Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).
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).
Birch
Nathan C
NC
Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Antonescu
Cristina R
CR
Nelson
Marilu
M
Sarran
Lisa
L
Neff
James R
JR
Seemayer
Thomas
T
Bridge
Julia A
JA
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
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