RNA sequencing can reveal driver mutations in pediatric low-grade glioma (LGG) that are not detected via other methods, according to researchers. 

In analyzing samples from the Low Grade Glioma in Children (LOGGIC) Core BioClinical Data Bank, researchers found that RNA sequencing could improve diagnostic accuracy.

These findings were presented at the 20th International Symposium on Pediatric Neuro-Oncology (ISPNO) by Emily C. Hardin, a medical student at Hopp Children’s Cancer Center Heidelberg in Germany.

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Hardin explained that the LOGGIC Core BioClinical Data Bank is an international registry that was created to enhance the understanding of tumor biology, correlate molecular subgroups with clinical outcomes, and lay the foundation for targeted interventional trials that provide first- and second-line treatment options for pediatric patients with LGG. 

For the current study, Hardin and colleagues performed RNA sequencing on 125 fresh frozen (FF) tissue samples from patients in the registry. All patients were younger than 21 years of age. 

RNA sequencing confirmed the alterations most frequently described in LGG. Common mutations included KIAA1549:BRAF fusions (56.8%), FGFR alterations (10.4%), and BRAFV600E mutations (8.8%). 

In addition, the researchers found rare gene fusions, such as TPM3:NTRK1 and EWSR1:VGLL1, in 12% of patients. 

In 24 cases, RNA sequencing identified driver mutations not found via gene panel or copy number variation analysis.

These results suggest that RNA sequencing can reveal clinically relevant alterations, improve diagnostic accuracy, and make currently actionable targets for LGG more accessible to patients, Hardin concluded.


Hardin EC, Schmid S, Sommerkamp A, et al. LOGGIC (Low Grade Glioma in Children) Core BioClinical Data Bank: Establishment and added clinical value of an international molecular diagnostic registry for pediatric low-grade glioma patients. Presented at ISPNO 2022; June 12-15, 2022. Abstract LGG-14.