Artikel
CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas
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Veröffentlicht: | 11. September 2012 |
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Gliederung
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.