British journal of haematology · 2008
High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia.
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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, Bertoni Francesco
Аннотация
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.