A Retrospective Genomic Landscape of 661 Young Adult Glioblastomas Diagnosed Using 2016 WHO Guidelines for Central Nervous System Tumors

The authors present a cohort of 661 young adult glioblastomas diagnosed using 2016 WHO World Health Organization Classification of Tumors of the Central Nervous System, utilizing comprehensive genomic profiling (CGP) to explore their genomic landscape and assess their relationship to currently defined disease entities. This analysis explored variants with evidence of pathogenic function, common copy number variants (CNVs), and several novel fusion events not described in literature. Tumor mutational burden (TMB) mutational signatures, anatomic location, and tumor recurrence are further explored. Using data collected from CGP, unsupervised machine-learning techniques were leveraged to identify 10 genomic classes in previously assigned young adult glioblastomas. The authors relate these molecular classes to current World Health Organization guidelines and reference current literature to give therapeutic and prognostic descriptions where possible.

Automated summary

This study conducted comprehensive genomic profiling (CGP) on 661 young adult glioblastomas, using the 2016 WHO classification, and identified variants with pathogenic function, common copy number variants (CNVs), and novel fusion events. The study also explored tumor mutational burden (TMB), mutational signatures, anatomic location, and tumor recurrence. Through unsupervised machine learning, 10 genomic classes were identified and related to current guidelines and literature for therapeutic and prognostic descriptions.