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Diffuse midline glioma, H3 K27M–mutant (view source)

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==Characteristic Chromosomal Aberrations / Patterns==

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H3-K27M mutation defines the entity. K27M mutation occurs in either of 2 genes, H3F3A or HIST1H3B, which encode the histone H3 variants, H3.3 and H3.1, respectively (3).

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Cooperating genetic alterations include: TP53 and ATRX mutations. A subset of K27M+ DIPGs have ACVR1 missense mutations (encodes the activin A receptor type-1 transmembrane protein, that lead to activation of the BMP-TGF signaling pathway). Other alterations found in K27M+ DIPGs include PIK3CA mutation, PDGFRA mutation or amplification, PPM1D mutation, and amplification of cell cycle genes including CCND1, CDK4 and CDK6 (3).

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==Genomic Gain/Loss/LOH==

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