Document Detail

Detection of the t(2;13)(q35;q14) and PAX3-FKHR fusion in alveolar rhabdomyosarcoma by fluorescence in situ hybridization.
MedLine Citation:
PMID:  7536457     Owner:  NLM     Status:  MEDLINE    
Cytogenetic studies of the pediatric solid tumor alveolar rhabdomyosarcoma have demonstrated the presence of a consistent chromosomal translocation, t(2;13)(q35;q14). We recently identified PAX3 and FKHR as the genes on chromosomes 2 and 13, respectively, that are juxtaposed by this translocation. As one means of detecting the t(2;13) translocation in clinical specimens, we have developed a fluorescence in situ hybridization (FISH) assay that may be used for both interphase and metaphase cells. Translocation of the 5' region of the FKHR gene to the derivative chromosome 2, and retention of the 3' region of FKHR on the derivative chromosome 13 [(der(13)], were demonstrated in metaphase cells from a rhabdomyosarcoma cell line with a previously identified t(2;13) translocation. A 5' PAX3 cosmid probe was shown to localize to 2q35 in normal cells, and to translocate to the der(13) in the rhabdomyosarcoma cell line. In order to detect the der(13) in interphase nuclei, we labeled the 3'FKHR and the 5'PAX3 cosmid probes with digoxigenin and biotin, respectively, and used these in a two-color FISH assay. The presence of the der(13) was visualized as juxtaposed or overlapping red and green signals in metaphase and interphase tumor cells. The PAX3-FKHR FISH assay was then applied to a series of cytogenetically characterized pediatric sarcoma cell lines. The presence of the der(13) was demonstrated by FISH in all cases containing a cytogenetically detectable t(2;13). The FISH assay was then applied to a series of 20 embryonal and alveolar rhabdomyosarcoma samples. All 10 of the alveolar rhabdomyosarcoma specimens demonstrated a der(13) with the FISH assay.(ABSTRACT TRUNCATED AT 250 WORDS)
J A Biegel; L M Nycum; V Valentine; F G Barr; D N Shapiro
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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:  12     ISSN:  1045-2257     ISO Abbreviation:  Genes Chromosomes Cancer     Publication Date:  1995 Mar 
Date Detail:
Created Date:  1995-05-23     Completed Date:  1995-05-23     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:  186-92     Citation Subset:  IM    
Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, PA 19104, USA.
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MeSH Terms
Chromosome Mapping
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 2*
In Situ Hybridization, Fluorescence
Rhabdomyosarcoma, Alveolar / genetics*
Rhabdomyosarcoma, Embryonal / genetics
Sarcoma, Ewing's / genetics
Translocation, Genetic*
Tumor Cells, Cultured
Grant Support

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