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    J Mol Diagn. 2003 Aug;5(3):191-4.

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

    Birch NC, Antonescu CR, Nelson M, Sarran L, Neff JR, Seemayer T, Bridge JA.

    Source

    Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska, USA.

    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).

    PMID:
    12876210
    [PubMed - indexed for MEDLINE]
    PMCID:
    PMC1907333
    Free PMC Article

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