Document Detail


A subtle deletion of 12p by routine cytogenetics is found to be a translocation to 21q by fluorescence in situ hybridization: t(12;21)(p13;q22).
MedLine Citation:
PMID:  8697420     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A 4-year-old boy with acute lymphoblastic leukemia (ALL) whose leukemic cells contained at diagnosis a del(6q) had a different clone at relapse, characterized by an abnormal short arm of chromosome 12 (12p). Fluorescence in situ hybridization (FISH) analysis using a cosmid probe from the 12p12-13 region indicated a translocation of the 12p to another unknown chromosome of "G-group" size. Further analysis by dual chromosome painting confirmed the presence of a translocation, identified as t(12;21)(p13;q22). Previously reported cases showed this translocation at diagnosis of ALL, whereas this is the first case showing the specific t(12;21)(p13;q22) at relapse. This case study illustrates the value of FISH in resolving subtle recurrent chromosomal rearrangements that escape detection by routine cytogenetic analysis. Subsequent molecular evaluation of the patient's leukemic cells with the t(12;21) demonstrated a TEL/AML1 fusion protein.
Authors:
L V Filatov; M Saito; F G Behm; G K Rivera; S C Raimondi
Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Cancer genetics and cytogenetics     Volume:  89     ISSN:  0165-4608     ISO Abbreviation:  Cancer Genet. Cytogenet.     Publication Date:  1996 Jul 
Date Detail:
Created Date:  1996-08-30     Completed Date:  1996-08-30     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:  136-40     Citation Subset:  IM    
Affiliation:
Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA.
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MeSH Terms
Descriptor/Qualifier:
Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 12*
Chromosomes, Human, Pair 21*
DNA Probes
Gene Deletion*
Humans
In Situ Hybridization, Fluorescence*
Karyotyping
Male
Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
Translocation, Genetic*
Grant Support
ID/Acronym/Agency:
CA20180/CA/NCI NIH HHS; CA21765/CA/NCI NIH HHS
Chemical
Reg. No./Substance:
0/DNA Probes

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


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