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Malignant melanoma of the soft parts (clear-cell sarcoma): Confirmation of EWS and ATF-1 gene fusion caused by a t(12;22) translocation
Author(s): Speleman F, Delattre O, Peter M, Hauben E, VanRoy N, VanMarck E
Source: MODERN PATHOLOGY    Volume: 10    Issue: 5    Pages: 496-499    Published: MAY 1997  
Times Cited: 33     References: 21     
Abstract: We report on the cytogenetic and molecular analysis of a malignant melanoma of the sob parts (MMSP). A t(12;22)(q13;q12) was found as the only structural chromosomal change, and this provides additional support for the important role of this translocation in MMSP development. Molecular analysis revealed in frame fusion between exon 10 of the Ewing's sarcoma oncogene (EWS) and codon 110 of ATF-1. In previously analyzed MMSPs, junctions were observed between EWS exon 8 and ATE-I codon 65. The present data thus indicate that, as in Ewing's sarcoma, different fusion proteins can occur in MMSP. The presence of the EWS/ATF-1 fusion gene in the tumor cells was demonstrated by dual color fluorescence in situ hybridization on interphase nuclei. Our data provide additional support for the specific association of the t(12;22) and the resulting EWS/ATF-1 gene fusion in MMSP. This particular genetic aberration, therefore, serves as a strong diagnostic marker for MMSP. We conclude that detection of the t(12;22) by cytogenetic or molecular analysis is useful in establishing or confirming the diagnosis of MMSP.
Document Type: Article
Language: English
Reprint Address: Speleman, F (reprint author), STATE UNIV GHENT HOSP, DEPT MED GENET, PINTELAAN 185, B-9000 GHENT, BELGIUM
Addresses:
1. UNIV ANTWERP HOSP, DEPT PATHOL, ANTWERP, BELGIUM
2. INST CURIE, LAB TUMOUR GENET, PARIS, FRANCE
Publisher: WILLIAMS & WILKINS, 351 WEST CAMDEN ST, BALTIMORE, MD 21201-2436
Subject Category: Pathology
IDS Number: WZ853
ISSN: 0893-3952
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