title: Detection of t(11;14) using interphase molecular cytogenetics in mantle cell lymphoma and atypical chronic lymphocytic leukemia.
abstract: The chromosomal translocation t(11;14)(q13;q32) fuses the IGH and CCND1 genes and leads to cyclin D1 overexpression. This genetic abnormality is the hallmark of mantle cell lymphoma (MCL), but is also found in some cases of atypical chronic lymphocytic leukemia (CLL), characterized by a poor outcome. For an unequivocal assessment of this specific chromosomal rearrangement on interphase cells, we developed a set of probes for fluorescence in situ hybridization (FISH). Northern blotting was performed for analysis of the cyclin D1 expression in 18 patients. Thirty-eight patients, with either a typical MCL leukemic phase (17 patients) or atypical CLL with an MCL-type immunophenotype, i.e., CD19-, CD5+, CD23-/low, CD79b/sIgM(D)++, and FMC7+ (21 patients), were analyzed by dual-color interphase FISH. We selected an IGH-specific BAC probe (covering the JH and first constant regions) and a commercially available CCND1 probe. An IGH-CCND1 fusion was detected in 28 of the 38 patients (17 typical MCL and 11 cases with CLL). Cyclin D1 was not overexpressed in two patients with typical MCL and an IGH-CCND1 fusion. In view of the poor prognosis associated with MCL and t(11;14)-positive CLL, we conclude that this set of probes is a valuable and reliable tool for a rapid diagnosis of these entities.
authors.affiliation: Laboratory of Hematology, University Hospital, Nantes, France.
authors.forename: H
authors.initials: H
authors.lastname: Avet-Loiseau
authors.forename: R
authors.initials: R
authors.lastname: Garand
authors.forename: F
authors.initials: F
authors.lastname: Gaillard
authors.forename: A
authors.initials: A
authors.lastname: Daviet
authors.forename: M P
authors.initials: MP
authors.lastname: Mellerin
authors.forename: N
authors.initials: N
authors.lastname: Robillard
authors.forename: I
authors.initials: I
authors.lastname: Bouyge
authors.forename: S
authors.initials: S
authors.lastname: Arcot
authors.forename: M
authors.initials: M
authors.lastname: Batzer
authors.forename: P
authors.initials: P
authors.lastname: Talmant
authors.forename: J L
authors.initials: JL
authors.lastname: Harousseau
authors.forename: N
authors.initials: N
authors.lastname: Milpied
authors.forename: R
authors.initials: R
authors.lastname: Bataille
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D019938:Cyclin D1 / Q000235:genetics; D015342:DNA Probes; D005260:Female; D015326:Gene Rearrangement, B-Lymphocyte, Heavy Chain / Q000235:genetics; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D016130:Immunophenotyping; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000473:pathology; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D015203:Reproducibility of Results; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D015342:DNA Probes; D007143:Immunoglobulin Heavy Chains; D019938:Cyclin D1