Cha Yoon Jin, Kim Se Hoon, Kim Na Rae
Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
Department of Pathology, Gachon University Gil Medical Center, Incheon, Korea.
J Pathol Transl Med. 2020 Mar;54(2):165-170. doi: 10.4132/jptm.2020.02.04. Epub 2020 Feb 20.
The revised 4th 2016 World Health Organization (WHO) classification of tumors of the central nervous system (CNS) classification has adopted integrated diagnosis encompassing the histology and molecular features of CNS tumors. We aimed to investigate the immunohistochemistry, molecular testing, and testing methods for diagnosis of CNS tumors in pathological labs of tertiary centers in Korea, and evaluate the adequacy of tests for proper diagnosis in daily practice.
A survey, composed of eight questions concerning molecular testing for diagnosis of CNS tumors, was sent to 10 neuropathologists working in tertiary centers in Korea.
For diagnosis of astrocytic and oligodendroglial tumors, all 10 centers performed isocitrate dehydrogenase mutations testing and 1p/19q loss of heterozygosity. For glioneuronal tumors, immunohistochemistry (IHC) assays for synaptophysin (n = 9), CD34 (n = 7), BRAF(VE1) (n = 5) were used. For embryonal tumors, particularly in medulloblastoma, four respondents used IHC panel (growth factor receptor bound protein 2-associated protein 1, filamin A, and yes-associated protein 1) for molecular subclassification. Regarding meningioma, all respondents performed Ki-67 IHC and five performed telomerase reverse transcriptase promoter mutation.
Most tertiary centers made proper diagnosis in line with 2016 WHO classification. As classification of CNS tumors has evolved to be more complex and more ancillary tests are required, these should be performed considering the effect of necessity and justification.
2016年世界卫生组织(WHO)中枢神经系统(CNS)肿瘤分类第4版修订版采用了涵盖CNS肿瘤组织学和分子特征的综合诊断方法。我们旨在调查韩国三级中心病理实验室中用于诊断CNS肿瘤的免疫组织化学、分子检测及检测方法,并评估日常实践中诊断性检测的充分性。
向在韩国三级中心工作的10位神经病理学家发送了一份由8个关于CNS肿瘤诊断分子检测问题组成的调查问卷。
对于星形细胞和少突胶质细胞瘤的诊断,所有10个中心均进行了异柠檬酸脱氢酶突变检测和1p/19q杂合性缺失检测。对于神经胶质神经元肿瘤,使用了针对突触素(n = 9)、CD34(n = 7)、BRAF(VE1)(n = 5)的免疫组织化学(IHC)检测。对于胚胎性肿瘤,特别是髓母细胞瘤,4位受访者使用IHC检测组合(生长因子受体结合蛋白2相关蛋白1、细丝蛋白A和Yes相关蛋白1)进行分子亚分类。关于脑膜瘤,所有受访者均进行了Ki-67 IHC检测,5位进行了端粒酶逆转录酶启动子突变检测。
大多数三级中心根据2016年WHO分类做出了正确诊断。由于CNS肿瘤分类已变得更加复杂,需要更多辅助检测,因此应在考虑必要性和合理性影响的情况下进行这些检测。