TY - JOUR
T1 - High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia
AU - Forconi, Francesco
AU - Poretti, Giulia
AU - Kwee, Ivo
AU - Sozzi, Elisa
AU - Rossi, Davide
AU - Rancoita, Paola M V
AU - Capello, Daniela
AU - Rinaldi, Andrea
AU - Zucca, Emanuele
AU - Raspadori, Donatella
AU - Spina, Valeria
AU - Lauria, Francesco
AU - Gaidano, Gianluca
AU - Bertoni, Francesco
PY - 2008/6
Y1 - 2008/6
N2 - 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.
AB - 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.
KW - B-cell neoplasms
KW - Gene arrays
KW - Genome-wide DNA profile
KW - Hairy cell leukaemia
KW - Whole comparative genomic hybridization
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U2 - 10.1111/j.1365-2141.2008.07106.x
DO - 10.1111/j.1365-2141.2008.07106.x
M3 - Article
C2 - 18397341
AN - SCOPUS:43449135916
SN - 0007-1048
VL - 141
SP - 622
EP - 630
JO - British Journal of Haematology
JF - British Journal of Haematology
IS - 5
ER -