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

Francesco Forconi, Giulia Poretti, Ivo Kwee, Elisa Sozzi, Davide Rossi, Paola M V Rancoita, Daniela Capello, Andrea Rinaldi, Emanuele Zucca, Donatella Raspadori, Valeria Spina, Francesco Lauria, Gianluca Gaidano, Francesco Bertoni

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)622-630
Number of pages9
JournalBritish Journal of Haematology
Issue number5
Publication statusPublished - Jun 2008


  • B-cell neoplasms
  • Gene arrays
  • Genome-wide DNA profile
  • Hairy cell leukaemia
  • Whole comparative genomic hybridization

ASJC Scopus subject areas

  • Hematology


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