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Intracranial Pediatric Ependymoma: Role of Cytogenetic Markers Using Comparative Genomic Hybridization and Fluorescent In Situ Hybridization

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Pediatric Cancer, Volume 3

Part of the book series: Pediatric Cancer ((PECA,volume 3))

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Abstract

Pediatric ependymoma are enigmatic tumors that continue to present a clinical management challenge despite advances in neurosurgery, neuroimaging techniques, and radiation therapy. Difficulty in predicting tumor behavior from clinical and histological factors has shifted the focus to the molecular biology of ependymoma in order to identify new correlates of disease outcome and novel therapeutic targets. The biologic behavior of intracranial ependymoma is unpredictable on the basis of current staging approaches. Patient age at diagnosis and tumor location has also been suggested as prognostic factors. Children below 3 years of age and infratentorial ependymoma have been associated with a poor outcome. Poor outcome and the unpredictable behavior of this tumor in children have turned attention to improving the knowledge of ependymoma biology. Nevertheless, an enhanced understanding of the biology of ependymoma remains crucial if we are to identify additional prognostic markers, discover molecular targets for novel or existing therapeutic agents in the clinic and allow adjuvant therapy to be tailored according to tumor-specific molecular characteristics. Progress in these areas could minimize the long term adverse effects of therapy and improve patient survival. Before the advent of detailed genomic analysis, karyotypic studies had found that pediatric ependymoma showed a spectrum of complexity ranging from single rearrangements to structural and numerical aberrations. The most frequently used technique for high resolution genomic analysis of ependymoma to date has been comparative genomic hybridization (CGH) and fluorescent in situ hybridization (FISH). Recently, the advent of array-CGH has enabled the identification of genomic imbalances at a higher resolution than conventional metaphase CGH. Ependymoma with few and often partial chromosomal imbalances may confer a worse prognosis and are more likely to occur in younger children. At present, the explanations for this remain unclear. Genomic aberrations in ependymoma are powerful independent markers of disease progression and survival. By adding genetic markers to established clinical and histopathologic variables, outcome prediction can potentially be improved.

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  1. Laboratory of Oncology, Department of Laboratory and Experimental Medicine, Instituto Giannina Gaslini, Largo G. Gaslini, 5, 16147, Genoa, Italy

    Annalisa Pezzolo

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  1. Annalisa Pezzolo
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Correspondence to Annalisa Pezzolo .

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  1. Biology, Kean University, Union, New Jersey, USA

    M.A. Hayat

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Pezzolo, A. (2012). Intracranial Pediatric Ependymoma: Role of Cytogenetic Markers Using Comparative Genomic Hybridization and Fluorescent In Situ Hybridization. In: Hayat, M. (eds) Pediatric Cancer, Volume 3. Pediatric Cancer, vol 3. Springer, Dordrecht. https://doi.org/10.1007/978-94-007-4528-5_27

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