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57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

German Society for Neuropathology and Neuroanatomy

12. - 15.09.2012, Erlangen

57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN)

CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas

Meeting Abstract

  • presenting/speaker Felix Sahm - Ruprecht-Karls-Universität Heidelberg, Department of Neuropathology, Heidelberg, Germany; German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany
  • Christian Koelsche - Ruprecht-Karls-Universität Heidelberg, Department of Neuropathology, Heidelberg, Germany
  • Jochen Meyer - German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany
  • Stefan Pusch - German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany
  • Kerstin Lindenberg - German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany
  • Wolf Mueller - Ruprecht-Karls-Universität Heidelberg, Department of Neuropathology, Heidelberg, Germany
  • Christel Herold-Mende - Ruprecht-Karls-Universität, Division of Neurosurgical Research, Department of Neurosurgery, Heidelberg, Germany
  • Andreas von Deimling - Ruprecht-Karls-Universität Heidelberg, Department of Neuropathology, Heidelberg, Germany; German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany
  • Christian Hartmann - Ruprecht-Karls-Universität Heidelberg, Department of Neuropathology, Heidelberg, Germany; German Cancer Research Center, Clinical Cooperation Unit Neuropathology G380, Heidelberg, Germany

Deutsche Gesellschaft für Neuropathologie und Neuroanatomie. 57th Annual Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN). Erlangen, 12.-15.09.2012. Düsseldorf: German Medical Science GMS Publishing House; 2012. Doc12dgnnPP3.29

DOI: 10.3205/12dgnn073, URN: urn:nbn:de:0183-12dgnn0736

Published: September 11, 2012

© 2012 Sahm et al.
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Outline

Text

CIC and FUBP1 mutations have recently been detected in oligodendrogliomas. Although allelic losses on chromosomal arms 19q and 1p, where CIC and FUBP1 are localized, represent common features of both oligodendrogliomas and oligoastrocytomas, no CIC or FUBP1 mutations have been detected in oligoastrocytomas so far.

We analysed 42 oligoastrocytomas and a confirmation set of 18 oligodendrogliomas for CIC and FUBP1 mutations. In addition, we assessed 10 astrocytomas and 16 glioblastomas with allelic losses on 19q as well as a set of 12 medulloblastomas for CIC mutations. CIC mutations were found in 15/18 oligodendrogliomas, 14/42 oligoastrocytomas and 3/10 preselected astrocytomas. All but one CIC mutations were observed in tumors with combined 1p/19q losses. In contrast to oligodendrogliomas, where 1p/19q co-deletions were always combined with CIC mutations, only 52% of the 1p/19q co-deleted oligoastrocytomas harboured a CIC mutation. FUBP1 mutations were detected in 7/61 tumors, all presenting with concurrent CIC mutations. FUBP1 mutations were frequently located in the DNA binding domain spanning exons 5 to 14. Both CIC and FUBP1 mutations exclusively occurred in presence of mutant IDH1/2.

Our data confirm CIC and FUBP1 mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas.