Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.
In: Acta neuropathologica, Jg. 117 (2009-06-01), Heft 6, S. 653-6
Online
academicJournal
Zugriff:
Mutations of the IDH1 gene are frequent in gliomas, with R132H (CGT-->CAT) being the most common (>85%). In astrocytomas, IDH1 mutations are typically co-present with, or precede, TP53 mutations. We assessed IDH1 mutations in brain tumors diagnosed in patients from three families with Li-Fraumeni syndrome. We identified IDH1 mutations in five astrocytomas that developed in carriers of a TP53 germline mutation. Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. This remarkably selective occurrence of R132C mutations may reflect differences in the sequence of genetic events, with a preference for R132C mutations in astrocytes or precursor cells that already carry a germline TP53 mutation.
Titel: |
Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.
|
---|---|
Autor/in / Beteiligte Person: | Watanabe, T ; Vital, A ; Nobusawa, S ; Kleihues, P ; Ohgaki, H |
Link: | |
Zeitschrift: | Acta neuropathologica, Jg. 117 (2009-06-01), Heft 6, S. 653-6 |
Veröffentlichung: | Berlin : Springer Verlag, 2009 |
Medientyp: | academicJournal |
ISSN: | 1432-0533 (electronic) |
DOI: | 10.1007/s00401-009-0528-x |
Schlagwort: |
|
Sonstiges: |
|