An adult case of diffuse midline glioma with H3 K27M mutation

• Published in: Neuropathology Vol. 40; no. 6; pp. 627 - 631
• Main Authors: Tu, Jin‐hua, Piao, Yue‐shan, Lu, De‐hong, Wang, Lei‐ming, Liu, Li, Bai, Dong‐yu, Han, Hai‐Wei, Lin, Yi‐kai, Zhong, Shan
• Format: Journal Article
• Language: English
• Published: Melbourne John Wiley & Sons Australia, Ltd 01.12.2020; Wiley Subscription Services, Inc
• Subjects: adult; cartilaginous metaplasia; Case reports; Cell proliferation; Central nervous system; Chondrocytes; diffuse midline glioma; Glial cells; Glial fibrillary acidic protein; Glioma; H3 K27M mutant; Histones; Lysine; Magnetic resonance imaging; Medulla oblongata; Metaplasia; Methionine; Microvasculature; Mutants; Mutation; Olig2 protein; Progenitor cells; Proteins; Stem cells; Ventricle; Ventricles (cerebral); cartilaginous metaplasia; diffuse midline glioma; H3 K27M mutant; adult; medulla oblongata
• ISSN: 0919-6544; 1440-1789
• DOI: 10.1111/neup.12689

Cartilaginous metaplasia is rare in primary central nervous system (CNS) neoplasms and has not been described in the histone 3 (H3) gene (H3) with a substitution of lysine to methionine (H3 K27M mutant) diffuse midline glioma before. Here, we report a case of H3 K27M mutant diffuse midline glioma with cartilaginous metaplasia in a 56‐year‐old woman. Magnetic resonance imaging (MRI) revealed a ring‐enhanced lesion located in the medulla oblongata and extended superiorly into the fourth ventricle. The tumor was macroscopically completely resected. Histologically, the tumor was composed of a gliomatous component and a well‐differentiated cartilaginous component. Microvascular proliferation and necrosis were noted. According to immunohistochemical staining, glial cells were diffusely and strongly positive for glial fibrillary acidic protein (GFAP), oligodendrocyte lineage transcription factor 2 (Olig2), H3 K27M, and S‐100 protein but negative for H3K27me3. The chondrocytes also were positive for GFAP and S‐100 protein. The H3 K27M mutation was confirmed by sequencing in both the gliomatous and cartilaginous components, suggesting a common origin from the same progenitor cells. Based on these findings, the tumor was diagnosed as a diffuse midline glioma with H3 K27M mutation with widespread cartilaginous metaplasia, corresponding to WHO grade IV. This is an extremely rare H3 K27M mutant diffuse midline glioma with cartilaginous metaplasia, and reporting this unusual case adds to the understanding of this tumor type.