Year: 2023
Type: article
Abstract: The identification and characterization of the landscape of somatic alterations that drive the formation of pediatric low-grade gliomas (pLGGs)1–5 has rapidly paved the path for precision medicine approaches for children diagnosed with these debilitating tumors. However, these approaches require diagnostic approaches with sufficient sensitivity and specificity to identify driver events within individual tumors, thus facilitating accurate diagnosis of pLGGs within a timeframe that is clinically relevant. Moreover, it is also imperative to understand the therapeutic and prognostic implications associated with identified somatic events, to guide management decisions in the clinical setting. To facilitate this, the LOGGIC Core Bioclinical Data Bank (LOGGIC Core) was established as a multi-institute and international registry, with the goal of collecting histopathological, clinical, and molecular data from pLGGs. In this issue of Neuro-Oncology, Hardin et al.6 present the first outcomes from the LOGGIC Core, highlighting promise associated with RNA-sequencing in enhancing diagnoses of pLGGs. The feasibility of timely and accurate integrative molecular characterization of pediatric brain tumors through the use of methylation profiling and classification, combined with targeted DNA-sequencing was recently demonstrated in the setting of an international clinical trial.7 However, the identification of driver events in pLGGs specifically can be particularly challenging, as these gliomas frequently harbor single-driver events including structural variants with intronic breakpoints that are not detected by exome-based DNA-sequencing approaches. Thus, DNA-sequencing assays need sufficient coverage of introns associated with recurrent structural variants, and/or the integrative approach requires RNA-based assays to detect aberrant expression of fusion proteins associated with driver structural variants. To this end, the LOGGIC Core expanded the molecular characterization of pLGGs to include transcriptome-wide RNA-sequencing, obtained from fresh-frozen samples.
Source: Neuro-Oncology
Authors: April Apfelbaum, Pratiti Bandopadhayay
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4385514136