Microsatellite Instability in Sarcoma: Fact or Fiction?. (18th July 2012)

• Record Type: Journal Article
• Authors: Monument, Michael J.; Lessnick, Stephen L.; Schiffman, Joshua D.; Randall, Rl. Tx.
• Other Names: Mutti L. Academic Editor.; Sionov R. V. Academic Editor.
• Is Part Of: ISRN oncology. Volume 2012(2012)
• Publication Date: 2012-07-18
• Subjects: Oncology -- Periodicals; Neoplasms; Oncology; Periodicals; 616.994
• DOI: 10.5402/2012/473146
• Languages: English
• ISSNs: 2090-5661

Abstract

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.