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

Nathan C. Birch, Cristina R. Antonescu, Marilu Nelson, Lisa Sarran, James R. Neff, Thomas Seemayer, Julia A. Bridge

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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).

Original languageEnglish (US)
Pages (from-to)191-194
Number of pages4
JournalJournal of Molecular Diagnostics
Volume5
Issue number3
DOIs
StatePublished - Aug 2003
Externally publishedYes

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All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Molecular Medicine

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