Identification of recurrent molecular alterations involved in the pathogenesis of choroid plexus tumors

• Applicant: Dr. Christian Thomas
• Subject Area: Molecular and Cellular Neurology and Neuropathology
• Term: from 2018 to 2022
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 411331651

Choroid plexus tumors (CPT) are rare brain tumors derived from the choroid plexus epithelium and predominantly occurring in young children and adolescents. CPT comprise different histologic and epigenetic subgroups with variable clinical outcome. The underlying biology and molecular alterations of these tumors remain poorly understood. The aim of our project is to define the molecular landscape of CPT and to identify novel actionable molecular alterations being involved in the pathogenesis of CPT. In particular, (1) we aim to perform RNA sequencing and whole genome sequencing in a large cohort of CPT across all histological and molecular subgroups, (2) validate recurrent variants by direct sequencing and (3) examine their functional role on proliferation and apoptosis in cell culture experiments. Finally, we will (4) explore how novel mutations might explain the clinical and epigenetic heterogeneity of choroid plexus tumors. The results of this project will contribute to a better understanding of choroid plexus tumor pathogenesis. In the long term, the results are expected to aid the development of diagnostic and prognostic markers and improvement of treatment stratification for patients with choroid plexus tumors.

• DFG Programme: Research Grants