title: High density genome-wide DNA profiling reveals a remarkably stable profile in hairy cell leukaemia.
abstract: 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.
authors.affiliation: Sezione Ematologia e Trapianti, Università di Siena, Italy. forconif@unisi.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Forconi
authors.forename: Giulia
authors.initials: G
authors.lastname: Poretti
authors.forename: Ivo
authors.initials: I
authors.lastname: Kwee
authors.forename: Elisa
authors.initials: E
authors.lastname: Sozzi
authors.forename: Davide
authors.initials: D
authors.lastname: Rossi
authors.forename: Paola M V
authors.initials: PM
authors.lastname: Rancoita
authors.forename: Daniela
authors.initials: D
authors.lastname: Capello
authors.forename: Andrea
authors.initials: A
authors.lastname: Rinaldi
authors.forename: Emanuele
authors.initials: E
authors.lastname: Zucca
authors.forename: Donatella
authors.initials: D
authors.lastname: Raspadori
authors.forename: Valeria
authors.initials: V
authors.lastname: Spina
authors.forename: Francesco
authors.initials: F
authors.lastname: Lauria
authors.forename: Gianluca
authors.initials: G
authors.lastname: Gaidano
authors.forename: Francesco
authors.initials: F
authors.lastname: Bertoni
mesh_terms: D000328:Adult; D000368:Aged; D016172:DNA Fingerprinting / Q000379:methods; D004273:DNA, Neoplasm / Q000235:genetics*; D005260:Female; D005346:Fibroblast Growth Factors / Q000096:biosynthesis / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D016130:Immunophenotyping; D007943:Leukemia, Hairy Cell / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods
chemical_list: D004273:DNA, Neoplasm; C486356:FGF12 protein, human; D009363:Neoplasm Proteins; D005346:Fibroblast Growth Factors