Indolent CLL with a deletion of 17p
Background
Loss and/or mutation of the TP53 gene located on chromosome 17p is usually associated with progressive CLL and a poor response to alkylating agent/purine analogue therapy. However a minority of cases presenting with CD5+ve MBL or Stage A0 CLL have del17p, mutated IGHV genes and stable disease despite complex karyotypic abnormalities and p53 dysfunction.
Goals
- To identify additional cases with 'indolent' del17p disease
- To identify biological differences between these case and those with progressive disease (especially those with mutated IGHV genes)
Approach
- To determine the number and availability of stored samples on suitable patients
- To screen patients for TP53 mutations, P53 dysfunction and IGHV gene mutational status
- Depending on the number of samples available, to compare genomic complexity, DNA methylation, telomere length, gene expression and BCR signalling in stable and IGHV mutated progressive cases with TP53 loss/mutation
Participants
David Oscier, Bournemouth/UK
Paolo Ghia, Milan/Italy
Stephan Stilgenbauer, Ulm/Germany
Thorsten Zenz, Heidelberg/Germany
Richard Rosenquist, Uppsala, Sweden
Kostas Stamatopoulos, Thessaloniki/Greece
Coordination
David Oscier
Bournemouth/UK
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