A longitudinally extensive H3 K27M-mutant diffuse midline glioma in an elderly patient clinically mimicking central nervous system inflammation: a case report

Babarczy, Kristóf and Reisz, Zita and Szabó, Elza and Rajda, Cecília and Vécsei, László and Bódi, István and Klivényi, Péter and Hortobágyi, Tibor and Szalárdy, Levente (2020) A longitudinally extensive H3 K27M-mutant diffuse midline glioma in an elderly patient clinically mimicking central nervous system inflammation: a case report. FOLIA NEUROPATHOLOGICA, 58 (4). pp. 377-385. ISSN 1641-4640 (print); 1509-572X (online)

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Abstract

Diffuse midline gliomas, H3 K27M-mutant, World Health Organization (WHO) grade IV represent a distinct glioma entity with a predominantly paediatric presentation and remarkably poor prognosis. This report presents a case of a 73-year-old woman with a diffuse midline glioma, H3 K27M-mutant, WHO grade IV with a remarkable longitudinal extension, extending from the cervical myelon to the basal ganglia. On imaging, the lesion was predominantly suggestive of inflammatory oedema, and it was clinically associated with progressive hemi- and later tetraparesis with severe autonomic and bulbar symptoms. Laboratory examinations suggested a generalized inflammatory process; however, neither infectious nor autoimmune aetiology could be confirmed. Biopsy was deemed unfeasible given the critical localization. Presuming a seronegative autoimmune encephalomyelitis, high-dose corticosteroid therapy and plasma exchanges were conducted, resulting in a modest but transient relief. The patient passed away two months after hospitalization. Neuropathological examination of the lesion revealed a high-grade diffuse glioma with H3 K27M mutation (grade IV). Although originally considered as a paediatric entity, our case confirms reports from recent years that diffuse midline gliomas, H3 K27M-mutant, WHO grade IV can occur in adults, even among the elderly, and can mimic inflammatory alterations, posing diagnostic difficulty. Our case is one of the oldest patients reported with this pathology, the oldest with an extensive diffusely infiltrating growth pattern, and with the most extensive lesion reported in adulthood.

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