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2017 ; 51
(3
): 205-223
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Molecular Testing of Brain Tumor
#MMPMID28535583
Park SH
; Won J
; Kim SI
; Lee Y
; Park CK
; Kim SK
; Choi SH
J Pathol Transl Med
2017[May]; 51
(3
): 205-223
PMID28535583
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The World Health Organization (WHO) classification of central nervous system
(CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of
molecular genetics. We herein provide the guidelines for using molecular genetic
tests in routine pathological practice for an accurate diagnosis and appropriate
management. While astrocytomas and IDH-mutant (secondary) glioblastomas are
characterized by the mutational status of IDH, TP53 , and ATRX ,
oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC , FUBP1 ,
and the promoter region of telomerase reverse transcriptase ( TERTp ).
IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are
characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA , and NF1
as well as mutations of TERTp . High-grade pediatric gliomas differ from those of
adult gliomas, consisting of mutations in H3F3A, ATRX , and DAXX , but not in IDH
genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in
children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and
ganglioglioma, often have mutations or activating rearrangements in the BRAF,
FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and
glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal
tumors have important genetic alterations, many of which are diagnostic,
prognostic, and predictive markers and therapeutic targets. Therefore, the
neuropathological evaluation of brain tumors is increasingly dependent on
molecular genetic tests for proper classification, prediction of biological
behavior and patient management. Identifying these gene abnormalities requires
cost-effective and high-throughput testing, such as next-generation sequencing.
Overall, this paper reviews the global guidelines and diagnostic algorithms for
molecular genetic testing of brain tumors.
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