title: New type of chimeric fusion product between the EWS and ATFI genes in clear cell sarcoma (malignant melanoma of soft parts).
abstract: 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 ATFI genes, both in primary and metastatic tissue. Sequencing studies disclosed an in-frame fusion between EWS gene codon 265 and ATFI gene codon 110. This breakpoint has not been reported previously and indicates an important in vivo loss of EWS and ATFI gene domains, which could be associated with the unusually aggressive behavior of this tumor.
authors.affiliation: Department of Pathology, Medical School, University of Valencia, Spain.
authors.forename: A
authors.initials: A
authors.lastname: Pellín
authors.forename: C
authors.initials: C
authors.lastname: Monteagudo
authors.forename: C
authors.initials: C
authors.lastname: López-Ginés
authors.forename: C
authors.initials: C
authors.lastname: Carda
authors.forename: J
authors.initials: J
authors.lastname: Boix
authors.forename: A
authors.initials: A
authors.lastname: Llombart-Bosch
mesh_terms: D000328:Adult; D005528:Foot / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009379:Neoplasms, Muscle Tissue / Q000235:genetics* / Q000473:pathology; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012334:RNA, Neoplasm / Q000032:analysis; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018227:Sarcoma, Clear Cell / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C111598:EWS-ATF1 fusion protein, human; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm; D011993:Recombinant Fusion Proteins; D014157:Transcription Factors