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

J Mol Diagn. 2003 Aug;5(3):191-4. doi: 10.1016/S1525-1578(10)60472-2.

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).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • CCAAT-Enhancer-Binding Proteins / genetics
  • Chromosomes, Human, Pair 1*
  • Chromosomes, Human, Pair 12*
  • Chromosomes, Human, Pair 16*
  • Chromosomes, Human, Pair 22*
  • Humans
  • Karyotyping
  • Liposarcoma, Myxoid / genetics*
  • Male
  • Oncogene Proteins, Fusion / genetics
  • RNA-Binding Protein EWS / genetics
  • RNA-Binding Protein FUS / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factor CHOP
  • Translocation, Genetic*

Substances

  • CCAAT-Enhancer-Binding Proteins
  • Oncogene Proteins, Fusion
  • RNA-Binding Protein EWS
  • RNA-Binding Protein FUS
  • TLS-CHOP fusion protein, human
  • Transcription Factor CHOP