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

Abstract

Simple SummaryAs reported in the recent Classification of the Tumors of the Central Nervous System (2021), the role of molecular markers in CNS tumor diagnosis and classification, and accordingly in the decision making of the therapeutic process, has become even more decisive. In this scenario, we performed an accurate literature review of patients with Ollier disease harboring brain gliomas, disclosing only thirty cases; our own case was also included. Most of the reported cases belong to the pre-molecular era. We found a strong relationship between an IDH mutation in the enchondroma of patients with Ollier disease and the occurrence of brain gliomas; this finding may allow an early diagnosis of brain glioma in these patients, detecting the tumor when still small and silent, thus allowing the neurosurgeon, oncologist, and radiotherapist to plan the best management. Background: Ollier disease (OD) is a rare nonhereditary type of dyschondroplasia characterized by multiple enchondromas, with typical onset in the first decade of life. Surgery is the only curative treatment for primary disease and its complications. Patients with OD are at risk of malignant transformation of enchondromas and of occurrence of other neoplasms. Methods: A wide literature review disclosed thirty cases of glioma associated with OD, most of them belonging to the pre-molecular era. Our own case was also included. Demographic, clinical, pathologic, molecular, management, and outcome data were analyzed and compared to those of sporadic gliomas. Results: Gliomas associated with OD more frequently occur at younger age, present higher rates of multicentric lesions (49%), brainstem localizations (29%), and significantly lower rates of glioblastomas (7%) histotype. The IDH1 R132H mutation was detected in 80% of gliomas of OD patients and simultaneously in enchondromas and gliomas in 100% of cases. Conclusions: The molecular data suggest a higher risk of occurrence of glioma in patients with enchondromas harboring the IDH1 R132H mutation than those with the IDH1 R132C mutation. Thus, we suggest considering the IDH1 R132H mutation in enchondromas of patients with OD as a predictive risk factor of occurrence of glioma.