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Inconspicuous insertion 22;12 in myxoid/round cell liposarcoma accompanied by the secondary structural abnormality der(16)t(1;16).

Authors
  • Birch, Nathan C
  • Antonescu, Cristina R
  • Nelson, Marilu
  • Sarran, Lisa
  • Neff, James R
  • Seemayer, Thomas
  • Bridge, Julia A
Type
Published Article
Journal
Journal of Molecular Diagnostics
Publisher
Elsevier
Publication Date
Aug 01, 2003
Volume
5
Issue
3
Pages
191–194
Identifiers
PMID: 12876210
Source
Medline
License
Unknown

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).

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