title: Recurrent breakpoints in 14q32.13/TCL1A region in mature B-cell neoplasms with villous lymphocytes.
abstract: The genetic background of mature B-cell neoplasms with villous lymphocytes is poorly understood. We identified a novel breakpoint region at 14q32.13 that was rearranged together with IGH/14q32.33 in four cases of BRAF/V600E-negative leukemia/lymphoma with villous lymphocytes carrying either t(14;14)(q32.13;q32.33) (three patients) or del(14)(q32.13q32.33) (one patient). The 14q32.13 breakpoints were mapped by fluorescence in situ hybridization (FISH) in the region harboring the TCL1A/TCL1B/TCL6 genes, known to be affected by TCRA/D-mediated t(14;14)(q11;q32)/inv(14)(q11q32) occurring in T-cell leukemia/lymphoma. To identify the target of t(14;14)(q32.13; q32.33) and del(14)(q32.13q32.33), quantitative real-time polymerase chain reaction (qRT-PCR) analysis of 25 candidate genes located centromerically and telomerically to the 14q32.13 breakpoint was performed. Any of the analyzed genes was commonly overexpressed in the presented cases. Of note, up-regulated transcription of TCL1A was observed in two cases. In summary, we provide evidence that IGH-mediated chromosomal aberrations affecting the 14q32.13/TCL1A-TCL6 region are recurrent in mature B-cell neoplasms with villous lymphocytes. Despite extensive qRT-PCR studies, molecular consequences of these novel aberrations remain elusive.
authors.affiliation: Center for Human Genetics, KU Leuven, Leuven, Belgium.
authors.forename: Helena
authors.initials: H
authors.lastname: Urbankova
authors.forename: Mathijs
authors.initials: M
authors.lastname: Baens
authors.forename: Lucienne
authors.initials: L
authors.lastname: Michaux
authors.forename: Thomas
authors.initials: T
authors.lastname: Tousseyn
authors.forename: Katrina
authors.initials: K
authors.lastname: Rack
authors.forename: Beata
authors.initials: B
authors.lastname: Katrincsakova
authors.forename: Julio Finalet
authors.initials: JF
authors.lastname: Ferreiro
authors.forename: Peter
authors.initials: P
authors.lastname: van Loo
authors.forename: Wim
authors.initials: W
authors.lastname: de Kelver
authors.forename: Daan
authors.initials: D
authors.lastname: Dierickx
authors.forename: Hilde
authors.initials: H
authors.lastname: Demuynck
authors.forename: André
authors.initials: A
authors.lastname: Delannoy
authors.forename: Johan
authors.initials: J
authors.lastname: Verschuere
authors.forename: Marie
authors.initials: M
authors.lastname: Jarošová
authors.forename: Chris
authors.initials: C
authors.lastname: de Wolf-Peeters
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
mesh_terms: D000368:Aged; D001402:B-Lymphocytes / Q000378:metabolism* / Q000473:pathology; D002869:Chromosome Aberrations; D056905:Chromosome Breakpoints; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics; D016393:Lymphoma, B-Cell / Q000235:genetics; D008297:Male; D008875:Middle Aged; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D011518:Proto-Oncogene Proteins; C090851:TCL1A protein, human