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 journalArticlepeer-review

20 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 languageEnglish
Pages (from-to)359-362
Number of pages4
JournalCancer science
Volume105
Issue number3
DOIs
Publication statusPublished - 2014 Mar

Keywords

  • Anaplastic astrocytoma
  • Gliomagenesis
  • IDH2 mutation
  • Maffucci syndrome
  • TP53

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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