Enchondromatosis-associated oligodendroglioma: case report and literature review

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.

Diffuse midline glioma in Ollier disease: A case report and a brief review of the literature

“…(2016) [ 14 ] 55/F Left frontal, temporal and parietal lobes Anaplastic astrocytoma 22 Achiha et al. (2017) [ 15 ] 32/M Left frontal lobe Oligodendroglioma 23 Current case …”

“…Subsequently, three more cases were published by other authors, and three of these lesions were in the frontal lobe [ 13 – 15 ]. The fourth case (our current patient) has a brainstem lesion.…”

Do Glioblastomas with Syndromic Association Have Better Prognosis? A Case of Supratentorial Glioblastoma with Embryonal Tumor Differentiation in a Child with Multiple Enchondromatosis

“…Enchondromatosis including Ollier disease and Maffucci syndrome are caused by somatic mutations of IDH-1 or 2, and therefore can be associated with Central nervous system gliomas. Achiha et al [5] described an adult patient with enchondromatosis and oligodendroglioma (IDH-1 mutant and 1p/19q co-deleted), who was tumor free for more than 18 months. [5] Similarly, Amlashi et al [6] have observed better outcomes for syndromic medulloblastomas, whereas Huttner et al [7] found increased survival in children with GBM and type-1 neurofibromatosis.…”

Brain Gliomas and Ollier Disease: Molecular Findings as Predictive Risk Factors?

“…Ollier disease can occur with other mesenchymal tumors, such as angiosarcomas, osteosarcomas, and thyroid adenomas, or with non-mesenchymal tumors, such as leukemia [ 3 ], ovarian carcinoma [ 4 ], and central nervous system gliomas [ 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 ]. The prevalence of malignancies in OD is about 53% [ 28 ], whereas that of sarcomatous degeneration of enchondromas ranges from 20 to 50% [ 1 , 10 , 29 ].…”

“…The literature review disclosed only 30 cases of gliomas associated with Ollier disease [ 5 , 6 , 7 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 30 ], most of them belonging to the pre-molecular era.…”