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

Abstract

Diffuse midline gliomas, H3 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.

Identification of miR-21-5p/TET1-negative regulation pair in the aggressiveness of glioma cells

“…Glioma is an aggressive brain cancer, characterized by aggressive proliferation, invasion, and dismal prognosis [3,8]. Although great advances have been made in therapeutic strategy, the clinical prognosis of patients with glioma remains dismal.…”

Radiogenomics of adult intracranial gliomas after the 2021 World Health Organisation classification: a review of changes, challenges and opportunities

“…However, paediatric-type diffuse gliomas may also occur in adults, especially young adults. For example, many cases of “diffuse midline glioma, H3 K27-altered” have been reported in young adults ( 15 , 16 ), and cases have even been reported in patients over 60 years of age ( 17 , 18 ). Paediatric-type diffuse gliomas are IDH wt by definition ( 2 ), thus some of the entities are a consideration in adult patients with an IDH wt glioma, in particular H3 K27-altered and H3 G34-mutant gliomas (which demonstrate different changes in the H3 histone).…”

Imaging features associated with H3 K27-altered and H3 G34-mutant gliomas: a narrative systematic review

“…Nevertheless, these tumors can occasionally be larger. For example, out of 66 H3 K27Mmutant adult gliomas reported by Qiu et al, eight demonstrated cerebral hemispheric infiltration together with thalamic and/or brainstem involvement [22], and cases of extensive H3 K27M-mutant gliomas in older patients have been reported [33,36].…”