gms | German Medical Science

64. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC)

Deutsche Gesellschaft für Neurochirurgie (DGNC) e. V.

26. - 29. Mai 2013, Düsseldorf

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Comprehensive high-resolution genomic profiling and cytogenetics of two pediatric and one adult medulloblastoma

Meeting Abstract

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  • Li-Xin Xu - Department of Neurosurgery, University of Leipzig, Leipzig, Germany; Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany
  • Heidrun Holland - Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany; Medical Faculty, University of Leipzig, Leipzig, Germany
  • Peter Ahnert - Translational Centre for Regenerative Medicine (TRM), University of Leipzig, Leipzig, Germany; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany; LIFE Center (Leipzig Interdisciplinary Research Cluster of Genetic Factors, Phenotypes and Environment), University of Leipzig, Leipzig, Germany
  • Manfred Bauer - Department of Neuropathology, University of Leipzig, Leipzig, Germany
  • Jürgen Meixensberger - Department of Neurosurgery, University of Leipzig, Leipzig, Germany
  • Wolfgang Krupp - Department of Neurosurgery, University of Leipzig, Leipzig, Germany

Deutsche Gesellschaft für Neurochirurgie. 64. Jahrestagung der Deutschen Gesellschaft für Neurochirurgie (DGNC). Düsseldorf, 26.-29.05.2013. Düsseldorf: German Medical Science GMS Publishing House; 2013. DocP 147

doi: 10.3205/13dgnc564, urn:nbn:de:0183-13dgnc5645

Veröffentlicht: 21. Mai 2013

© 2013 Xu et al.
Dieser Artikel ist ein Open Access-Artikel und steht unter den Creative Commons Lizenzbedingungen (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.de). Er darf vervielfältigt, verbreitet und öffentlich zugänglich gemacht werden, vorausgesetzt dass Autor und Quelle genannt werden.

Gliederung

Text

Objective: Medulloblastoma (WHO grade IV) is a malignant, invasive embryonal tumor which mainly occurs in children and represents less than 1% of all adult brain tumors. Current clinical management includes the combination of surgical resection, craniospinal radiotherapy and chemotherapy. Furthermore, the choice of post-operative therapy and prediction of prognosis are becoming more dependent on molecular biological analyses. Systematic comprehensive genetic analyses on medulloblastomas are limited but necessary to provide more detailed information.

Method: We performed comprehensive cytogenetic analyses (blood and tissue) of two pediatric and one adult medulloblastoma, using trypsin-Giemsa staining (GTG-banding), spectral karyotyping (SKY, only tissues), molecular karyotyping using genome wide SNP-arrays and gene expression analyses.

Results: We confirmed frequently detected chromosomal aberrations in medulloblastoma, such as +7q, -8p/q, -9q, -11q, -12q, and +17q and identified novel genetic events. Applying SNP-array, we identified constitutional de novo losses 5q21.1, 15q11.2, 17q21.31, 19p12 (pediatric medulloblastoma), 9p21.1. 19p12, 19q13.3, 21q11.2 (adult medulloblastoma) and gains 16p11.1-16p11.2, 18p11.32, Yq11.223-Yq11.23 (pediatric medulloblastoma), Xp22.31 (adult medulloblastoma) possibly representing inherited causal events for medulloblastoma formation. We show evidence for somatic segmental uniparental disomy in regions 1p36, 6q16.3, 6q24.1, 14q21.2, 17p13.3, and 17q22 not previously described for primary medulloblastoma. Gene expression analysis supported classification of the adult medulloblastoma to the WNT-subgroup and classification of pediatric medulloblastomas to group 3 tumors.

Conclusions: Our findings suggest that analyses of tumors and matched normal tissues (blood) with a combination of complementary techniques will help to further elucidate potentially causal genetic events for medulloblastomas.