Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2014 Mar;105(3):359-62.
doi: 10.1111/cas.12337.

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

Kunihiko Moriya  1 , Mika K Kaneko, Xing Liu, Masami Hosaka, Fumiyoshi Fujishima, Jun Sakuma, Satoshi Ogasawara, Mika Watanabe, Yoji Sasahara, Shigeo Kure, Yukinari Kato
Affiliations
Case Reports

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

Kunihiko Moriya et al. Cancer Sci. 2014 Mar.

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.

Keywords: Anaplastic astrocytoma; IDH2 mutation; Maffucci syndrome; TP53; gliomagenesis.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Clinical features of the patient with Maffucci syndrome. (a) Deformities of the left hand caused by cartilaginous tumors. (b) Plain X-ray image showing multiple cartilaginous tumors in many phalanges and metacarpal bones of the left hand. (c) Hemangiomas at the right lateral foot (arrows). (d) HE staining of cartilaginous tumors of the left hand. (e) T1-weighted MRI imaging of brain tumor. (f) T2-weighted MRI imaging of brain tumor. (g) Sagittal T2-weighted MRI imaging of brain tumor. (h) HE staining of brain tissues.
Figure 2
Figure 2
Mutational analysis of IDH2. (a) Direct DNA sequencing of IDH2 was performed in the enchondroma, hemangioma and astrocytoma tissues. (b) PCR products of IDH2 were subcloned into pCR4-TOPO vectors, and each clone was sequenced to confirm the heterogeneous mutation of IDH2.
See this image and copyright information in PMC

References

    1. Pansuriya TC, Kroon HM, Bovee JVMG. Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol. 2010;3:557–69. - PMC - PubMed
    1. Verdegaal SHM, Bovee JVMG, Pansuriya TC, et al. Incidence, predictive factors, and prognosis of chondrosarcoma in patients with Ollier disease and Maffucci syndrome: an international multicenter study of 161 patients. Oncologist. 2011;16:1771–9. - PMC - PubMed
    1. Schwarz HS, Zimmerman NB, Simon MA, et al. The malignant potential of enchondromatosis. J Bone Joint Surg Am. 1987;69:269–74. - PubMed
    1. Patrick SW, Jay P, David RW, et al. The common feature of leukemia associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting α-ketoglutarate to 2-Hydroxyglutarate. Cancer Cell. 2010;17:225–34. - PMC - PubMed
    1. Gupta R, Webb-Myers R, Flanagan S, et al. Isocitrate dehydrogenase mutations in diffuse gliomas: clinical and aetiological implications. J Clin Pathol. 2011;64:835–44. - PubMed

Publication types