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IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.

ABSTRACT: We report on a 24-year-old woman 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 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 supports the IDH2-dependent genetic pathway and second-hit model for gliomagenesis.

SUBMITTER: Moriya K

PROVIDER: S-EPMC4317937 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome.

Moriya Kunihiko K Kaneko Mika K MK Liu Xing X Hosaka Masami M Fujishima Fumiyoshi F Sakuma Jun J Ogasawara Satoshi S Watanabe Mika M Sasahara Yoji Y Kure Shigeo S Kato Yukinari Y

Cancer science 20140301 3

We report on a 24-year-old woman 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 in anaplastic astrocytoma tissue but not in other benign tumors. This is the first report of the detection of an identical IDH2 mutation in ...[more]

PMID: 24344754

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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome.

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Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell haemangioma in Ollier disease and Maffucci syndrome

Project description:This SuperSeries is composed of the SubSeries listed below.

2011-11-05 | GSE30844 | GEO

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