Glioma 2021 WHO Classification: The Superiority of NGS Over IHC in Routine Diagnostics.

ABSTRACT:

Introduction

The accurate detection of genetic variants such as single substitutions (IDH1/2, TERT), chromosomal abnormalities (CDKN2A, 1p/19q deletions, and EGFR amplifications), or promoter methylations (MGMT) is critical for glioma patient management, as emphasized in the World Health Organization's (WHO's) most recent classification in 2021 (WHO CNS5). The purpose of this study was to evaluate novel innovative methods for determining IDH1/2 status in the context of WHO CNS5.

Methods

Multiple biomarkers were simultaneously screened using next-generation sequencing (NGS) on 34 glioma samples. In cases where the IDH1/2 status determined by immunohistochemistry (IHC) or multiplex ligation-dependent probe amplification (MLPA) was inconsistent with the NGS results, quantitativ

SUBMITTER: Sledzinska P 

PROVIDER: S-EPMC9626418 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature