Journal
ACTA NEUROPATHOLOGICA
Volume 117, Issue 6, Pages 653-656Publisher
SPRINGER
DOI: 10.1007/s00401-009-0528-x
Keywords
Li-Fraumeni syndrome; IDH1 mutation; Astrocytoma; TP53 germline mutation
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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.
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