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

Kunihiko Moriya; Mika K. Kaneko; Xing Liu; Masami Hosaka; Fumiyoshi Fujishima; Jun Sakuma; Satoshi Ogasawara; Mika Watanabe; Yoji Sasahara; Shigeo Kure; Yukinari Kato

doi:10.1111/cas.12337

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

Kunihiko Moriya, Mika K. Kaneko, Xing Liu, Masami Hosaka, Fumiyoshi Fujishima, Jun Sakuma, Satoshi Ogasawara, Mika Watanabe, Yoji Sasahara, Shigeo Kure, Yukinari Kato

Research output: Contribution to journal › Article › peer-review

24 Citations (Scopus)

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. 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.

Original language	English
Pages (from-to)	359-362
Number of pages	4
Journal	Cancer Science
Volume	105
Issue number	3
DOIs	https://doi.org/10.1111/cas.12337
Publication status	Published - 2014 Mar

Keywords

Anaplastic astrocytoma
Gliomagenesis
IDH2 mutation
Maffucci syndrome
TP53

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "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. 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.",

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year = "2014",

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doi = "10.1111/cas.12337",

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AU - Moriya, Kunihiko

AU - Kaneko, Mika K.

AU - Liu, Xing

AU - Hosaka, Masami

AU - Fujishima, Fumiyoshi

AU - Sakuma, Jun

AU - Ogasawara, Satoshi

AU - Watanabe, Mika

AU - Sasahara, Yoji

AU - Kure, Shigeo

AU - Kato, Yukinari

PY - 2014/3

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N2 - 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. 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.

AB - 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. 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.

KW - Anaplastic astrocytoma

KW - Gliomagenesis

KW - IDH2 mutation

KW - Maffucci syndrome

KW - TP53

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

Abstract

Keywords

UN SDGs

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