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

研究成果: Article査読

21 被引用数 (Scopus)

抄録

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.

本文言語English
ページ(範囲)359-362
ページ数4
ジャーナルCancer science
105
3
DOI
出版ステータスPublished - 2014 3

ASJC Scopus subject areas

  • 腫瘍学
  • 癌研究

フィンガープリント

「IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル