High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia

Forconi, Francesco, Poretti, Giulia, Kwee, Ivo, Sozzi, Elisa, Rossi, Davide, Rancoita, Paola M. V., Capello, Daniela, Rinaldi, Andrea, Zucca, Emanuele, Raspadori, Donatella, Spina, Valeria, Lauria, Francesco, Gaidano, Gianluca and Bertoni, Francesco (2008) High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia. British Journal of Haematology, 141 (5), 622-630. (doi:10.1111/j.1365-2141.2008.07106.x).

Abstract

Hairy cell leukaemia (HCL) is a rare B-cell neoplasm for which the molecular mechanisms are largely unknown. High-density genome-wide DNA profiling was performed with Affymetrix 250K arrays to analyse copy number (CN) changes and loss of heterozygosity (LOH) in 16 cases of HCL. Four of 16 cases (25%) demonstrated gross non-recurrent CN deletions. Within the affected regions, we identified genes involved in bone marrow fibrosis (FGF12) and response to treatment (TP53) in individual cases. Large regions (>5 Mb) of LOH without any concomitant DNA CN changes were identified in 5/16 (31%) HCL and were indicative of uniparental disomy UD. The germline origin of UD was demonstrated in one case for which a matched normal sample was available. Overall analysis of LOH showed that identical loci were recurrently targeted in chromosomes 1, 2 and 6. As a whole, however, HCL showed a remarkably stable genome. This finding adds to several other features that are unique to HCL among mature B-cell tumours.

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Contributors

Author: Francesco Forconi

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