PMID- 22553924 OWN - NLM STAT- MEDLINE DCOM- 20130415 LR - 20190116 IS - 1029-2403 (Electronic) IS - 1026-8022 (Linking) VI - 53 IP - 12 DP - 2012 Dec TI - Recurrent breakpoints in 14q32.13/TCL1A region in mature B-cell neoplasms with villous lymphocytes. PG - 2449-55 LID - 10.3109/10428194.2012.690098 [doi] AB - 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. FAU - Urbankova, Helena AU - Urbankova H AD - Center for Human Genetics, KU Leuven, Leuven, Belgium. FAU - Baens, Mathijs AU - Baens M FAU - Michaux, Lucienne AU - Michaux L FAU - Tousseyn, Thomas AU - Tousseyn T FAU - Rack, Katrina AU - Rack K FAU - Katrincsakova, Beata AU - Katrincsakova B FAU - Ferreiro, Julio Finalet AU - Ferreiro JF FAU - van Loo, Peter AU - van Loo P FAU - de Kelver, Wim AU - de Kelver W FAU - Dierickx, Daan AU - Dierickx D FAU - Demuynck, Hilde AU - Demuynck H FAU - Delannoy, Andre AU - Delannoy A FAU - Verschuere, Johan AU - Verschuere J FAU - Jarosova, Marie AU - Jarosova M FAU - de Wolf-Peeters, Chris AU - de Wolf-Peeters C FAU - Vandenberghe, Peter AU - Vandenberghe P FAU - Wlodarska, Iwona AU - Wlodarska I LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Leuk Lymphoma JT - Leukemia & lymphoma JID - 9007422 RN - 0 (Proto-Oncogene Proteins) RN - 0 (TCL1A protein, human) SB - IM MH - Aged MH - B-Lymphocytes/*metabolism/pathology MH - *Chromosome Aberrations MH - Chromosome Breakpoints MH - Chromosome Deletion MH - Chromosomes, Human, Pair 14/*genetics MH - Chromosomes, Human, Pair 4/genetics MH - Fatal Outcome MH - Female MH - Gene Expression Regulation, Neoplastic MH - Humans MH - In Situ Hybridization, Fluorescence MH - Leukemia, Lymphocytic, Chronic, B-Cell/genetics MH - Lymphoma, B-Cell/genetics MH - Male MH - Middle Aged MH - Proto-Oncogene Proteins/*genetics MH - Reverse Transcriptase Polymerase Chain Reaction MH - Translocation, Genetic EDAT- 2012/05/05 06:00 MHDA- 2013/04/16 06:00 CRDT- 2012/05/05 06:00 PHST- 2012/05/05 06:00 [entrez] PHST- 2012/05/05 06:00 [pubmed] PHST- 2013/04/16 06:00 [medline] AID - 10.3109/10428194.2012.690098 [doi] PST - ppublish SO - Leuk Lymphoma. 2012 Dec;53(12):2449-55. doi: 10.3109/10428194.2012.690098.