p53 and PTEN gene mutations in gemistocytic astrocytomas

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ID: 120977
1970
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Abstract
The gemistocytic astrocytoma is a histological variant of diffuse astrocytomas and is characterised by the presence of large, GFAP-expressing neoplastic astrocytes (gemistocytes) and a tendency towards rapid progression to glioblastoma. In this study, we analyzed 28 gemistocytic astrocytomas (mean fraction of gemistocytes, 35.0 ± 9.9%) for mutations in the p53 and PTEN (MMAC1) tumour suppressor genes. Single strand conformation polymorphism (SSCP), followed by direct DNA sequencing of p53 exons 5–8, revealed a mutation in 23 of 28 (82%) cases. Regional analysis of four tumours revealed identical p53 mutations in gemistocytic and fibrillary tumour areas. In contrast, none of 15 gemistocytic astrocytomas (WHO Grade II) and only two of 11 (18%) anaplastic gemistocytic astrocytomas (WHO Grade III) contained a PTEN mutation. Of these, one was a 1 bp deletion in codon 345 and the other a 1 bp insertion in intron 4. Differential PCR did not reveal homozygous PTEN deletion in any of the tumours analysed. These results indicate that p53 mutations are a genetic hallmark of gemistocytic astrocytomas, whilst PTEN mutations are absent in low-grade and rare in anaplastic gemistocytic astrocytomas.
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watanabe1970actap53 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors Kunihiko Watanabe;Aurelia Peraud;Catherine Gratas;Susumu Wakai;Paul Kleihues;H. Ohgaki;Kunihiko Watanabe;Aurelia Peraud;Catherine Gratas;Susumu Wakai;Paul Kleihues;H. Ohgaki;
Journal acta neuropathologica
Year 1970
DOI
doi:10.1007/s004010050840
URL
https://link.springer.com/article/10.1007/s004010050840
Keywords
pathology neurosciences

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