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31-year-old man with headache. Neuroimaging shows multiple masses that have a diffusely infiltrative appearance with variable contrast enhancement. Past medical history includes Ollier disease.
Glioblastoma is the most common primary malignant brain tumour in adults. In younger patients or in those with a history of a lower-grade glioma, glioblastomas typically carry a mutation in isocitrate dehydrogenase (IDH). Microscopically, glioblastoma is characterized by infiltrative growth of neoplastic cells resembling astrocytes with elongated nuclei and eosinophilic cytoplasmic processes. However, many morphologic variants exist. By definition, mitoses and necrosis and / or microvascular proliferation are present. Immunohistochemistry can demonstrate the presence of an IDH mutation (IDH1 R132H). Loss of ATRX expression is also characteristic of IDH-mutant astrocytomas (see Related Content).
In this case, the patient has a history of Ollier disease, a sporadic disorder characterized by multiple enchondromas. Interestingly, Ollier disease is caused by post-zygotic somatic mutations in IDH, identical to the mutations found in IDH-mutant gliomas. The risk of developing gliomas is increased in Ollier disease.
See Related Content for references:
1) Bonnet, C., et al. Acta Neuropathol Commun. 2016 Mar 31;4:31