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- W2049440681 abstract "We report on a 24‐year‐old woman who was diagnosed as having Maffucci syndrome with anaplastic astrocytoma. We analyzed the IDH 1 and IDH 2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH 2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP 53 gene in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH 2 mutation in multiple tissues and TP 53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. This case is unique and supports the IDH 2‐dependent genetic pathway and second‐hit model for gliomagenesis." @default.
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- W2049440681 date "2014-03-01" @default.
- W2049440681 modified "2023-10-07" @default.
- W2049440681 title "IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome" @default.
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- W2049440681 doi "https://doi.org/10.1111/cas.12337" @default.
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