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Low frequency of replication errors in primary nervous system tumours.
M J Sobrido1, C R Pereira, F Barros
1Department of Neurology, Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain. msobrido@ucla.edu
Journal of Neurology, Neurosurgery, and Psychiatry
|August 17, 2000
Summary
Microsatellite instability (MIN) is rare in adult primary CNS tumors, with a true replication error phenotype being uncommon. MIN was more frequent in tetranucleotide repeats and associated with spinal schwannomas.
Area of Science:
- Neuro-oncology
- Molecular genetics
- Cancer research
Background:
- Microsatellite instability (MIN) is a genetic alteration observed in various cancers.
- Its role in primary central nervous system (CNS) tumors is not well-defined.
- Automated DNA technology offers precise analysis of genetic instability.
Purpose of the Study:
- To investigate the incidence of MIN in common adult primary CNS tumors.
- To correlate MIN with clinicopathological characteristics.
- To assess the significance of the replication error (RER+) phenotype.
Main Methods:
- Automated DNA analysis using fluorescent polymerase chain reaction (PCR) and fragment analysis.
- Screening of 56 gliomas, 32 meningiomas, and 11 schwannomas for microsatellite size changes.
- Defining MIN+ (instability in ≥1 locus) and RER+ (instability in ≥25% of loci) phenotypes.
Main Results:
- Overall instability rate was 2.47%, higher in tetranucleotide than dinucleotide repeats.
- MIN+ tumors: 17.9% gliomas, 6.3% meningiomas, 18.2% schwannomas.
- RER+ phenotype was uncommon; MIN associated with shorter clinical course in meningiomas and spinal schwannomas.
Conclusions:
- Microsatellite instability occurs at a low rate in primary CNS tumors.
- A widespread replication error phenotype is rare and unlikely to be a major pathogenic factor.
- This study is the first to report MIN in schwannomas, noting an association with spinal tumors.