Panagopoulos I, Höglund M, Mertens F, Mandahl N, Mitelman F, Aman P
Department of Clinical Genetics, Lund University Hospital, Sweden.
Oncogene. 1996 Feb 1;12(3):489-94.
The translocation t(12;16)(q13;p11), which cytogenetically characterizes myxoid liposarcomas (MLS), results in a fusion of the CHOP gene in 12q13 and the FUS gene in 16p11, creating a chimeric FUS/CHOP gene. We have identified two cases of MLS with translocations giving rise to recombination between 12q13 and 22q12. The result was a fusion of the N-terminal part of the EWS gene in 22q12, involved in a number of mesenchymal tumor types, with the CHOP gene and the creation of an EWS/CHOP chimeric gene. The presence of the EWS/CHOP chimeric gene in MLS shows that (i) the N-terminal part of FUS may be replaced by the N-terminal part of EWS in a CHOP fusion oncoprotein (ii) the two N-terminal parts, when fused to certain transcription factors, have a common or very similar oncogenic potential and (iii) the tumorigenic process in MLS and the morphogenetically distinctly different EWS-associated tumor types may be related.
细胞遗传学上表征黏液样脂肪肉瘤（MLS）的易位t(12;16)(q13;p11)，导致12q13上的CHOP基因与16p11上的FUS基因融合，产生嵌合的FUS/CHOP基因。我们鉴定出两例MLS病例，其易位导致12q13与22q12之间发生重组。结果是22q12上参与多种间充质肿瘤类型的EWS基因的N端部分与CHOP基因融合，并产生了EWS/CHOP嵌合基因。MLS中EWS/CHOP嵌合基因的存在表明：（i）在CHOP融合癌蛋白中，FUS的N端部分可能被EWS的N端部分取代；（ii）这两个N端部分与某些转录因子融合时，具有共同或非常相似的致癌潜力；（iii）MLS中的致瘤过程与形态发生上明显不同的EWS相关肿瘤类型可能有关。
