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Updated: Jun 6, 2026
Mapping the Structure-Function Relationships of Disordered Oncogenic Transcription Factors Using Transcriptomic Analysis
Published on: June 27, 2020
Myxoid liposarcoma with EWS-CHOP type 1 fusion gene
Kayo Suzuki1, Yoshito Matsui, Kenji Endo
1Departments of Orthopaedic Surgery, University of Toyama, Toyama 930-0194, Japan.
Background:
In myxoid liposarcoma (MLS), the t(12;16)(q13;p11) chromosomal translocation and its resultant fusion transcript, the human translocation liposarcoma (TLS)-CCAAT/enhancer binding protein (C/EBP) homologous protein (CHOP), are found in the majority of cases. On the other hand, the variant translocation, t(12;22)(q13;q12) creating the Ewing sarcoma (EWS)-CHOP fusion transcript, is detectable in a limited number of cases.
Patients And Methods:
Tissue from MLS arising in the left thigh of a 19-year-old female was analyzed for possible detection of chromosome translocation and fusion transcript. Fluorescent in situ hybridization (FISH) and reverse transcription-polymerase chain reaction (RT-PCR) methods were used.
Results:
FISH analysis demonstrated a rearrangement in the CHOP gene. RT-PCR analysis confirmed the presence of EWS-CHOP chimeric transcript type 1, in which exon 7 of EWS was in-frame fused to exon 2 of CHOP with a serine (AGT) to methionine (ATG) transition at the junction. The patient underwent a radical segmental resection including a left vastus medialis musclectomy. Sixty months following the surgical resection, the patient was alive with no evidence of disease.
Conclusion:
Analysis of MLS with EWS-CHOP variant transcripts, type 1 through type 4, including this case together with 15 cases in the literature, indicated that MLS with type 1 fusion transcript may show a more favorable clinical behavior than MLS with other types of fusion transcript.
