Molecular characterization of papillary tumors of the pineal region (PTPR)

Basic data for this project

Description

Within the framework of the project "Molecular characterization of papillary tumors of the pineal region" (PTPR) funded by the IMF-Fund (Innovative Medical Research at the Medical Faculty of Münster), a bioinformatics pipeline for DNA sequence data will be developed in close cooperation with the Institute for Neuropathology. Papillary tumors of the pineal region are rare neuroepithelial brain tumors characterized by two distinct epigenetic subgroups and a heterogeneous clinical course. Apart from common chromosomal aberrations and mutations of the PTEN gene, little is known about the molecular pathogenesis of PTPR. The project involves the analysis of whole genome sequencing data obtained from FFPE (formalin-fixed, paraffin-embedded) samples. These samples represent a particular challenge for bioinformatics analyzes because they are characterized by a high number of artifacts. For the detection of mutations in these data, therefore, the development of new, optimized algorithms is necessary.