title: Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features.
abstract: It is well established that the majority of myxoid/round cell liposarcomas (LPS) are characterized by a reciprocal translocation t(12;16)(q13;p11) which at the molecular level results infusion of the CHOP and FUS/TLS genes. It is assumed that functional characterization of these genes may provide insight into the molecular pathogenesis of this tumour type. This study describes two new cases of myxoid/round cell LPS having a t(12;22). By reverse transcription-polymerase chain reaction (RT-PCR) it has been shown that this leads to fusion between the CHOP and EWS genes, thus indicating involvement of the EWS gene, at least occasionally, in yet another sarcoma type. Combining these two cases with two others which were recently similarly characterized at the molecular level, their clinicopathological features have been compared with cases having the more usual t(12;16). It was not possible to identify any clinical or pathological differences between these molecular genetic subsets. The relevance or significance of these gene fusion products in myxoid/round cell LPS remains to be determined.
authors.affiliation: Centre for Human Genetics and Flanders Institute of Biotechnology, Leuven, Belgium.
authors.forename: P
authors.initials: P
authors.lastname: Dal Cin
authors.forename: R
authors.initials: R
authors.lastname: Sciot
authors.forename: I
authors.initials: I
authors.lastname: Panagopoulos
authors.forename: P
authors.initials: P
authors.lastname: Aman
authors.forename: I
authors.initials: I
authors.lastname: Samson
authors.forename: N
authors.initials: N
authors.lastname: Mandahl
authors.forename: F
authors.initials: F
authors.lastname: Mitelman
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
authors.forename: C D
authors.initials: CD
authors.lastname: Fletcher
mesh_terms: D000328:Adult; D022762:CCAAT-Enhancer-Binding Proteins; D003001:Cloning, Molecular; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D006801:Humans; D007621:Karyotyping; D018208:Liposarcoma, Myxoid / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; D012261:Ribonucleoproteins / Q000235:genetics*; D051742:Transcription Factor CHOP; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C497249:DDIT3 protein, human; D004268:DNA-Binding Proteins; D034441:Heterogeneous-Nuclear Ribonucleoproteins; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; D012261:Ribonucleoproteins; D014157:Transcription Factors; D051742:Transcription Factor CHOP