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A rare chimeric TLS/FUS-CHOP transcript in a patient with multiple liposarcomas: a case report
R Schneider-Stock1, J Rys, H Walter
1Department of Pathology, Otto-von-Guericke University, Magdeburg, Germany.
Cancer Genetics and Cytogenetics
|May 29, 1999
Summary
Myxoid liposarcomas feature a specific t(12;16) translocation involving TLS/FUS and CHOP genes. This study found a fusion transcript in multiple tumors, suggesting they are metastases rather than independent primary growths.
Area of Science:
- Oncology
- Cytogenetics
- Molecular Biology
Background:
- Myxoid liposarcomas are characterized by a specific chromosomal translocation, t(12;16)(q13,p11).
- The translocation involves the TLS/FUS gene on chromosome 16 and the CHOP gene on chromosome 12.
- Understanding this translocation is crucial for diagnosing and understanding the origin of these tumors.
Observation:
- A case of a 45-year-old woman with multiple malignant lipomatous tumors of myxoid/round cell histology was investigated.
- Cytogenetic and molecular cytogenetic methods, including reverse transcription polymerase chain reaction (RT-PCR), were employed.
- A chimeric RNA transcript (fusion transcript type III) was identified in tumors from different locations (thigh/groin recurrence and mediastinum).
Findings:
- A rare unbalanced translocation, der(16)t(12;16), was detected in a retroperitoneal tumor.
- The presence of the identical fusion transcript in tumors from distinct anatomical sites supports a metastatic origin.
- The findings suggest the multiple tumors are likely metastases rather than multicentric primary neoplasms.
Implications:
- The detection of the chimeric message is valuable for the differential diagnosis of myxoid liposarcomas.
- This molecular marker aids in investigating the origin and metastatic potential of multiple liposarcomas.
- The study provides insights into the clonal evolution and spread of myxoid liposarcomas.