Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16) Journal Article
| Authors: | Birch, N. C.; Antonescu, C. R.; Nelson, M.; Sarran, L.; Neff, J. R.; Seemayer, T.; Bridge, J. A. |
| Article 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). |
| Keywords: | adult; human tissue; case report; molecular genetics; chromosome 12; reverse transcription polymerase chain reaction; genetic transcription; ewing sarcoma; sarcoma; hybrid protein; reverse transcriptase polymerase chain reaction; oncogene proteins, fusion; translocation, genetic; chromosomes, human, pair 1; karyotype; karyotyping; ccaat-enhancer-binding proteins; myxosarcoma; rna-binding protein ews; chromosome 22; chromosomes, human, pair 22; rna-binding protein fus; chromosomes, human, pair 16; structural chromosome aberration; chromosome variant; chromosome insertion; chromosomes, human, pair 12; liposarcoma, myxoid; transcription factor chop; humans; human; male; article; insertion sequences; chromosome translocation 12; chromosome translocation 1; chromosome translocation 16 |
| Journal Title: | Journal of Molecular Diagnostics |
| Volume: | 5 |
| Issue: | 3 |
| ISSN: | 1525-1578 |
| Publisher: | Elsevier Science, Inc. |
| Date Published: | 2003-08-01 |
| Start Page: | 191 |
| End Page: | 194 |
| Language: | English |
| PUBMED: | 12876210 |
| PROVIDER: | scopus |
| PMCID: | PMC1907333 |
| DOI: | 10.1016/S1525-1578(10)60472-2 |
| DOI/URL: | |
| Notes: | Export Date: 12 September 2014 -- Source: Scopus |
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