title: Molecular cytogenetic study of a mantle cell lymphoma with a complex translocation involving the CCND1 (11q13) region.
abstract: We describe a progressive mantle cell lymphoma (MCL) in which multicolor fluorescence in situ hybridization (M-FISH) on metaphases did not detect the characteristic t(11;14)(q13;q32), although translocations of chromosomes 11 with 15, and 14 with 15 were observed. When CCND1/IGH probes were hybridized to metaphases, however, cryptic fusion signals were detected on the der(11) and der(14) sites of CCND1 (11q13) and IGH (14q32), revealing a complex translocation involving chromosomes 11, 14, and 15. Interphase FISH with CCND1/IGH probes revealed varying patterns with one or two fusion signals, and some with no clear evidence of fusion. Loss of 17p and gain of 3q, known to be associated with disease progression in MCL, were detected with M-FISH and confirmed with the use of p53 and BCL6 probes together with comparative genomic hybridization, which detected also an interstitial deletion on 7p21. This case further illustrates the value of M-FISH in combination with fusion probes in elucidating complex cytogenetic abnormalities.
authors.affiliation: Academic Department of Haematology and Cytogenetics, Institute of Cancer Research/Royal Marsden NHS Trust, Fulham Road, London SW3 6JJ, UK.
authors.forename: Sonia
authors.initials: S
authors.lastname: Maravelaki
authors.forename: Anna
authors.initials: A
authors.lastname: Burford
authors.forename: Andrew
authors.initials: A
authors.lastname: Wotherspoon
authors.forename: Rajeev
authors.initials: R
authors.lastname: Joshi
authors.forename: Estela
authors.initials: E
authors.lastname: Matutes
authors.forename: Daniel
authors.initials: D
authors.lastname: Catovsky
authors.forename: Vasantha
authors.initials: V
authors.lastname: Brito-Babapulle
mesh_terms: D019677:Artificial Gene Fusion; D002880:Chromosomes, Human, Pair 11; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007399:Interphase / Q000235:genetics; D020522:Lymphoma, Mantle-Cell / Q000235:genetics*; D008297:Male; D008677:Metaphase / Q000235:genetics; D008875:Middle Aged; D009693:Nucleic Acid Hybridization / Q000379:methods; D014178:Translocation, Genetic
chemical_list: D015342:DNA Probes