Fusion of the RBP56 and CHN genes in extraskeletal myxoid chondrosarcomas with translocation t(9;17)(q22;q11).
Although most extraskeletal myxoid chondrosarcomas (EMC) are cytogenetically characterized by the translocation t(9;22)(q22;q12), another subset has recently been identified carrying a t(9;17)(q22;q11). Whereas the t(9;22) is known to result in fusion of the CHN (TEC) gene from 9q22 with the EWS gene from 22q12, creating a chimeric EWS/CHN, the genes involved in the t(9;17) of EMC are unknown. We examined two EMC with t(9;17)(q22;q11) and found that the CHN gene was recombined with the RBP56 gene from 17q11 to generate a chimeric RBP56/CHN. RBP56 has not previously been shown to be involved in tumorigenesis but it encodes a putative RNA-binding protein similar to the EWS and FUS (TLS) proteins known to play a pathogenetic role in several sarcomas. The presence of the RBP56/CHN chimeric gene in EMC with t(9;17)(q22;q11) shows that the N-terminal parts of EWS and RBP56 have similar oncogenic potential making them pathogenetically equivalent in oncoproteins arising from fusions with certain transcription factors.
Panagopoulos
I
I
Department of Clinical Genetics, Lund University Hospital, S-221 85 Lund, Sweden.
Mencinger
M
M
Dietrich
C U
CU
Bjerkehagen
B
B
Saeter
G
G
Mertens
F
F
Mandahl
N
N
Heim
S
S
D000595:Amino Acid Sequence; D019677:Artificial Gene Fusion; D001483:Base Sequence; D002813:Chondrosarcoma / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17; D002899:Chromosomes, Human, Pair 9; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins / Q000235:genetics*; D011987:Receptors, Steroid; D011988:Receptors, Thyroid Hormone; D035381:TATA-Binding Protein Associated Factors; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
D004268:DNA-Binding Proteins; C490412:NR4A3 protein, human; D009419:Nerve Tissue Proteins; D009687:Nuclear Proteins; D011987:Receptors, Steroid; D011988:Receptors, Thyroid Hormone; C102041:TAF15 protein, human; D035381:TATA-Binding Protein Associated Factors; D014157:Transcription Factors