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.
Publication types
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Adult
-
Foot / pathology
-
Humans
-
Karyotyping
-
Male
-
Muscle, Skeletal / pathology
-
Neoplasms, Muscle Tissue / genetics*
-
Neoplasms, Muscle Tissue / pathology
-
Oncogene Proteins, Fusion / genetics*
-
RNA, Neoplasm / analysis
-
Recombinant Fusion Proteins / genetics*
-
Reverse Transcriptase Polymerase Chain Reaction
-
Sarcoma, Clear Cell / genetics*
-
Sarcoma, Clear Cell / pathology
-
Transcription Factors / genetics*
Substances
-
EWS-ATF1 fusion protein, human
-
Oncogene Proteins, Fusion
-
RNA, Neoplasm
-
Recombinant Fusion Proteins
-
Transcription Factors