Diffuse midline glioma H3K27M mutation in adult: A case report

INTRODUCTION: Diffuse midline glioma with H3 K27M mutation is a new tumor entity from 2016 which is highly aggressive and classified as a WHO Grade IV tumor regardless of histopathologic features. DMG is an aggressive tumor with a poor prognosis, predominating in children and rarely in adults. The clinicopathologic features in adults remain poorly characterized. CASE PRESENTATION: Herein we report a case of a 28-year-old female with diffuse midline glioma with pathology confirmation of histone H3 K27M mutation presenting predominately with left upper and lower limb weakness for 3 weeks followed by an event of loss of consciousness and suspicious mass in MRI Brain/CT Brain. It was confirmed by immunoreactive H3K27M with a score of 4+ in neoplastic cells, which revealed Diffuse midline glioma, H3K27M mutant. CLINICAL DISCUSSION: Diffuse midline glioma with histone H3–K27M mutation recently classified CNS tumor with grade IV, including both morphologic and molecular features for diagnosis and associated with poor prognosis. CONCLUSION: We report a case of adult diffuse midline glioma with H3K27M. The prognosis of diffuse midline glioma is poor and dependents solely on H3K27M irrespective of its grade and characteristics. A comprehensive study of diffuse midline glioma on clinical, radiographic, and demographic features in adult is needed.