Molecular tools for the pathologic diagnosis of central nervous system tumors

被引:8
|
作者
Priesterbach-Ackley, Loudy P. [1 ]
Wesseling, Pieter [2 ,3 ,4 ]
Snijders, Tom J. [5 ]
de Vos, Filip Y. F. L. [6 ]
de Leng, Wendy W. J. [1 ]
机构
[1] Univ Med Ctr Utrecht, Dept Pathol, Internal Mail H04-312,POB 85500, NL-3508 GA Utrecht, Netherlands
[2] Princess Maxima Ctr Pediat Oncol, Dept Pathol, Utrecht, Netherlands
[3] Univ Med Ctr Utrecht, Utrecht, Netherlands
[4] Vrije Univ Amsterdam, Dept Pathol, Med Ctr, Brain Tumor Ctr Amsterdam, Amsterdam, Netherlands
[5] Univ Med Ctr Utrecht, Dept Neurol, Brain Ctr Rudolf Magnus, Utrecht, Netherlands
[6] Univ Med Ctr Utrecht, Dept Med Oncol, Utrecht, Netherlands
关键词
diagnosis; epigenetics; genetic alterations; molecular pathology; neuro-oncology; DEPENDENT PROBE AMPLIFICATION; MGMT METHYLATION STATUS; PROMOTER METHYLATION; 2016; CLASSIFICATION; MS-MLPA; DNA; IMMUNOHISTOCHEMISTRY; GLIOMAS; PCR; GLIOBLASTOMA;
D O I
10.1093/nop/npy041
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Molecular diagnostics currently has a crucial role in neuro-oncological patient care. (Epi) genetic assays testing for point mutations, copy number variations, gene fusions, translocations, and methylation status are of main diagnostic interest in neuro-oncology. Multiple assays have been developed for this purpose, ranging from single gene tests to high-throughput, integrated techniques enabling detection of multiple genetic aberrations in a single workflow. This review describes the nature of the simpler and more complex assays for molecular diagnostics of tumors of the central nervous system and briefly discusses their strengths and weaknesses.
引用
收藏
页码:4 / 16
页数:13
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