Lou Emil, Sumrall Ashley L, Cummings Thomas J, Korones David N, Weaver Susan A, Peters Katherine B
The Preston Robert Tisch Brain Tumor Center at Duke, Duke University Medical Center, Durham, N.C., USA.
Case Rep Oncol. 2012 May;5(2):325-31. doi: 10.1159/000339721. Epub 2012 Jun 21.
The Ewing sarcoma family of tumors comprises a rare class of cancers of mesenchymal origin. Cases of Ewing's sarcoma in the central nervous system - specifically, intracranial Ewing's - are extremely rare. Almost all reported cases have occurred in children. However, this rare presentation can also occur in the adult population. It is important to distinguish these tumors from primitive neuroectodermal tumors at the time of diagnosis. Testing for EWSR1(22q12) gene rearrangement using fluorescence in situ hybridization is a useful tool for making the distinction between these 2 similar but distinct entities. We present here the case of a middle-aged male patient with intracranial Ewing's sarcoma, and discuss diagnostic challenges and potential new treatment approaches for this rare disease.
尤因肉瘤家族性肿瘤是一类罕见的间充质起源的癌症。中枢神经系统尤因肉瘤病例——特别是颅内尤因肉瘤——极为罕见。几乎所有报道的病例都发生在儿童身上。然而，这种罕见的表现也可能发生在成人中。在诊断时将这些肿瘤与原始神经外胚层肿瘤区分开来很重要。使用荧光原位杂交检测EWSR1(22q12)基因重排是区分这两种相似但不同实体的有用工具。我们在此介绍一例中年男性颅内尤因肉瘤患者的病例，并讨论这种罕见疾病的诊断挑战和潜在的新治疗方法。
