Prof. Dr. Andreas von Deimling

Example for development of a diagnostic tool. Our antibody H09 specifically binds to IDH1 protein with the R132H mutation. All tumor cells impose in strong brown color while normal brain tissue is stained blue and grey.

The Clinical Cooperation Unit Neuropathology was founded in 2007. Our research focuses on molecular genetics of pediatric and adult tumors of the central nervous system, the function of neurofibromin, and the molecular reference analysis for brain tumor studies.
Prof. A. Korshunov examines pediatric brain tumors in close cooperation with other groups from the DKFZ with a focus on medulloblastomas, pilocytic astrocytomas and ependymomas. We are participating in the International Cancer Genome Consortium (ICGC).
For adult gliomas our main interest is in diffuse astro- and oligodendroglial tumors characterized by IDH1 mutations. Dr. D. Capper and F. Sahm are characterizing this and other mutations and are developing diagnostic tools for routine applications. Dr. S. Pusch and Dr. J. Balss are conducting research on the function of mutated IDH1.
The tumor syndrome neurofibromatosis type 1 is caused by mutations of the NF1 gene which encodes neurofibromin. Many biological features of neurofibromin are mediated by its RasGAP activity. However, additional functions have been suggested. A group headed by Dr. D. Reuss is uncovering alternative pathways of neurofibromin to inhibit tumor cell growth.
Our molecular diagnostic program is headed by Prof. C. Hartmann and serves multiple clinical studies by providing data such as mutational status of tumor suppressor genes or oncogenes. Our clinical partners compare these data with clinical parameters.

We will contribute to genomic analyses of medulloblastoma and pilocytic astrocytoma within the ICGC: Acquisition of high-quality tumor and matched germline samples according to ICGC guidelines; histopathological assessment; acquisition of clinical data and follow-up information and molecular characterization of samples using previously proposed diagnostic and prognostic markers. In cooperation with DKFZ partners, we have designed a conditional knock-in mouse model for the IDH1-R132H mutation. We will attempt to create mutant IDH1 driven mouse brain tumor models. This likely will require combination with other tumorigenic alterations such as TP53 mutations and tissue specific expression at different times of development.
Future tasks within the NF1 project are to verify our results from cellular models in animal models and to extend our understanding of ptential alternative NF1 pathways. We will use well characterized Nf1 mouse models in which mice develop multiple neurofibromas closely resembling human disease.
In our molecular diagnostic program we attempt to meet the growing demand from our clinical partners within the DKFZ as well as from multicenter studies. We are prepared to adapt our molecular diagnostic assays to the needs of individual study protocols.