Document Detail

Interphase fluorescence in situ hybridization studies for the detection of 9q34 deletions in chronic myelogenous leukemia: a practical approach to clinical diagnosis.
MedLine Citation:
PMID:  15474149     Owner:  NLM     Status:  MEDLINE    
Chronic myelogenous leukemia (CML) is characterized by the Philadelphia chromosome (Ph) in more than 90% of cases. Recent studies using fluorescence in situ hybridization (FISH) have shown that in a subset of patients with CML, deletions of 9q34 involving the argininosuccinate synthetase region occur at the time of the Philadelphia translocation and are associated with a poor prognosis. We performed interphase FISH studies in 152 cases of CML using a dual-color, dual-fusion probe system with a third probe directed at 9q34. Cytogenetic studies showed a simple (typical) Ph in 124/152 (82%), a cryptic Ph in 11/152 (7%), and a variant Ph chromosome with a complex translocation in 17/152 (11%) of cases. Interphase FISH studies showed single BCR/ABL fusion patterns in 48/152 (32%) of cases. Deletions of 9q34 were observed in 14% of all the cases and were present in 46% of cases with single BCR/ABL fusion pattern. All the 9q34 deletions occurred in cases with single BCR/ABL fusion signal. However, a single-fusion pattern is not specific for 9q34 deletions, and cases should be routinely screened for the presence of this prognostically significant abnormality by using a third probe directed specifically at 9q34.
Patricia Aoun; Michele Wiggins; Diane Pickering; James Foran; Husain Rasheed; Steve Z Pavletic; Warren Sanger
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  154     ISSN:  0165-4608     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  2004 Oct 
Date Detail:
Created Date:  2004-10-11     Completed Date:  2004-11-24     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  7909240     Medline TA:  Cancer Genet Cytogenet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  138-43     Citation Subset:  IM    
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha 68198, USA.
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MeSH Terms
Chromosome Banding
Chromosome Deletion*
Chromosomes, Human, Pair 9*
DNA Probes
Fusion Proteins, bcr-abl
In Situ Hybridization, Fluorescence / methods*
Leukemia, Myelogenous, Chronic, BCR-ABL Positive / diagnosis*,  genetics*
Philadelphia Chromosome
Reg. No./Substance:
0/DNA Probes; 0/Fusion Proteins, bcr-abl

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