Abstract
Myxoid/round-cell liposarcoma (MLS/RCLS) is characterized by either the fusion gene FUS-DDIT3 or the less commonly occurring EWSR1-DDIT3 and most cases carry few or no additional cytogenetic changes. There are conflicting reports concerning the status and role of TP53 in MLS/RCLS. Here we analysed four MLS/RCLS derived cell lines for TP53 mutations, expression and function. Three SV40 transformed cell lines expressed normal TP53 proteins. Irradiation caused normal posttranslational modifications of TP53 and induced P21 expression in two of these cell lines. Transfection experiments showed that the FUS-DDIT3 fusion protein had no effects on irradiation induced TP53 responses. Ion Torrent AmpliSeq screening, using the Cancer Hotspot panel, showed no dysfunctional or disease associated alleles/mutations. In conclusion, our results suggest that most MLS/RCLS cases carry functional TP53 genes and this is consistent with the low numbers of secondary mutations observed in this tumor entity.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Cell Line, Transformed
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Cell Line, Tumor
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Cyclin-Dependent Kinase Inhibitor p21 / biosynthesis
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Cyclin-Dependent Kinase Inhibitor p21 / genetics
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Genomic Instability
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Humans
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Liposarcoma, Myxoid / genetics*
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Liposarcoma, Myxoid / metabolism
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Mutation*
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Tumor Suppressor Protein p53 / genetics*
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Tumor Suppressor Protein p53 / metabolism
Substances
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CDKN1A protein, human
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Cyclin-Dependent Kinase Inhibitor p21
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TP53 protein, human
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Tumor Suppressor Protein p53
Grants and funding
This work was supported by grants from: ALF Västra Götalandsregionen, Swedish Cancer Society, Assar Gabrielssons Research Foundation, Johan Jansson Foundation for Cancer Research, Swedish Society for Medical Research, BioCARE National Strategic Research Program at University of Gothenburg, Wilhelm and Martina Lundgren Foundation for Scientific Research, and the Swedish Research Council (2367). AS has a collaborative research grant from Thermo Fisher Scientific. The funder provided support in the form of salaries for authors (CYL, DR, SMC), but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the “author contributions” section.