背景:室管膜瘤是儿科人群中第三大最常见的中枢神经系统肿瘤;然而,儿童脊髓室管膜瘤很少见。影响脊髓的室管膜瘤最常见于20-40岁的成年人。目前世界卫生组织针对室管膜瘤的分类系统现在由10个不同的实体根据组织病理学组成,location,和分子研究,有证据表明新的分类系统更准确地预测临床结果。
方法:我们介绍了一名16岁的白人女性患者,有2型神经纤维瘤和多发性神经鞘瘤的病史,脑膜瘤,和脊髓室管膜瘤.收集的脊髓室管膜瘤肿瘤样本的染色体分析显示46,XX,-6,+7,-22,+mar[16]/46,XX[4]核型。随后对福尔马林固定的石蜡包埋的肿瘤样品的OncoScan微阵列分析证实了+7、-22,并澄清了标记染色体代表具有超过100个断点的整个6号染色体的染色体。荧光原位杂交和微阵列分析没有显示MYCN扩增的证据。最终的综合病理诊断为脊髓室管膜瘤(中枢神经系统世界卫生组织2级,无MYCN扩增。
结论:该病例增加了现有的儿科脊髓室管膜瘤患者的文献,并扩展了可能在这种肿瘤类型患者中看到的细胞遗传学发现。该病例还强调了细胞遗传学和微阵列分析在实体瘤中的价值,以提供更准确的分子诊断。
BACKGROUND: Ependymomas are the third most common central nervous system tumor in the pediatric population; however, spinal ependymomas in children are rare. Ependymomas affecting the spinal cord most frequently occur in adults of 20-40 years of age. The current World Health Organization classification system for ependymomas is now composed of ten different entities based on histopathology, location, and molecular studies, with evidence that the new classification system more accurately predicts clinical outcomes.
METHODS: We present the case of a 16-year-old Caucasian female patient with a history of type 2 neurofibromatosis with multiple schwannomas, meningioma, and spinal ependymoma. Chromosome analysis of the harvested spinal ependymoma tumor sample revealed a 46,XX,-6,+7,-22,+mar[16]/46,XX[4] karyotype. Subsequent OncoScan microarray analysis of the formalin-fixed paraffin-embedded tumor sample confirmed + 7, -22 and clarified that the marker chromosome represents chromothripsis of the entire chromosome 6 with more than 100 breakpoints. Fluorescent in situ hybridization and microarray analysis showed no evidence of MYCN amplification. The final integrated pathology diagnosis was spinal ependymoma (central nervous system World Health Organization grade 2 with no MYCN amplification.
CONCLUSIONS: This case adds to the existing literature of pediatric patients with spinal ependymomas and expands the cytogenetic findings that may be seen in patients with this tumor type. This case also highlights the value of cytogenetics and microarray analysis in solid tumors to provide a more accurate molecular diagnosis.