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Molecular cytogenetic studies of pediatric ependymomas

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Abstract

Cytogenetic and molecular studies of ependymomas have previously demonstrated deletions of chromosomes 17 and 22 as frequent abnormalities, implicating inactivation of tumor suppressor genes in the pathogenesis of these tumors. In the present study, we analyzed 22 childhood ependymomas by standard cytogenetic analysis, fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR)-based microsatellite analysis of chromosomes 17 and 22. Microsatellite analysis of chromosome 6 was performed to identify submicroscopic deletions implicated by the cytogenetic studies. Among the 22 cases, we demonstrated loss of chromosome 22 in 2 patients, deletion of chromosome 17 in 2 patients, and rearrangements or deletions of chromosome 6 in 5 patients. These data do not suggest that loss of a gene on chromosome 17p plays a primary role in the initiation of pediatric ependymomas. This is in contrast to what has been reported for pediatric CNS primitive neuroectodermal tumors and malignant astrocytomas, in which deletion of 17p is regarded as a primary event. Furthermore, loss of chromosome 22 may define a subset of ependymomas more commonly seen in adults. Cytogenetic studies in this series, however, suggest that a region on the long arm of chromosome may be involved in the development and/or progression of ependymomas in children.

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Authors and Affiliations

  1. Division of Oncology, Children's Hospital of Philadelphia, USA

    Deborah L. Kramer

  2. Division of Human Genetics and Molecular Biology, Children's Hospital of Philadelphia, USA

    Annette H. Parmiter & Jaclyn A. Biegel

  3. Department of Pathology, Children's Hospital of Philadelphia, USA

    Lucy B. Rorke

  4. Division of Neurosurgery, Children's Hospital of Philadelphia, USA

    Leslie N. Sutton

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  1. Deborah L. Kramer
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  2. Annette H. Parmiter
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  3. Lucy B. Rorke
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  4. Leslie N. Sutton
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  5. Jaclyn A. Biegel
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Kramer, D.L., Parmiter, A.H., Rorke, L.B. et al. Molecular cytogenetic studies of pediatric ependymomas. J Neurooncol 37, 25–33 (1998). https://doi.org/10.1023/A:1005925613992

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