Document Detail

A submicroscopic interstitial deletion of chromosome 14 frequently occurs adjacent to the t(14;18) translocation breakpoint in human follicular lymphoma.
MedLine Citation:
PMID:  7682098     Owner:  NLM     Status:  MEDLINE    
The t(14;18) chromosomal translocation characteristic of follicular lymphoma (FL) juxtaposes the immunoglobulin heavy chain locus (IGH) and the BCL2 proto-oncogene. The translocation can be readily detected as a non-germline Notl fragment resolved by pulsed-field gel electrophoresis. A benefit of this approach is that it enables examination of the structure of a large region (+/- 300 kb) surrounding the chromosomal breakpoint. In 40/46 cases the observed translocated Notl fragment was smaller than the 680-690 kb expected from published restriction maps of the involved loci suggesting a deletion in the region of the breakpoint. Analysis of the der(14) allele by molecular hybridization demonstrated that in 35/46 cases the mu constant region (C mu) was deleted. Further molecular dissection of the IGH locus demonstrated that this resulted from an interstitial deletion of the der(14) chromosome within the region defined by the mu switch region (S mu) on the 5' side and the epsilon constant region (C epsilon) on the 3' end. Thus, the deletion resembled a class switch (CS) recombination event. Surprisingly, the CS deletion was as common in FL which was sIGM positive (24/33, 72.7%) as in cases where the productive allele had already undergone CS deletion (11/13, 84.6%) suggesting that the observed non-physiologic CS deletion resulted from a cis effect of the chromosomal translocation. Similar interstitial deletions of the non-productive IGH allele were not seen in B cell lymphocytic lymphomas which do not have the t(14;18) translocation. Mapping of the 3' extent of the deletion by an isotype PCR assay demonstrated frequent involvement (11/12 cases) of the gamma 1 constant region (C gamma 1). Analysis of cases in which the deletion was not evident by Southern blotting but detectable by PCR suggested that the CS deletion had occurred in a small subpopulation of FL cells subsequent to the t(14;18) translocation. The biological role of frequent interstitial deletions of the der(14) chromosome in t(14;18)-carrying lymphomas remains to be elucidated.
A D Zelenetz; M L Cleary; R Levy
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Genes, chromosomes & cancer     Volume:  6     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  1993 Mar 
Date Detail:
Created Date:  1993-05-07     Completed Date:  1993-05-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9007329     Medline TA:  Genes Chromosomes Cancer     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  140-50     Citation Subset:  IM    
Division of Hematologic Oncology/Lymphoma Service, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.
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MeSH Terms
Base Sequence
Chromosomes, Human, Pair 14 / ultrastructure*
Chromosomes, Human, Pair 18 / ultrastructure*
Electrophoresis, Gel, Pulsed-Field
Genes, Immunoglobulin*
Immunoglobulin Constant Regions*
Immunoglobulin mu-Chains / genetics*
Lymphoma, Follicular / genetics*
Molecular Sequence Data
Neoplasm Proteins / genetics
Polymerase Chain Reaction
Proto-Oncogene Proteins / genetics*
Proto-Oncogene Proteins c-bcl-2
Recombinant Fusion Proteins / genetics
Sequence Deletion*
Translocation, Genetic*
Grant Support
Reg. No./Substance:
0/Immunoglobulin Constant Regions; 0/Immunoglobulin mu-Chains; 0/Neoplasm Proteins; 0/Proto-Oncogene Proteins; 0/Proto-Oncogene Proteins c-bcl-2; 0/Recombinant Fusion Proteins
Comment In:
Genes Chromosomes Cancer. 1993 Dec;8(4):270-2   [PMID:  7512371 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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