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Deciphering the structural complexities of pediatric low grade gliomas

Cancer Genetics and Therapeutics
  • Primary Categories:
    • Cancer
  • Secondary Categories:
    • Cancer
Introduction:
Despite the relatively high success rate of treatment in pediatric patients with low grade gliomas (LGGs), some children have LGGs that behave more aggressively, leading to multiple recurrences, metastasis, and/or death. The reason for this discrepancy is not fully understood but may be due to the underlying differences in genomic composition. Limitations of short-read sequencing in structural variant (SV) identification present gaps in our understanding of variants that may influence tumor behavior and treatment response.

Methods:
Here, we used optical genome mapping (OGM) to detect structural variants in 10 aggressive (postmortem, metastatic, or recurrent following standard of care therapy) and 10 non-aggressive (surgery alone) LGG samples.

Results:
The initial sample processing and analysis focused on samples for which KIAA1549::BRAF fusion was identified previously and samples for which the fusion was not present. OGM analysis successfully identified the KIAA1549::BRAF fusion in LGG samples with varying number of variant allele fraction (VAF) supporting that LGG patients have different degrees of cell compositions carrying the KIAA1549::BRAF fusion. Further stratification of samples based on aggressive vs non-aggressive tumor behavior showed that aggressive tumors contain more SVs, including large chromosomal aberrations, than their non-aggressive counterparts.

Conclusion:
Our preliminary data demonstrate that the application of OGM in metastatic, refractory, and recurrent pediatric LGGs to define SV patterns could elucidate novel mechanisms involved in tumor behavior.  

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