Wiley Open Access, Cancer Science, 3(105), p. 359-362, 2014
DOI: 10.1111/cas.12337
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WE REPORT A 24-YEAR-OLD FEMALE WHO WAS DIAGNOSED AS HAVING MAFFUCCI SYNDROME WITH: anaplastic astrocytoma. We analyzed the IDH1 and IDH2 mutations of enchondroma, hemangioma and anaplastic astrocytoma tissues and the same somatic mosaic mutation in IDH2 gene was identified in all these tissues. In addition, we identified additional mutation of the TP53 gene exclusively in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH2 mutation in multiple tissues and TP53 mutation in anaplastic astrocytoma in a patient with Maffucci syndrome. This case is unique and suggestive for supporting the IDH2-dependent genetic pathway and second-hit model for the gliomagenesis. This article is protected by copyright. All rights reserved.