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New type of chimeric fusion product between the EWS and ATF1 genes in clear cell sarcoma (malignant melanoma of soft parts)
Author(s) -
Pellín Antonio,
Monteagudo Carlos,
LópezGinés Concha,
Carda Carmen,
Boix Javier,
LlombartBosch Antonio
Publication year - 1998
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/(sici)1098-2264(199812)23:4<358::aid-gcc11>3.0.co;2-3
Subject(s) - melanoma , fusion gene , cancer research , fusion , sarcoma , product (mathematics) , gene , medicine , biology , pathology , genetics , mathematics , philosophy , linguistics , geometry
We report a new case of clear cell sarcoma (CCS) harboring the t(12;22)(q13;q12). Reverse transcription‐polymerase chain reaction (RT‐PCR) analysis revealed the presence of a chimeric transcript between the EWS and ATF1 genes, both in primary and metastatic tissue. Sequencing studies disclosed an in‐frame fusion between EWS gene codon 265 and ATF1 gene codon 110. This breakpoint has not been reported previously and indicates an important in vivo loss of EWS and ATF1 gene domains, which could be associated with the unusually aggressive behavior of this tumor. Genes Chromosomes Cancer 23:358–360, 1998. © 1998 Wiley‐Liss, Inc.