TY - JOUR
T1 - Molecular tools for the pathologic diagnosis of central nervous system tumors
AU - Priesterbach-Ackley, Loudy P.
AU - Wesseling, Pieter
AU - Snijders, Tom J.
AU - de Vos, Filip Y. F. L.
AU - de Leng, Wendy W. J.
PY - 2019
Y1 - 2019
N2 - 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.
AB - 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.
KW - diagnosis
KW - epigenetics
KW - genetic alterations
KW - molecular pathology
KW - neuro-oncology
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062401316&origin=inward
U2 - https://doi.org/10.1093/nop/npy041
DO - https://doi.org/10.1093/nop/npy041
M3 - Article
C2 - 31386041
SN - 2054-2577
VL - 6
SP - 4
EP - 16
JO - Neuro-oncology practice
JF - Neuro-oncology practice
IS - 1
ER -