PMID- 17251335
OWN - NLM
STAT- MEDLINE
DCOM- 20070315
LR  - 20181113
IS  - 1525-1578 (Print)
IS  - 1525-1578 (Linking)
VI  - 9
IP  - 1
DP  - 2007 Feb
TI  - Telomeric IGH losses detectable by fluorescence in situ hybridization in chronic 
      lymphocytic leukemia reflect somatic VH recombination events.
PG  - 47-54
AB  - Routine interphase fluorescence in situ hybridization (FISH) analysis of chronic 
      lymphocytic leukemia (CLL) with LSI IGH/CCND1 assay, applied to differentiate CLL 
      from leukemic mantle cell lymphoma, identified a subset of cases (42/174) with 
      translocation-like IGH signal pattern. To unravel the underlying 14q32/IGH 
      aberrations, 14 of these cases were subjected to cytogenetic, detailed FISH, and 
      V(H) mutation analyses. FISH identified cryptic losses of various portions of the 
      IGHV region in all 14 cases. Fine mapping of these V(H) deletions revealed a 
      strict correlation between their distal border and localization of the used VH 
      gene, suggesting that they are not oncogenic but reflect physiological events 
      accompanying somatic V-D-J assembly. This hypothesis was further supported by 
      FISH analysis of 20 CLL and hairy cell leukemia cases with the known V(H) usage 
      showing a constant loss of sequences proximal to the used gene, identification of 
      V(H) deletions in normal B cells, and their exclusive demonstration in B cell 
      malignancies, but not of T cell and myeloid linage. Given that these cryptic 
      physiological VH losses in B cells may seriously complicate analysis of B cell 
      leukemia/lymphoma and lead to false conclusions, FISH users should take them into 
      consideration when interpreting IGH aberrations in these malignancies.
FAU - Wlodarska, Iwona
AU  - Wlodarska I
AD  - Center for Human Genetics, Catholoc University Leuven, Leuven, Belgium. 
      iwona.wlodarska@uz.kuleuven.ac.be
FAU - Matthews, Christine
AU  - Matthews C
FAU - Veyt, Ellen
AU  - Veyt E
FAU - Pospisilova, Helena
AU  - Pospisilova H
FAU - Catherwood, Mark A
AU  - Catherwood MA
FAU - Poulsen, Tim S
AU  - Poulsen TS
FAU - Vanhentenrijk, Vera
AU  - Vanhentenrijk V
FAU - Ibbotson, Rachel
AU  - Ibbotson R
FAU - Vandenberghe, Peter
AU  - Vandenberghe P
FAU - Morris, T C M Curly
AU  - Morris TC
FAU - Alexander, H Denis
AU  - Alexander HD
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Mol Diagn
JT  - The Journal of molecular diagnostics : JMD
JID - 100893612
RN  - 0 (Immunoglobulin Heavy Chains)
SB  - IM
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 14/*genetics
MH  - DNA Mutational Analysis
MH  - Decision Trees
MH  - Diagnosis, Differential
MH  - Humans
MH  - Immunoglobulin Heavy Chains/*genetics
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Leukemia, Lymphocytic, Chronic, B-Cell/*genetics
MH  - Molecular Diagnostic Techniques/*methods
MH  - Northern Ireland
MH  - Recombination, Genetic/*genetics
MH  - Telomere/*genetics
MH  - Translocation, Genetic/*genetics
PMC - PMC1867431
EDAT- 2007/01/26 09:00
MHDA- 2007/03/16 09:00
PMCR- 2008/02/01
CRDT- 2007/01/26 09:00
PHST- 2007/01/26 09:00 [pubmed]
PHST- 2007/03/16 09:00 [medline]
PHST- 2007/01/26 09:00 [entrez]
PHST- 2008/02/01 00:00 [pmc-release]
AID - S1525-1578(10)60360-1 [pii]
AID - 6445 [pii]
AID - 10.2353/jmoldx.2007.060088 [doi]
PST - ppublish
SO  - J Mol Diagn. 2007 Feb;9(1):47-54. doi: 10.2353/jmoldx.2007.060088.