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Updated: May 14, 2026

Induction of Mesenchymal-Epithelial Transitions in Sarcoma Cells
Published on: April 7, 2017
Microsatellite instability in sarcoma: fact or fiction?
Michael J Monument1, Stephen L Lessnick, Joshua D Schiffman
1Sarcoma Services, Department of Orthopaedics, Huntsman Cancer Institute, University of Utah School of Medicine, 2000 Circle of Hope, Salt Lake City, UT 84112, USA.
Abstract:
Microsatellite instability (MSI) is a unique molecular abnormality, indicative of a deficient DNA mismatch repair (MMR) system. Described and characterized in the colorectal cancer literature, the MSI-positive phenotype is predictive of disease susceptibility, pathogenesis, and prognosis. The clinical relevance of MSI in colorectal cancer has inspired similar inquisition within the sarcoma literature, although unfortunately, with very heterogeneous results. Evolving detection techniques, ill-defined sarcoma-specific microsatellite loci and small study numbers have hampered succinct conclusions. The literature does suggest that MSI in sarcoma is observed at a frequency similar to that of sporadic colorectal cancers, although there is little evidence to suggest that MSI-positive tumors share distinct biological attributes. Emerging evidence in Ewing sarcoma has demonstrated an intriguing mechanistic role of microsatellite DNA in the activation of key EWS/FLI-target genes. These findings provide an alternative perspective to the biological implications of microsatellite instability in sarcoma and warrant further investigation using sophisticated detection techniques, sensitive microsatellite loci, and appropriately powered study designs.
Insights
Microsatellite instability (MSI), a DNA repair deficiency, is being investigated in sarcomas. While its frequency mirrors colorectal cancer, distinct biological attributes are unclear, though it may impact gene activation in Ewing sarcoma.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Microsatellite instability (MSI) signifies deficient DNA mismatch repair (MMR).
- MSI is well-characterized in colorectal cancer, predicting susceptibility, pathogenesis, and prognosis.
- MSI investigation in sarcoma yields heterogeneous results due to detection methods, undefined loci, and small sample sizes.
Purpose of the Study:
- To review the current understanding of MSI in sarcoma.
- To explore the potential biological implications of MSI in sarcomas, particularly Ewing sarcoma.
- To highlight challenges and suggest future research directions for MSI in sarcoma.
Main Methods:
- Literature review of studies investigating MSI in sarcoma.
- Analysis of existing data on MSI frequency and biological characteristics in sarcoma.
- Examination of emerging evidence on the mechanistic role of microsatellites in sarcoma gene activation.
Main Results:
- MSI occurs in sarcomas at a frequency similar to sporadic colorectal cancers.
- Limited evidence suggests MSI-positive sarcoma tumors do not share distinct biological attributes.
- Emerging findings in Ewing sarcoma indicate microsatellite DNA's role in activating EWS/FLI-target genes.
Conclusions:
- MSI in sarcoma requires further investigation with advanced techniques and larger studies.
- The biological significance of MSI in sarcoma may differ from colorectal cancer.
- Microsatellite DNA's role in gene activation presents a novel perspective for sarcoma research.
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