PTEN mutations in gliomas and glioneuronal tumors

Eva Maria Duerr, Britta Rollbrocker, Yutaka Hayashi, Nils Peters, Birgit Meyer-Puttlitz, David N. Louis, Johannes Schramm, Otmar D. Wiestler, Ramon Parsons, Charis Eng, Andreas Von Deimling

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313 Scopus citations


Cytogenetic and loss of heterozygosity studies have suggested the presence of at least one tumor suppressor gene on chromosome 10 involved in the formation of high grade gliomas. Recently, the PTEN gene, also termed MMAC1 or TEP1, on chromosomal band 10q23 has been identified. Initial studies revealed mutations of PTEN in limited series of glioma cell lines and glioblastomas. In order to systematically evaluate the involvement of PTEN in gliomas, we have analysed the entire PTEN coding sequence by SSCP and direct sequencing in a series of 331 gliomas and glioneuronal tumors. PTEN mutations were detected in 20/142 glioblastomas, 1/7 giant cell glioblastomas, 1/2 gliosarcomas, 1/30 pilocytic astrocytomas and 2/22 oligodendrogliomas. No PTEN mutations were detected in 52 astrocytomas, 37 oligoastrocytomas, three subependymal giant cell astrocytomas, four pleomorphic xanthoastrocytomas, 15 ependymomas, 16 gangliogliomas and one dysembryoplastic neuroepithelial tumor. In addition, all tumors were examined for the presence of homozygous deletions of the PTEN gene; these were detected in 7 glioblastomas that did not have PTEN mutations. Therefore, PTEN mutations occur in approximately 20% of glioblastomas but are rare in lower grade gliomas. These findings confirm that PTEN is one of the chromosome 10 tumor suppressor genes involved in the development of glioblastomas.

Original languageEnglish
Pages (from-to)2259-2264
Number of pages6
Issue number17
StatePublished - 30 Apr 1998
Externally publishedYes


  • Ganglioglioma
  • Glioblastoma
  • Oligodendroglioma
  • PTEN mutations


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