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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Acknowledgements
This work was supported by JSPS KAKENHI Grant Number 16K20006 (H.A.). The authors thank Ms. Ema Yoshioka, Mr. Daisuke Kanematsu, and Ms. Tomoko Shofuda (Institute for Clinical Research, Osaka National Hospital) for generous assistance in genetic tests.
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Achiha, T., Arita, H., Kagawa, N. et al. Enchondromatosis-associated oligodendroglioma: case report and literature review. Brain Tumor Pathol 35, 36–40 (2018). https://doi.org/10.1007/s10014-017-0303-y
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DOI: https://doi.org/10.1007/s10014-017-0303-y