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Microsatellite instability in sarcomas

S S Martin1, W G Hurt, L K Hedges

  • 1Department of Orthopaedics, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2550, USA.

Annals of Surgical Oncology
|June 26, 1998
PubMed
Summary
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Microsatellite instability (MIN) was found in 44% of musculoskeletal sarcomas studied. This DNA repair defect may explain the wide variety of these rare cancers.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Microsatellite instability (MIN) is a known biomarker in various carcinomas and gynecologic sarcomas.
  • MIN has not been previously investigated in musculoskeletal sarcomas.

Purpose of the Study:

  • To investigate the presence and extent of microsatellite instability (MIN) in musculoskeletal sarcomas.
  • To identify potential genetic loci associated with MIN in these tumor types.

Main Methods:

  • Analysis of 16 skeletal and soft tissue sarcomas.
  • Evaluation of nine genetic loci across multiple chromosomal regions (1q, 5q, 7q, 11p, 12p, 13q, 17p, 19q).

Main Results:

  • Microsatellite instability (MIN) was detected in 7 out of 16 (44%) tumors studied.

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  • Three tumors exhibited MIN at multiple loci.
  • One high-grade osteogenic sarcoma showed MIN at five out of nine evaluated loci.

    • Conclusions:

    • Musculoskeletal sarcomas demonstrate genetic instability in regions both within and outside known oncogenes.
    • Microsatellite instability, indicative of DNA mismatch repair defects, may contribute to the significant heterogeneity observed in musculoskeletal neoplasms.