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01-01-2018 | Case Report

Enchondromatosis-associated oligodendroglioma: case report and literature review

Authors: Takamune Achiha, Hideyuki Arita, Naoki Kagawa, Tsuyoshi Murase, Jun-ichiro Ikeda, Eiichi Morii, Yonehiro Kanemura, Yasunori Fujimoto, Haruhiko Kishima

Published in: Brain Tumor Pathology | Issue 1/2018

Abstract

Enchondromatosis is a rare skeletal disorder characterized by the development of multiple enchondromas, which can also manifest non-cartilage tumors including gliomas. Here, we describe a genetic analysis of a low-grade glioma that developed in an enchondromatosis case. A 32-year-old man with a long history of enchondromatosis developed a left frontal tumor. The histopathological findings of his surgical specimen revealed characteristics of a low-grade glioma with an IDH1 c.395G>A (R132H) mutation and 1p/19q codeletion, which led to a definitive diagnosis of oligodendroglioma. A common point mutation in IDH1 (R132H) was detected in the patient’s enchondroma and glioma-matched pair specimens. To the best of our knowledge, this is the first case of molecularly confirmed oligodendroglioma associated with enchondromatosis. Furthermore, identification of a common IDH1 mutation in enchondroma and oligodendroglioma-matched pair specimens supports the hypothesis that IDH1/2 mosaicism initiates tumorigenesis.

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Title: Enchondromatosis-associated oligodendroglioma: case report and literature review
Authors: Takamune Achiha
Hideyuki Arita
Naoki Kagawa
Tsuyoshi Murase
Jun-ichiro Ikeda
Eiichi Morii
Yonehiro Kanemura
Yasunori Fujimoto
Haruhiko Kishima
Publication date: 01-01-2018
Publisher: Springer Singapore
Published in: Brain Tumor Pathology / Issue 1/2018
Print ISSN: 1433-7398
Electronic ISSN: 1861-387X
DOI: https://doi.org/10.1007/s10014-017-0303-y

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Enchondromatosis-associated oligodendroglioma: case report and literature review

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