Mazur Melissa A, Gururangan Sridharan, Bridge Julia A, Cummings Thomas J, Mukundan Srinivasan, Fuchs Herbert, Larrier Nicole, Halperin Edward C
Department of Pediatric Hematology-Oncology, Duke University Medical Center, Durham, NC 27710, USA.
Pediatr Blood Cancer. 2005 Nov;45(6):850-6. doi: 10.1002/pbc.20430.
The occurrence of primary extraosseous Ewing sarcoma (EES) of the central nervous system (CNS) has only rarely been reported in the literature. It is important to distinguish this entity from the more common central primitive neuroectodermal tumor (PNET) of brain, since the management of these tumors is different from that of EES. We present the clinical, radiologic, and pathologic features of two cases of EES occurring in the brain. The diagnosis was further confirmed by detection of a rearrangement of the FLI1 and/or EWS gene loci in tumors from both patients using fluorescent in situ hybridization (FISH). Although rare, the possibility of EES should be considered particularly when tumors that arise near the meningeal surface of the brain and have the pathologic appearance of a PNET. Demonstration of t(11;22)(q24;q12) by molecular analysis essentially confirms the diagnosis and enables the oncologist to choose appropriate therapy.
中枢神经系统（CNS）原发性骨外尤因肉瘤（EES）的发生在文献中仅有极少报道。将该实体与更常见的脑原发性原始神经外胚层肿瘤（PNET）区分开来很重要，因为这些肿瘤的治疗方法与EES不同。我们展示了两例发生在脑内的EES的临床、放射学和病理学特征。通过使用荧光原位杂交（FISH）检测两名患者肿瘤中FLI1和/或EWS基因位点的重排，进一步证实了诊断。尽管罕见，但尤其当肿瘤出现在脑脑膜表面附近且具有PNET的病理表现时，应考虑EES的可能性。通过分子分析证实t(11;22)(q24;q12)基本上可确诊，并使肿瘤学家能够选择合适的治疗方法。
