全基因组甲基化分析表征胚胎发育异常神经上皮肿瘤(DNET)的恶性转化

D. Heiland, O. Staszewski, M. Hirsch, W. Masalha, P. Franco, J. Grauvogel, D. Capper, D. Schrimpf, H. Urbach, A. Weyerbrock
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引用次数: 27

摘要

胚胎发育异常神经上皮肿瘤(DNET)被认为是罕见的,良性的,并与慢性癫痫相关。我们提出的情况下,28岁的男子癫痫史自12岁。2009年枕骨皮质病变的手术发现了一个DNET。五年后,切除腔边缘的复发肿瘤被切除,组织接受了密集的诊断检查。第一个肿瘤明确表现为DNET,但复发肿瘤的神经病理学诊断显示为胶质母细胞瘤。6个月后,在原发肿瘤附近发现另一个复发肿瘤,也进行了切除。采用Illumina 450k头芯片甲基化阵列对所有肿瘤进行表征。这些肿瘤的甲基化谱与其他胶质母细胞瘤和癫痫相关肿瘤的甲基化谱明显不同,并显示出dnet样甲基化谱。因此,这些复发肿瘤的分子特征提示先前良性DNET的恶性转化。我们发现恶性转化后复发的DNET肿瘤的拷贝数变化增加。现代高通量分析除了标准的组织病理学外,还增加了必要的分子信息,以正确识别具有不寻常临床病程的罕见脑肿瘤。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Malignant Transformation of a Dysembryoplastic Neuroepithelial Tumor (DNET) Characterized by Genome-Wide Methylation Analysis
Dysembryoplastic neuroepithelial tumors (DNET) are considered to be rare, benign, and associated with chronic epilepsy. We present the case of a 28-year-old man with a history of epilepsy since age 12. Surgery of an occipital cortical lesion in 2009 revealed a DNET. Five years later, a recurrent tumor at the edge of the resection cavity was removed, and the tissue underwent an intensive diagnostic workup. The first tumor was unequivocally characterized as a DNET, but neuropathological diagnostics of the recurrent tumor revealed a glioblastoma. After 6 months, another recurrent tumor was detected next to the location of the original tumor, and this was also resected. An Illumina 450 K beadchip methylation array was performed to characterize all of the tumors. The methylation profile of these tumors significantly differed from other glioblastoma and epilepsy-associated tumor profiles and revealed a DNET-like methylation profile. Thus, molecular characterization of these recurrent tumors suggests malignant transformation of a previously benign DNET. We found increased copy number changes in the recurrent DNET tumors after malignant transformation. Modern high-throughput analysis adds essential molecular information in addition to standard histopathology for proper identification of rare brain tumors that present with an unusual clinical course.
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