌肉瘤的病例。在一项系统的荟萃审查中，我们将原发性中枢神经系统横纹肌肉瘤的人口统计学数据与 SEER 数据库中所有部位的横纹肌肉瘤数据进行比较，并分析与生存结果相关的临床因素。

结果

我们的患者接受了大体全切除术，并接受了长春新碱、放线菌素-D、环磷酰胺，同时早期引入了同步局灶性放射治疗，并且在治疗结束后 2 年内仍然存活，没有任何疾病证据。组织病理学检查显示胚胎型横纹肌肉瘤，全转录组分析显示PAX3 (EX6)-NCOA2 (EX12) 融合。总共通过荟萃审查确定了 77 例原发性中枢神经系统横纹肌肉瘤病例。原发性中枢神经系统横纹肌肉瘤的人口统计学数据与所有部位的横纹肌肉瘤数据相似。64 名和 56 名患者分别获得了总体和无事件生存结果，3 年 OS 为 29.0%，3 年 EFS 为 25.7%。接受三联治疗的组表现出更好的生存结果，3 年 OS 为 57.4%，3 年 EFS 为 46.3%。

结论

原发性中枢神经系统横纹肌肉瘤与非中枢神经系统横纹肌肉瘤具有共同的组织学、分子和人口学特征。早期引入放射治疗的三模式治疗方法可能会带来良好的生存结果。