IP: Dra. María Dolores Tabernero Redondo

Resumen del proyecto: Meningiomas are the most common primary brain tumors of the nervous system. They originate in the arachnoid meninges and adhere to the dura mater. The genes that originate the neoplasm and the responsible genes for its evolution (which occurs in 20% of tumors with the presence of relapses) are unknown. Previous studies have only been able to report the existence of a small percentage of mutations in a small number of genes candidates as NF2 gene. This tumor suppressor gene can be found mutated in approximately 1/3 of the meningiomas, but the full spectrum of genetic changes remains undefined. The whole exome sequencing (WES) is one of the new approaches that make possible the sequencing of the coding part of the genome, which contains 90% of the mutations that could cause the disease. Therefore, in this project we propose to carry out the exome sequencing in 35 meningiomas, subclassified into three genetic groups: 10 diploid meningiomas, 10 meningiomas that lose a chromosome 22 and 15 meningiomas with complex karyotype to: firstly identify common mutational events throughout the exome to know the complete genetic spectrum of meningiomas; secondly) to establish patterns of mutations in the different genetic subtypes; and 3) relate the gene variants with the prognosis, or clinical course and the presence of relapses. The DNA of the tumors will be analyzed and compared with normal human genome reference (1000 genomes) and in addition as a control we will use peripheral blood from 3 patients. The project will contribute to the biological knowledge of this type of tumors if we identify genes that drive tumorigenesis and / or genes responsible for recurrences in meningiomas.

Entidad financiadora: Instituto de Investigación Biomédica de Salamanca (IBSAL)