Embryonal tumours with multilayered rosettes (ETMR)

Brain cancer is the second most frequent type of cancer in children, and the first cause of tumor-related infantile death worldwide. Some of these cancers are rare, but extremely lethal. One of the main reasons for their lack of cure or effective treatment is precisely because they affect very few children, and thus have received little attention and have been poorly investigated. One of these rare pediatric cerebral cancers is called ETMR, characterized by the presence of a large solid tumor in the brain filled with spheres of mitotic stem cells, similar to those in the brain of normal embryos but dividing indefinitely and causing tumor growth. In our laboratory we have generated a mutant mouse that, for the first time, develops tumors similar to ETMR in children. A very important aspect is that the cellular and genetic characteristics of tumors in this mouse are very similar to ETMR. Hence, we hypothesize that this new mutant mouse may be a good and faithful model of ETMR, useful to discover an effective treatment for this cancer. To test this hypothesis, in this project we will perform three main activities: 1) To compare in full detail the characteristics of our mouse with ETMR tumors. 2) To discover the cell type in normal embryos that transforms and begins forming the tumor in children with ETMR, and which genes or molecules are altered. 3) To profit from the knowledge gained from our previous activities to design and test new treatments that may reduce or stall the growth of these tumors in our mutant mice. Discoveries from this project will inform how and why ETMR tumors form, and will provide information critical to design effective treatments against this terrible pediatric disease, with devastating effects on children and their families. This research project is currently funded by the Fundacion Científica Asociacion Española Contra el Cáncer (FC AECC).