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JMD 2003, Vol. 5, No. 3
Copyright © 2003 American Society for Investigative Pathology & Association for Molecular Pathology

Consultations in Molecular Diagnostics

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^* and Julia A. Bridge^*

From the Departments of Pathology and Microbiology, * Pediatrics, and Orthopaedic Surgery, University of Nebraska Medical Center, Omaha, Nebraska; and the Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York

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).