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

: 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

Gliosarcoma with direct involvement of the oculomotor nerve: Case report and literature review

: Gliosarcoma is a rare malignant brain tumor, characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. We first report a case of temporo-mesial gliosarcoma, extended to the crural and ambient cisterns, with direct involvement of the ipsilateral third cranial nerve and encasement of anterior choroidal, posterior communicant and posterior cerebral arteries, presenting without symptoms of peripheral neuropathy. A 61-year-old woman with 1-month history of intense bilateral frontal-temporal headache resistant to pharmacological therapy and paresis of the left lower midface underwent surgical resection, through pterional trans-sylvian approach, of a right temporo-mesial gliosarcoma which directly involved the ipsilateral oculomotor nerve. Reported cases of gliomas with direct involvement of a cranial nerve, from the third to the twelfth, are very rare, whit no cases of gliosarcoma described. Because of its rarity, sometimes this entity is not considered as diagnostic hypothesis and is misdiagnosed, both during preoperative diagnostic evaluation and during the surgery. Gliosarcoma is a strong challenge for neurosurgeons and neurooncologists because of low incidence, poor prognosis and limited reported cases on literature. This case shows unique features for localization, pattern of growth and clinical presentation

Spinal cervical extradural hemangioblastoma

: Spinal cervical extradural and intra-extradural hemangioblastomas are exceptional, with only nine reported cases. This study reviews the diagnostic and surgical problems of this rare entity. Two female patients, aged 80 years and 25 years, respectively, one with Von Hippel-Lindau disease (VHLD), experienced brachial pain and weakness. On magnetic resonance imaging, a dumbbell intra-extraspinal hemangioblastoma was evidenced. The surgical resection through posterior laminectomy resulted in clinical remission of brachial pain and weakness. The magnetic resonance aspect of a dumbbell lesion suggests a neurogenic tumor; the correct preoperative diagnosis is possible in individuals with VHLD. The surgical problems include high tumor vascularity, vertebral artery control, and nerve root preservation. However, the surgical excision results in clinical remission

Atypical Teratoid Rhabdoid Tumor of the Nervous System in Adults: Location-Related Features and Outcome

Background: Atypical Teratoid/Rhabdoid Tumor (AT/RT) of the nervous system is a rare and highly malignant neoplasm, mainly affecting children, first recognized as a pathological entity in 1996 and added to the WHO Classification of the Tumors of the Central Nervous System in 2000. AT/RT is even more rare among adults and is associated to worse prognosis. The aim of the present study was to analyze the different tumor features according to the location in adults. Methods: A comprehensive and detailed literature review of Atypical Teratoid/Rhabdoid Tumours in adults was made. The demographic, management and outcome data associated to tumor location were analysed and compared; histopathological and molecular features were also discussed. Furthermore, we added our personal case with brain hemispheric localization and reporting a progression-free survival of 103 months after gross total resection and adjuvant radiotherapy and showing a peculiar histopathological pattern. Results: Female sex is mainly affected by AT/RT on median localizations, both intracranial and spinal, and by all sellar region cases. Gross total resection is mainly achieved among lateral than median localizations. Combined radio- and chemotherapy is the most adopted adjuvant treatment in all tumor localizations and is related to better outcome. Postoperative death is reported only among sellar region localizations, while brain hemispheric cases show the best overall survival. Conclusions: AT/RT show different and peculiar features according to their location which significantly affect the outcome; their exact knowledge helps the neurosurgeon in the planning of the best strategy of treatment