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Next generation sequencing identifies different gbm molecular patterns that correlate with clinical and radiological behavior

Cantero D, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Ruano Y, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Sánchez P,Unidad de Neurooncología, Instituto de Salud Carlos III; Gutiérrez-Guamán MJ, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Pérez A, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Meléndez B,Unidad de Patología Molecular, Hospital Virgen de la Salud; Ramos A, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Sepúlveda JM, Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre; Hernández-Laín A,Unidad Multidisciplinar de Neurooncología, Hospital 12 de Octubre


BACKGROUND: Glioblastoma multiforme (GBM), a highly aggressive brain tumor, remains one of the deadliest cancers. There is variability in the clinical and radiological behaviour of GBM; some of them are well circumscribed and others are more infiltrative. Recent advances in genome sequencing technologies, such as next generation sequencing (NGS), provide unique opportunities to identify mutations relevant for diagnosis, prognosis and therapy.
OBJECTIVE: The purpose of this study is to find GBM molecular patterns that correlate with the clinical and radiological behaviour.
MATERIALS AND METHODS:
We performed a prospective study of GBMs diagnosed in our hospital in the last 2 years. The total number of tumors collected was 25. Exome sequencing analysis by NGS was carried out in three GBMs, one with known EGFR amplification, one with IDH-1 and ATRX mutations and one without any molecular alteration in the routine molecular study performed.
In order to validate our results in a larger series of well clinical and radiological characterized GBMs, a sequencing gene panel was used. This panel included a set of genes known to be involved in glioma pathogenesis and also candidate genes detected in our exome sequencing analysis.
RESULTS AND CONCLUSION: The exome and gene panel sequencing results allowed us to find mutations in tumor suppressors and angiogenic-related genes not reported previously in GBM. In addition, we confirmed mutations and copy number variations in genes and chromosomal regions frequently found altered in GBMs. We have found GBM molecular patterns that could be correlated with the radiological and clinical behavior of tumors. Therefore, the NGS is a good high-throughput method for the clinical and molecular stratification of GBM patients.

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