Use of bicolor FISH and DIRVISH methods to analyse the breakpoint of translocations in ES/PNE
Journal Article
·
· American Journal of Human Genetics
OSTI ID:133487
- Institut Curie, Paris (France); and others
The t(11;22)(q24;q12) translocation is found in about 85% of the Ewing tumors. In few instances, complex translocations, involving chromosomes 11, 22 and a third chromosome or apparently variant translocations involving another chromosome than chromosome 11 have also been reported. These rearrangements generate an active fusion gene between the EWS gene and the human FLI-1 gene or with another member of the ETS family gene localized in band 21q22, the ERG gene. We report here (1) the use of DIRect Visualisation In Situ Hybridization (DIRVISH) with cosmid probes corresponding to loci flanking or overlapping both 11 and 22 breakpoints for the precise analysis of the classic t(11;22) translocation and (2) the molecular cytogenetic characterization with a set of probes hybridized on interphase nuclei or metaphases of particular ES tumors with a complex t(2;11;22) translocation, an apparently variant t(12;22) translocation, a t(21;22) translocation and two ES tumors without specific rearrangements but with an EWS/ERG fusion gene demonstrated by the molecular analysis. These molecular cytogenetic methods allowed us (1) to precisely localize the genomic breakpoints and the fusion gene, (2) to determine the translocation events generating the fusion genes, and (3) to suggest that variant translocations could be masked complex translocations or involve the ERG gene instead of the human FLI-1 gene.
- OSTI ID:
- 133487
- Report Number(s):
- CONF-941009--
- Journal Information:
- American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
- Country of Publication:
- United States
- Language:
- English
Similar Records
Molecular localization of the t(11; 22)(q24; q12) translocation of Ewing sarcoma by chromosomal in situ suppression hybridization
Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation
The chimeric EWS-WT1 gene product in the desmoplastic small round cell tumor: Molecular detection and alternative transcripts
Journal Article
·
Thu Jan 31 23:00:00 EST 1991
· Proceedings of the National Academy of Sciences of the United States of America; (United States)
·
OSTI ID:5016241
Genomic structure of the EWS gene and its relationship to EWSR1, a site of tumor-associated chromosome translocation
Journal Article
·
Tue Nov 30 23:00:00 EST 1993
· Genomics; (United States)
·
OSTI ID:7159765
The chimeric EWS-WT1 gene product in the desmoplastic small round cell tumor: Molecular detection and alternative transcripts
Journal Article
·
Thu Sep 01 00:00:00 EDT 1994
· American Journal of Human Genetics
·
OSTI ID:133502