title: Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).
abstract: In myxoid/round cell liposarcoma, the t(12;16)(q13;p11) and its associated fusion transcript, FUS-CHOP, characterize greater than 95% of cases. The variant translocation t(12;22)(q13;q12) and associated EWS-CHOP fusion transcript are rare. A second non-random aberration observed in roughly 20% of Ewing's sarcomas, and to a lesser extent other select sarcomas, is the unbalanced 1;16 translocation. Recognition of this secondary aberration in the absence of an obvious primary karyotypic abnormality strongly suggests that the use of other genetic approaches will be informative in uncovering a clinically suspected primary anomaly. The following case illustrates the utility of molecular cytogenetic and reverse transcriptase-polymerase chain reaction techniques in diagnosing an ins(22;12)(q12;q13q14) and associated EWS-CHOP fusion transcript in a myxoid/round cell liposarcoma exhibiting a der(16)t(1;16)(q11;q11).
authors.affiliation: Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.
authors.forename: Nathan C
authors.initials: NC
authors.lastname: Birch
authors.forename: Cristina R
authors.initials: CR
authors.lastname: Antonescu
authors.forename: Marilu
authors.initials: M
authors.lastname: Nelson
authors.forename: Lisa
authors.initials: L
authors.lastname: Sarran
authors.forename: James R
authors.initials: JR
authors.lastname: Neff
authors.forename: Thomas
authors.initials: T
authors.lastname: Seemayer
authors.forename: Julia A
authors.initials: JA
authors.lastname: Bridge
mesh_terms: D000328:Adult; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics; D002878:Chromosomes, Human, Pair 1; D002881:Chromosomes, Human, Pair 12; D002885:Chromosomes, Human, Pair 16; D002892:Chromosomes, Human, Pair 22; D006801:Humans; D007621:Karyotyping; D018208:Liposarcoma, Myxoid / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D034802:RNA-Binding Protein EWS / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D051742:Transcription Factor CHOP; D014178:Translocation, Genetic
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; D015514:Oncogene Proteins, Fusion; D034802:RNA-Binding Protein EWS; D034702:RNA-Binding Protein FUS; C106030:TLS-CHOP fusion protein, human; D051742:Transcription Factor CHOP