Exploring the possible role of mutations in MTOR pathway genes in the pathogenesis of DNET tumors.

The access to the CBTTC samples will allow to investigate the role of DNA mutations in the mTOR pathway genes in the pathogenesis of DNET tumors and to clarify their possible connection with BRAF or FGFR1 alterations. The use of histologically characterized DNET samples will also permit to test if the FGFR2-INA fusion gene, previously identified in unclassified glioneuronal tumors, represent a common feature of DNETs. Since our approach is addressed towards deep characterization of a restricted number of genes, by accessing to CBTT biobank we will also be able to integrate our results with those already generated by WGS and annotated in the Pedcbio portal.