PMID- 12682631 OWN - NLM STAT- MEDLINE DCOM- 20030505 LR - 20130304 IS - 0887-6924 (Print) IS - 0887-6924 (Linking) VI - 17 IP - 4 DP - 2003 Apr TI - Molecular cytogenetic detection of chromosomal breakpoints in T-cell receptor gene loci. PG - 738-45 AB - Chromosomal aberrations with breakpoints in T-cell receptor (TCR) gene loci are recurrent in several T-cell malignancies. Although the importance of interphase cytogenetics has been extensively shown in B-cell lymphomas, hardly any molecular cytogenetic tools are available for recurrent changes in T-cell disorders. Thus, we have established fluorescence in situ hybridization (FISH)-based break-apart assays for the TCRA/D (14q11), TCRB (7q34) and TCRG (7p14) genes and the TCL cluster (14q32). The assays were validated in normal controls as well as in 43 T-cell malignancies with cytogenetically proven 14q11, 7q34-35 or 7p13-21 aberrations. Breakpoints in TCRA/D, TCRB and TCRG could be diagnosed by these assays in 32/33 T-cell neoplasms with chromosome 14q11, 3/6 with 7q34-35 and 1/7 with 7p13-21 alterations, respectively. Application of the new FISH assays to a series of 24 angioimmunoblastic and 12 cutaneous T-cell lymphomas confirmed the cytogenetic evidence of lack of breakpoints in the TCRA/D or TCRB locus. Simultaneous detection of TCRA/D or TCRB breaks was achieved in a multicolor approach, which was further combined with detection of the T-cell-specific CD3 antigen in a multicolor FICTION (Fluorescence Immunophenotyping and Interphase Cytogenetics as a Tool for the Investigation of Neoplasm) assay. These new FISH and FICTION assays provide sensitive, rapid and accurate tools for the diagnosis and biological characterization of T-cell malignancies. FAU - Gesk, S AU - Gesk S AD - Institute of Human Genetics, University Hospital Schleswig-Holstein, Kiel, Germany. FAU - Martin-Subero, J I AU - Martin-Subero JI FAU - Harder, L AU - Harder L FAU - Luhmann, B AU - Luhmann B FAU - Schlegelberger, B AU - Schlegelberger B FAU - Calasanz, M J AU - Calasanz MJ FAU - Grote, W AU - Grote W FAU - Siebert, R AU - Siebert R LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Leukemia JT - Leukemia JID - 8704895 RN - 0 (Receptors, Antigen, T-Cell, alpha-beta) RN - 0 (Receptors, Antigen, T-Cell, gamma-delta) SB - IM MH - Adolescent MH - Adult MH - Aged MH - Child, Preschool MH - *Chromosome Breakage MH - Chromosome Inversion MH - Chromosome Painting/methods MH - Chromosomes, Human, Pair 14/*genetics MH - Chromosomes, Human, Pair 7/*genetics MH - False Positive Reactions MH - Female MH - Humans MH - Karyotyping MH - Leukemia, T-Cell/*genetics MH - Lymphoma, T-Cell/*genetics MH - Male MH - Middle Aged MH - Mycosis Fungoides/genetics MH - Receptors, Antigen, T-Cell, alpha-beta/*genetics MH - Receptors, Antigen, T-Cell, gamma-delta/*genetics MH - Sequence Deletion MH - Sezary Syndrome/genetics MH - Translocation, Genetic EDAT- 2003/04/12 05:00 MHDA- 2003/05/06 05:00 CRDT- 2003/04/12 05:00 PHST- 2003/04/12 05:00 [pubmed] PHST- 2003/05/06 05:00 [medline] PHST- 2003/04/12 05:00 [entrez] AID - 2402884 [pii] AID - 10.1038/sj.leu.2402884 [doi] PST - ppublish SO - Leukemia. 2003 Apr;17(4):738-45. doi: 10.1038/sj.leu.2402884.