Document Detail

Cytogenetics of multiple myeloma: interpretation of fluorescence in situ hybridization results.
MedLine Citation:
PMID:  12648063     Owner:  NLM     Status:  MEDLINE    
The cytogenetic picture in multiple myeloma (MM) is highly complex, from which non-random numerical and structural chromosomal changes have been identified. Specifically, translocations involving the immunoglobulin heavy chain gene (IGH) at 14q32 and either monosomy or deletions of chromosome 13 have been reported in a significant number of patients from both cytogenetic and interphase fluorescence in situ hybridization (FISH) studies. Importantly, these abnormalities of chromosome 13 have recently been associated with a poor prognosis. In view of the highly complex nature of the karyotypes in MM patients, interphase FISH results may be difficult to interpret. In this study, cytogenetics and/or interphase FISH were carried out on bone marrow samples or purified plasma cells from 37 MM patients. Abnormal karyotypes, characterized by multiplex FISH (M-FISH) were found in 11 patients, all of which were highly complex. Interphase FISH revealed translocations involving the IGH locus in 16 (43%) patients. The IGH/cyclin D1 (CCND1) gene fusion characteristic of the translocation, t(11;14)(q13;q32), was seen in 12 (32%) of these patients and other rearrangements of IGH in four (11%) patients. Fourteen patients had additional copies of chromosome 11. Twenty patients (54%) had 13q14 deletions, 10 of whom also had t(11;14) or another IGH translocation. By comparing cytogenetic and FISH results, this study has revealed that significant chromosomal abnormalities might be hidden within highly complex karyotypes. Therefore, extreme caution is required in the interpretation of interphase FISH results in MM, particularly in relation to certain abnormalities, such as 13q14 deletions, which have an impact on prognosis.
Christine J Harrison; Helen Mazzullo; Kan L Cheung; Gareth Gerrard; G Reza Jalali; Atul Mehta; David G Osier; Kim H Orchard
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  British journal of haematology     Volume:  120     ISSN:  0007-1048     ISO Abbreviation:  Br. J. Haematol.     Publication Date:  2003 Mar 
Date Detail:
Created Date:  2003-03-21     Completed Date:  2003-08-07     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372544     Medline TA:  Br J Haematol     Country:  England    
Other Details:
Languages:  eng     Pagination:  944-52     Citation Subset:  IM    
Department of Haematology, Royal Free Medical School, London. harrison@soton.acuk
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MeSH Terms
Aged, 80 and over
Case-Control Studies
Chromosome Aberrations*
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 14
Cytogenetic Analysis
Gene Deletion
Gene Rearrangement
Immunoglobulin Heavy Chains / genetics
In Situ Hybridization, Fluorescence
Middle Aged
Multiple Myeloma / genetics*
Translocation, Genetic
Reg. No./Substance:
0/Immunoglobulin Heavy Chains

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