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
Sezione Ematologia e Trapianti, Università di Siena, Italy.
Br J Haematol. 2008 May;141(5):622-30. doi: 10.1111/j.1365-2141.2008.07106.x. Epub 2008 Apr 7.
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.
