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

Abstract

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.

A Rare Co-Occurrence of Maffucci Syndrome and Astrocytoma with IDH1 R132H Mutation: A Case Report

“…The biomolecular studies performed in some reported cases of Ollier disease with brain glioma have shown a positive IDH1 mutation in a majority of cases. Corvino S et al described 31 reported cases of Ollier disease with brain glioma, and biomolecular studies were performed only in 10 patients, where 8 patients showed positive IDH1-mutation [ 9 ]. Prokopchuk et al described the non-skeletal neoplasms worldwide and found only 5 cases of astrocytoma associated with Maffucci syndrome [ 15 ].…”

“…Corvino et al reported that the medical literature contains over thirty documented cases of glioma associated with Ollier disease, whereas the number of reported cases of astrocytoma in combination with Maffucci syndrome is significantly fewer, and the majority of those cases were described before the era of molecular genetics [ 9 ].…”

Unraveling the molecular diagnosis of metaphyseal enchondromatosis with D‐2‐hydroxyglutaric aciduria: A 22‐year quest

“…It is associated with somatic point variants in IDH1 (OMIM*147700) including c.394C>A p.(R132S) and c.395G>A p.(R132H) (Vissers et al, 2011). However, the underlying variants in many patients have not been identified (Corvino et al, 2022). Here, we present a 22‐year journey to provide a molecular diagnosis for a patient with MC‐HGA and offer recommendations for molecular diagnosis based on our experience.…”

“…However, the underlying variants in many patients have not been identified (Corvino et al, 2022). Here, we present a 22-year journey to provide a molecular diagnosis for a patient with MC-HGA and offer recommendations for molecular diagnosis based on our experience.…”

Síndrome De Ollier: Uma Revisão Narrativa

“…A síndrome de Ollier é uma doença com a característica de ocorrência de múltiplos encondromas, que nada mais são do que tumores benignos de cartilagem, com característica não hereditária, de aparecimento geralmente na primeira década de vida e de prevalência de 1:100.000, sendo assim considerada rara. A alteração na ossificação encondral por mutações de genes e consequentes problemas em vias de sinalização estão associadas à principal suspeita de causa dessa síndrome (CORVINO, 2022).…”