Adult H3K27M-mutant diffuse midline glioma with gliomatosis cerebri growth pattern: Case report and review of the literature
| Autor: | Nicholas Coley, Mihir Gupta, Anudeep Yekula, Hoi Sang U |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Pathology medicine.medical_specialty Gliomatosis cerebri Context (language use) CSF cerebrospinal fluid Article WHO World Health Organization Lesion 03 medical and health sciences 0302 clinical medicine Neurosurgical biopsy Glioma Biopsy medicine Suboccipital craniotomy neoplasms medicine.diagnostic_test business.industry Diffuse midline glioma medicine.disease Hydrocephalus nervous system diseases CT computed tomography Brain tumor H3K27M mutation 030220 oncology & carcinogenesis 030211 gastroenterology & hepatology Surgery Choroid plexus medicine.symptom business human activities MRI magnetic resonance imaging |
| Zdroj: | International Journal of Surgery Case Reports |
| ISSN: | 2210-2612 |
| Popis: | Highlights • H3K27M-mutant diffuse midline gliomas are incurable, WHO grade IV tumors. • These gliomas predominantly present in children, and rarely in adults. • The diverse features of these gliomas in adults remain incompletely characterized. • Early biopsy and detailed molecular characterization are critical. Introduction H3K27M-mutant diffuse midline glioma is a recently classified unique entity predominantly affecting pediatric patients and rarely adults. The clinicopathologic features in adults remain poorly characterized. Presentation of case A 36-year-old man presented with subacute progressive cognitive and visual deterioration, and hydrocephalus requiring ventricular shunting. MRI revealed a diffusely infiltrating lesion with a gliomatosis cerebri growth pattern, multiple foci of contrast enhancement, and diffuse leptomeningeal involvement. Suboccipital craniotomy with exploration of the posterior fossa revealed a subtle capsular lesion infiltrating into the choroid plexus. Although histologically low-grade, the tumor was found to have an H3K27 M mutation establishing the diagnosis. Discussion In spite of diverse clinicopathologic characteristics, H3K27M-mutant diffuse midline gliomas are incurable, WHO grade IV lesions with poor prognosis. We discuss our case in the context of a review of published reports of H3K27-mutant diffuse midline gliomas in adults. Findings late in the disease course may mimic inflammatory or infectious pathologies radiographically, and low-grade infiltrative neoplasms histologically. Conclusion The diverse clinical, radiographic and molecular features of H3K27M-mutant diffuse midline gliomas in adults remain to be completely characterized. A high index of suspicion is required to avoid missing the diagnosis. Early biopsy and detailed molecular characterization are critical for accurate diagnosis and patient counseling. |
| Databáze: | OpenAIRE |
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