PMID- 11920602
OWN - NLM
STAT- MEDLINE
DCOM- 20020416
LR  - 20190708
IS  - 0020-7136 (Print)
IS  - 0020-7136 (Linking)
VI  - 98
IP  - 3
DP  - 2002 Mar 20
TI  - Interphase FISH assays for the detection of translocations with breakpoints in 
      immunoglobulin light chain loci.
PG  - 470-4
AB  - Many B-cell malignancies bear chromosomal translocations juxtaposing 
      immunoglobulin (IG) genes with oncogenes, resulting in deregulated expression of 
      the latter. Translocations affecting the IG heavy chain (IGH) locus in 
      chromosomal region 14q32 are most prevalent. However, variant translocations 
      involving the IG kappa (IGK) locus in 2p12 or the IG lambda (IGL) locus in 22q11 
      occur recurrently in B-cell neoplasias. No routine methods for the detection of 
      all breakpoints involving IG light chain loci independently of the translocation 
      partner have been described. For this reason, we have designed 2 novel interphase 
      fluorescence in situ hybridization (FISH) assays using differentially labeled 
      probes flanking the IGK and IGL locus, respectively. Based on extensive control 
      studies, the diagnostic thresholds for the detection of breakpoints were set at 
      0.3% for IGK and 1.4% for IGL. Fifteen cases of B-cell malignancies with 
      cytogenetically detectable chromosomal abnormalities in 2p11-14 were investigated 
      with the FISH assay for IGK. Breakpoints affecting the IGK locus were detected in 
      7 cases including all 4 variant Burkitt's translocations t(2;8)(p12;q24) and a 
      variant BCL2-associated translocation t(2;18)(p12;q21). Other translocation 
      partners were chromosome bands 7q21 and 16q24. Ten cases with abnormalities in 
      22q11-12 were investigated with the FISH assay for IGL. Breakpoints in the IGL 
      locus were diagnosed in 7 cases including both variant Burkitt's translocations 
      t(8;22)(q24;q11) and a t(3;22)(q27;q11) involving the BCL6 locus. Other 
      translocation partners were 2p13-14, 4q13 and 16p12. Our results show that these 
      FISH assays provide flexible, simple and reliable tools in the diagnosis and 
      characterization of genetic changes in B-cell malignancies.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Martin-Subero, Jose I
AU  - Martin-Subero JI
AD  - Institute of Human Genetics, University Hospital Kiel, Germany.
FAU - Harder, Lana
AU  - Harder L
FAU - Gesk, Stefan
AU  - Gesk S
FAU - Schlegelberger, Brigitte
AU  - Schlegelberger B
FAU - Grote, Werner
AU  - Grote W
FAU - Martinez-Climent, Jose A
AU  - Martinez-Climent JA
FAU - Dyer, Martin J S
AU  - Dyer MJ
FAU - Novo, Francisco J
AU  - Novo FJ
FAU - Calasanz, Maria J
AU  - Calasanz MJ
FAU - Siebert, Reiner
AU  - Siebert R
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Int J Cancer
JT  - International journal of cancer
JID - 0042124
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 14
MH  - Chromosomes, Human, Pair 16
MH  - Chromosomes, Human, Pair 2
MH  - Chromosomes, Human, Pair 22
MH  - Chromosomes, Human, Pair 4
MH  - Chromosomes, Human, Pair 8
MH  - Female
MH  - Genes, Immunoglobulin/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Lymphoma, B-Cell/*genetics
MH  - Male
MH  - Middle Aged
MH  - *Translocation, Genetic
EDAT- 2002/03/29 10:00
MHDA- 2002/04/17 10:01
CRDT- 2002/03/29 10:00
PHST- 2002/03/29 10:00 [pubmed]
PHST- 2002/04/17 10:01 [medline]
PHST- 2002/03/29 10:00 [entrez]
AID - 10.1002/ijc.10169 [pii]
AID - 10.1002/ijc.10169 [doi]
PST - ppublish
SO  - Int J Cancer. 2002 Mar 20;98(3):470-4. doi: 10.1002/ijc.10169.