Halliday Gail C, Junckerstorff Reimar C, Bentel Jacqueline M, Miles Andrew, Jones David T W, Hovestadt Volker, Capper David, Endersby Raelene, Cole Catherine H, van Hagen Tom, Gottardo Nicholas G
Department of Haematology and Oncology, Princess Margaret Hospital for Children, Perth, Western Australia, Australia.
Section of Neuropathology, PathWest Laboratory Medicine, Royal Perth Hospital, Perth, Western Australia, Australia; School of Pathology and Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia.
J Clin Neurosci. 2018 Jan;47:163-167. doi: 10.1016/j.jocn.2017.09.013. Epub 2017 Oct 6.
Central nervous system primitive neuro-ectodermal tumors (CNS-PNETs), have recently been re-classified in the most recent 2016 WHO Classification into a standby catch all category, "CNS Embryonal Tumor, not otherwise specified" (CNS embryonal tumor, NOS) based on epigenetic, biologic and histopathologic criteria. CNS embryonal tumors (NOS) are a rare, histologically and molecularly heterogeneous group of tumors that predominantly affect children, and occasionally adults. Diagnosis of this entity continues to be challenging and the ramifications of misdiagnosis of this aggressive class of brain tumors are significant. We report the case of a 45-year-old woman who was diagnosed with a central nervous system embryonal tumor (NOS) based on immunohistochemical analysis of the patient's tumor at diagnosis. However, later genome-wide methylation profiling of the diagnostic tumor undertaken to guide treatment, revealed characteristics most consistent with IDH-mutant astrocytoma. DNA sequencing and immunohistochemistry confirmed the presence of IDH1 and ATRX mutations resulting in a revised diagnosis of high-grade small cell astrocytoma, and the implementation of a less aggressive treatment regime tailored more appropriately to the patient's tumor type. This case highlights the inadequacy of histology alone for the diagnosis of brain tumours and the utility of methylation profiling and integrated genomic analysis for the diagnostic verification of adults with suspected CNS embryonal tumor (NOS), and is consistent with the increasing realization in the field that a combined diagnostic approach based on clinical, histopathological and molecular data is required to more accurately distinguish brain tumor subtypes and inform more effective therapy.
中枢神经系统原始神经外胚层肿瘤（CNS-PNETs），最近在2016年世界卫生组织（WHO）最新分类中被重新归类为一个备用的笼统类别，即“未另行指定的中枢神经系统胚胎性肿瘤”（CNS胚胎性肿瘤，NOS），该分类基于表观遗传学、生物学和组织病理学标准。CNS胚胎性肿瘤（NOS）是一组罕见的肿瘤，在组织学和分子层面具有异质性，主要影响儿童，偶尔也会影响成年人。对该实体的诊断仍然具有挑战性，而误诊这类侵袭性脑肿瘤的后果很严重。我们报告了一例45岁女性患者的病例，该患者在诊断时通过对其肿瘤进行免疫组化分析被诊断为中枢神经系统胚胎性肿瘤（NOS）。然而，后来为指导治疗对诊断性肿瘤进行的全基因组甲基化分析显示，其特征与异柠檬酸脱氢酶（IDH）突变型星形细胞瘤最为一致。DNA测序和免疫组化证实了IDH1和ATRX突变的存在，从而将诊断修正为高级别小细胞星形细胞瘤，并实施了更适合患者肿瘤类型的侵袭性较小的治疗方案。该病例凸显了仅靠组织学诊断脑肿瘤的不足，以及甲基化分析和综合基因组分析在疑似CNS胚胎性肿瘤（NOS）成年患者诊断验证中的作用，这与该领域越来越多的认识一致，即需要基于临床、组织病理学和分子数据的联合诊断方法，以更准确地区分脑肿瘤亚型并指导更有效的治疗。
