RT info:eu-repo/semantics/article
T1 Whole-exome sequencing, EGFR amplification and infiltration  patterns in human glioblastoma
A1 López Ginés, Concha
A1 Muñoz-Hidalgo, Lisandra
A1 San-Miguel, Teresa
A1 Megías Vericat, Javier
A1 Triviño, Juan Carlos
A1 Calabuig-Fariñas, Silvia
A1 Roldán, Pedro
A1 Cerdá-Nicolás, Miguel J.
A1 Monleón, Daniel
K1 glioblastoma (GBM)
K1 EGFR amplification
K1 Whole exome sequencing
K1 Infiltration patterns
K1 FISH
K1 Somatic mutation
AB Glioblastoma (GBM) is the most common malignant primary brain tumor in adults. This cancer showsrapid, highly infiltrative growth, that invades individually or in small groups the surrounding tissue. The aggressive tumor biology of GBM has devastating consequences with a median survival of 15 months. GBM often has EpidermalGrowth Factor Receptor (EGFR) abnormalities. Despite recent advances in the study of GBM tumor biology, it isunclear whether mutations in GBM are related to EGFR amplification and relevant phenotypes like tumor infiltration.This study aimed to perform whole-exome sequencing analysis in 30 human GBM samples for identifying mutational portraits associated with EGFR amplification and infiltrative patterns. Our results show that EGFR-amplifiedtumors have overall higher mutation rates than EGFR-no-amplified. Six genes out of 2029 candidate genes showmutations associated with EGFR amplification status. Mutations in these genes for GBM are novel, not previouslyreported in GBM, and with little presence in the TCGA database. GPR179, USP48, and BLK show mutation only inEGFR-amplified cases, and all the affected cases exhibit diffuse infiltrative patterns. On the other hand, mutationsin ADGB, EHHADH, and PTPN13, were present only in the EGFR-no-amplified group with a more diverse infiltrativephenotype. Overall, our work identified different mutational portraits of GBM related to well-established features likeEGFR amplification and tumor infiltration.
SN 2156-6976
YR 2021
FD 2021
LK http://riull.ull.es/xmlui/handle/915/36153
UL http://riull.ull.es/xmlui/handle/915/36153
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 27-dic-2024