CIC and FUBP1 mutations in oligodendrogliomas, oligoastrocytomas and astrocytomas
CIC and FUBP1 mutations have recently been detected in oligodendrogliomas but not in oligoastrocytomas. However, allelic losses in the regions on chromosomal arms 19q and 1p harboring CIC and FUBP1 are a common feature of both, oligodendrogliomas and oligoastrocytomas. To resolve this discrepancy, w...
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Veröffentlicht in: | Acta neuropathologica 2012-06, Vol.123 (6), p.853-860 |
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Sprache: | eng |
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Zusammenfassung: | CIC
and
FUBP1
mutations have recently been detected in oligodendrogliomas but not in oligoastrocytomas. However, allelic losses in the regions on chromosomal arms 19q and 1p harboring
CIC
and
FUBP1
are a common feature of both, oligodendrogliomas and oligoastrocytomas. To resolve this discrepancy, we analyzed
CIC
and
FUBP1
mutations in a set of primary brain tumors including 18 oligodendrogliomas and 42 oligoastrocytomas. In addition, we analyzed 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. With the exception of a single case, all
CIC
mutations occurred in tumors with combined 1p/19q losses. In contrast to oligodendrogliomas where
CIC
mutations were always detected along with 1p/19q co-deletion,
CIC
mutations were only found in 52 % of the 1p/19q co-deleted oligoastrocytomas.
FUBP1
mutations were detected in 7/61 tumors, all presenting with
CIC
mutations.
FUBP1
mutations appear to cluster in the DNA binding domain spanning exons 5–14.
CIC
and
FUBP1
mutations exclusively occurred in presence of either
IDH1
or
IDH2
mutations. Our data confirm
CIC
and
FUBP1
mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas. |
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ISSN: | 0001-6322 1432-0533 |
DOI: | 10.1007/s00401-012-0993-5 |