Department of Pathology, Siriraj Hospital, Bangkok, Thailand.
Neuropathology. 2012 Jun;32(3):293-300. doi: 10.1111/j.1440-1789.2011.01258.x. Epub 2011 Oct 18.
The occurrence of Ewing sarcoma-peripheral primitive neuroectodermal tumor as a primary intracranial tumor is very rare, with only 29 cases reported in the literature, 19 of which have included molecular studies. We present the clinical, radiologic and pathologic findings of an intracranial Ewing sarcoma in a 22-year-old woman arising from the dura over the right frontal convexity. The patient underwent craniotomy with gross total excision of the tumor. The tumor showed atypical histology and the diagnosis was confirmed by detection of a rearrangement of the EWSR1 gene by fluorescent in situ hybridization and identification of the diagnostic t(11;22)(q24;q12) translocation by reverse transcription-polymerase chain reaction. Additional features were detected in this tumor that are known to be associated with an unfavorable prognosis, including loss of p16 expression and gains of chromosomes 1q and 12. The patient experienced the most rapid downhill course reported to date for intracranial Ewing sarcoma, developing multiple extracranial metastases at 2 months and dying 6 months after the initial operation.
尤文肉瘤/外周原始神经外胚层肿瘤作为颅内原发性肿瘤非常罕见,文献中仅报道了 29 例,其中 19 例进行了分子研究。我们报告了一例发生于右额凸骨脑膜的 22 岁女性颅内尤文肉瘤的临床、影像学和病理学表现。患者接受了开颅手术,肿瘤被大体全切除。肿瘤表现为非典型组织学特征,通过荧光原位杂交检测到 EWSR1 基因重排,通过逆转录-聚合酶链反应鉴定诊断性 t(11;22)(q24;q12)易位,从而确诊。该肿瘤还存在已知与不良预后相关的其他特征,包括 p16 表达缺失和 1q 和 12 号染色体获得。该患者经历了迄今为止报告的颅内尤文肉瘤最迅速的病情恶化过程,在初始手术 2 个月后出现多发颅外转移,并在术后 6 个月死亡。