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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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Numerical and structural chromosomal anomalies in undifferentiated pleomorphic sarcoma
Mustafa Becerikli1, Stefan Wieczorek2, Ingo Stricker3
1Department of Plastic Surgery, BG University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany mustafa.becerikli@rub.de.
Anticancer Research
|December 16, 2014
Summary
Undifferentiated pleomorphic sarcoma (UPS) rarely shows specific chromosomal breaks or gene amplifications. However, this common soft-tissue sarcoma frequently exhibits numerical chromosome abnormalities, particularly polysomies.
Area of Science:
- Oncology
- Genetics
- Cytogenetics
Background:
- Malignant fibrous histiocytoma (MFH), now known as undifferentiated pleomorphic sarcoma (UPS), is a prevalent soft-tissue sarcoma in adults.
- Genetic characterization of UPS is crucial for advancing understanding and treatment.
- This study aimed to identify chromosomal anomalies in UPS.
Purpose of the Study:
- To investigate numerical and structural chromosomal anomalies in undifferentiated pleomorphic sarcoma (UPS).
- To assess the presence of specific chromosomal translocations and oncogene amplifications in UPS.
- To characterize the karyotype of UPS samples.
Main Methods:
- Fluorescence in situ hybridization (FISH) was employed on interphase nuclei.
- Investigated 19 UPS samples and one UPS/MFH cell line (U2197).
- Examined five sarcoma-specific chromosomal translocations and five oncogene amplifications, alongside the numerical karyotype.
Main Results:
- Sarcoma-specific chromosomal translocations involving CHOP, SYT, EWS, FUS, and FKHR genes were absent.
- Amplification of ERBB2 and MDM2 genes was observed in 10.5% of cases each.
- EGFR, C-MYC, and N-MYC genes were not amplified; predominant aneuploidies were found in eight chromosomes.
Conclusions:
- Sarcoma-specific chromosomal breaks and oncogene amplifications are rare in UPS.
- Polysomic chromosomes are a more characteristic feature of undifferentiated pleomorphic sarcoma.
- These findings contribute to the genetic understanding of UPS.
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