Annika Wefers

Translational molecular neuropathology and neuro-oncology

Brain tumours are diagnosed according to criteria published by the world health organisation (WHO). As molecular analyses have significantly increased our knowledge on brain tumours over the past years, WHO criteria now include molecular criteria for the diagnosis of some tumour entities. Still, tumorigenesis is often not well understood and targeted therapies are lacking for many tumour entities. Moreover, new brain tumour entities and subgroups of known brain tumour entities are continuously being discovered using molecular methods. These tumours need a comprehensive histological, molecular and clinical characterisation, to allow a concise diagnosis and targeted treatment.

We aim at better characterising both known brain tumour entities as well as “new” brain tumour entities. Currently, we are focussing on gliomas and glioneuronal tumours, for instance a novel group of gliomas harbouring alterations of the MYB or MYBL1 genes (Wefers AK et al., Acta Neuropathol. 2019). We combine a histological, molecular and clinical characterisation of these tumours. To achieve a deep understanding of the biology of these tumours, we do so-called “multi-omics” analyses. This means that results from different (molecular) analyses (i.e. DNA methylation analyses, DNA sequencing, bulk and single-cell RNA-sequencing, ChIP-sequencing, proteomics) are integrated by bioinformatic analyses. Other methods used are histological analyses including immunohistochemistry and fluorescence in situ hybridization (FISH), cell culture and analyses of clinical data.

We also improve analyses of molecular alterations, to more reliably detect known diagnostic and therapeutic markers (Stichel D,… et Wefers AK, Neuropathol. Appl. Neurobiol. 2021).

Results from the projects will be transferred back into diagnostics and clinics. They shall improve diagnostics of brain tumours, e.g. through detection of new markers, help better understand the tumorigenesis and the prognosis of the patients and indicate novel therapeutic targets.