| Term Name: | diffuse midline glioma, H3 K27-altered |
|---|---|
| Synonyms: | diffuse intrinsic pontine glioma, diffuse midline glioma, H3 K27M-mutant |
| Definition: | A histone mutated tumor that is characterized by loss of histone H3 p.K28me3 (K27me3) methylation and located throughout the midline structures of the central nervous system. Methylation loss may be due to p.K28M (K27M) mutation in one of the histone H3 isoforms (H3.1, H3.2, or H3.3), overexpression of EZHIP, or mutation of the EGFR gene. |
| Ontology: | Human Disease [DOID:0080684] ( DOID:0080684 ) |