Document Detail

Multicolor spectral karyotyping identifies novel translocations in childhood acute lymphoblastic leukemia.
MedLine Citation:
PMID:  11237073     Owner:  NLM     Status:  MEDLINE    
We used a recently described molecular cytogenetic method, spectral karyotyping (SKY), to analyze metaphase chromosomes from 30 pediatric patients with acute lymphoblastic leukemia (ALL). This group included 20 patients whose leukemic blast cells lacked chromosomal abnormalities detected by conventional cytogenetics and 10 patients whose blast cells had multiple chromosomal abnormalities that could not be completely identified by G-banding analysis. In two of the 20 patients (10%) with apparently normal karyotypes, SKY identified three cryptic translocations: a t(7;8)(q34-35;q24.1) in one patient and a t(13;17)(q22;q21) and a der(19)t(17;19)(q22;p13) in another. Fluorescence in situ hybridization using subtelomeric probes proved the latter translocation to be a t(17;19). SKY analysis was also successful in defining the nature of the chromosomal abnormalities in four of the 10 patients with marker and derivative chromosomes. The identified abnormalities in the latter group included three novel translocations: a der(X)t(X;5)(p11.4;q31), a der(21)t(X;21)(p11.4;p11.2) and a t(X;9)(p11.4;p13). The presence of the t(X;9) was suggested by conventional cytogenetics. The application of fluorescence in situ hybridization using chromosome-specific painting probes and locus-specific probes complemented the SKY analysis by confirming the nature of the chromosome rearrangements defined by SKY and by identifying the amplification of the AML1/CBFA2 gene in one patient with a duplicated 21q. Our study demonstrates the utility of SKY in identifying novel translocations and in refining the identity of chromosomal abnormalities in leukemias.
S Mathew; P H Rao; J Dalton; J R Downing; S C Raimondi
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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:  Leukemia     Volume:  15     ISSN:  0887-6924     ISO Abbreviation:  Leukemia     Publication Date:  2001 Mar 
Date Detail:
Created Date:  2001-03-09     Completed Date:  2001-03-29     Revised Date:  2013-03-04    
Medline Journal Info:
Nlm Unique ID:  8704895     Medline TA:  Leukemia     Country:  England    
Other Details:
Languages:  eng     Pagination:  468-72     Citation Subset:  IM    
Department of Pathology, St Jude Children's Research Hospital, Memphis, TN 38105-2794, USA.
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MeSH Terms
Child, Preschool
In Situ Hybridization, Fluorescence
Karyotyping / methods*
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Translocation, Genetic*
Grant Support

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