A custom next-generation sequencing panel for 1p/19q codeletion and mutational analysis in gliomas

Area of Science:

• Oncology
• Molecular Diagnostics
• Genetics

Background:

• The World Health Organization (WHO) updated glioma classification, integrating molecular markers like 1p/19q codeletion with histology.
• Fluorescence in situ hybridization (FISH) is the standard for 1p/19q codeletion analysis.

Purpose of the Study:

• To develop and validate a 57-gene targeted next-generation sequencing (NGS) panel for glioma diagnosis.
• To assess the panel's ability to detect 1p/19q codeletion and mutations simultaneously.

Main Methods:

• A 57-gene targeted NGS panel was designed for 1p/19q codeletion detection.
• Loss of heterozygosity analysis using NGS was performed on 37 formalin-fixed paraffin-embedded glioma tissues previously analyzed by FISH.
• Conventional methods validated specific glioma-related gene mutations.

Main Results:

• NGS showed high concordance with FISH for 1p and 19q status (81.1% and 94.6% agreement, respectively).
• Concordance for 1p/19q codeletion was 94.7% and for no codeletion was 94.4%.
• Overall, NGS results demonstrated high concordance with conventional methods.

Conclusions:

• The developed NGS panel provides a reliable method for simultaneous analysis of 1p/19q codeletion and gene mutations in gliomas.
• This NGS approach supports accurate glioma classification and potential treatment response assessment.