Central diagnostics, genomics and biobanking

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Studies in in-depth characterized primary patient material are needed to discover key driver molecules with significant biological and clinical relevance in CLL. Accordingly, it is indispensable to prove new discoveries being dependent or independent of molecular prognostic parameters which have been established previously in CLL. In order to provide all scientists of the CRU-286 with well-defined samples of primary human and murine CLL cells, central diagnostics, genomic analyses and biobanking will be performed within this core project 2 (CP2). Advanced platforms for immunophenotyping, virtual microscopy, image analysis and storing, and advanced translational genomics have been established as collaborative structures at the Institute of Pathology (R. Büttner), the Cologne Center for Genomics (P. Nürnberg) and the Department I of Internal Medicine (Hematology/Oncology, K.-A. Kreuzer, C. Schweighofer). Peripheral blood, bone marrow and tissue specimens including lymph nodes will be morphologically diagnosed and undergo a systematic diagnostic work-up including immunophenotyping, somatic mutation analyses (i.e., TP53, IGHV), fluorescence-in-situ hybridization, and conventional cytogenetics. Further, appropriate protein and nucleic acid extracts will be stored centrally under appropriate data protection and safety requirements. Using a fully operational genomics unit, on-demand whole-genome-, exome, or target enriched gene extracts will undergo deep sequencing with parallel transcriptome and single nucleotide variant (SNV) analyses. The use of patient specimen treated and followed at the University Hospital Cologne (UHC)/Center of Integrated Oncology (CIO) and within clinical trials of the German CLL Study Group (GCLLSG), will provide us with the unique opportunity to study combined clinical and molecular data from CLL patients metachronically over their entire disease course.