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High density genome‐wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia
Author(s) -
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
Publication year - 2008
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.2008.07106.x
Subject(s) - loss of heterozygosity , biology , genome , uniparental disomy , dna , microbiology and biotechnology , gene , genetics , cancer research , chromosome , karyotype , allele
Summary 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.