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Acta Neuropathol. 2009 Jun;117(6):653-6. doi: 10.1007/s00401-009-0528-x. Epub 2009 Apr 2.

Selective acquisition of IDH1 R132C mutations in astrocytomas associated with Li-Fraumeni syndrome.

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Pathology Group, International Agency for Research on Cancer, Lyon, France.


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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