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Microsatellite instability in sacral chordoma.
L Klingler1, J Shooks, P N Fiedler
1Department of Orthopaedic Surgery, Vanderbilt University, Nashville, Tennessee 37232-2550, USA.
Journal of Surgical Oncology
|March 1, 2000
Summary
Microsatellite instability (MIN) is detectable in chordomas, a rare bone cancer. Loss of heterozygosity (LOH) may indicate a poorer prognosis than MIN in these tumors.
Area of Science:
- Oncology
- Molecular Genetics
- Cancer Research
Background:
- Microsatellite instability (MIN) signifies defective DNA mismatch repair in cancer.
- Chordomas are rare skeletal malignancies with limited known molecular markers.
- The presence of MIN in chordomas remains largely uninvestigated.
Purpose of the Study:
- To determine if microsatellite instability (MIN) is present in human chordomas.
- To investigate the potential association between MIN, loss of heterozygosity (LOH), and clinical outcomes in chordoma patients.
Main Methods:
- Analysis of sacral chordoma samples from 12 patients.
- Evaluation for MIN at 9 genetic loci using polymerase chain reaction (PCR).
- Assessment of loss of heterozygosity (LOH) at various genetic markers.
Main Results:
- Fifty percent of chordoma patients (6/12) exhibited MIN at one or more loci.
- Two patients displayed loss of heterozygosity (LOH).
- One patient with LOH but no MIN showed aggressive disease progression, including metastasis.
Conclusions:
- Chordomas exhibit microsatellite instability (MIN), adding them to the spectrum of MIN-positive malignancies.
- Loss of heterozygosity (LOH) may be a more significant prognostic indicator than MIN in chordomas.
- Further research is warranted to elucidate the prognostic value of LOH in chordoma.