Document Detail

t(11;18)(q21;q21) of mucosa-associated lymphoid tissue lymphoma results from illegitimate non-homologous end joining following double strand breaks.
MedLine Citation:
PMID:  15086412     Owner:  NLM     Status:  MEDLINE    
t(11;18)(q21;q21) is the most frequent chromosomal aberration specifically associated with mucosa-associated lymphoid tissue (MALT) lymphoma. The translocation fuses the API2 gene to the MALT1 gene and generates a functional API2-MALT1 transcript. The breakpoint of the fusion gene is well characterized at the transcript level but poorly understood at the genomic level and the mechanism underlying the translocation is unknown. We identified the genomic breakpoint in 19 t(11;18)-positive MALT lymphoma cases by polymerase chain reaction and sequencing and analysed the junctional sequences. The breakpoints were scattered in intron 7 and exon 8 of the API2 gene, and introns 4, 6, 7 and 8 of the MALT1 gene. Comparative sequence analysis between the API2-MALT1 fusion on der(11) and the MALT1-API2 fusion on der(18) showed extensive alterations including deletions, duplications and non-template-based insertions at the fusion junctions in all cases examined. An extensive sequence search failed to reveal any known sequence motifs that might be associated with chromosomal recombination or any novel consensus sequences at or near the breakpoints on both der(11) and der(18) except in one case, in which Alu repeats spanned the breakpoint of the MALT1-API2 fusion. Our results suggest that t(11;18) may result from illegitimate non-homologous end joining following double strand breaks.
Hongxiang Liu; Rifat A Hamoudi; Hongtao Ye; Agnes Ruskone-Fourmestraux; Ahmet Dogan; Peter G Isaacson; Ming-Qing Du
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  125     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2004 May 
Date Detail:
Created Date:  2004-04-16     Completed Date:  2004-06-04     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  318-29     Citation Subset:  IM    
Department of Pathology, University of Cambridge, Cambridge, UK.
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MeSH Terms
Base Sequence
Chromosomes, Human, Pair 11 / genetics*
Chromosomes, Human, Pair 18 / genetics*
DNA, Neoplasm / genetics
Lung Neoplasms / genetics
Lymphoma, B-Cell, Marginal Zone / genetics*
Molecular Sequence Data
Neoplasm Proteins / genetics
Oncogene Proteins, Fusion / genetics
Polymerase Chain Reaction / methods
Stomach Neoplasms / genetics
Translocation, Genetic*
Reg. No./Substance:
0/API2-MALT1 fusion protein, human; 0/DNA, Neoplasm; 0/Neoplasm Proteins; 0/Oncogene Proteins, Fusion

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