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Genotype-phenotype correlation in gemistocytic astrocytomas.
S Kösel1, B W Scheithauer, M B Graeber
1Department of Neuromorphology, Max-Planck-Institute of Neurobiology, Martinsried, Germany.
Neurosurgery
|January 11, 2001
Summary
Gemistocytic astrocytomas show a higher frequency of p53 mutations, a common genetic alteration in these aggressive brain tumors. Further research is needed to determine if these p53 mutations drive the aggressive behavior of gemistocytic astrocytomas.
Area of Science:
- Neuro-oncology
- Molecular pathology
- Genetics of brain tumors
Background:
- Gemistocytic astrocytomas are aggressive brain tumors with a poor prognosis.
- Previous studies suggest a higher incidence of p53 mutations in gemistocytic astrocytomas compared to other astrocytomas.
Purpose of the Study:
- To investigate the frequency and characteristics of p53 gene mutations in gemistocytic astrocytomas.
- To correlate p53 mutations with clinical and morphologic features of these tumors.
Main Methods:
- Sequencing of exons 5 to 8 of the p53 gene in 25 gemistocytic astrocytoma samples.
- Morphometric analysis of gemistocytes using image analysis software.
- Correlation of p53 mutation status with patient age, p53 protein accumulation, and tumor cell morphology.
Main Results:
- 16 out of 25 (64%) gemistocytic astrocytomas harbored p53 missense mutations, primarily in exon 8.
- Mutations were clustered at specific codons, with a higher frequency than previously reported.
- Patients with p53 mutations were younger and their tumors showed increased p53 protein accumulation.
- Atypical gemistocytes and shorter survival were associated with the absence of wild-type p53 alleles.
Conclusions:
- The study confirms a significantly higher frequency of p53 mutations in gemistocytic astrocytomas.
- The precise role of high p53 mutation frequency in the aggressive behavior of gemistocytic astrocytomas remains to be elucidated.