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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). | | 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). |
− | 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). | + | 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== | | ==Genomic Gain/Loss/LOH== |
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| ===Additional Description:=== | | ===Additional Description:=== |
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− | Mutually exclusive: IDH1 mutation, EGFR amplification | + | '''Mutually exclusive''': IDH1 mutation, EGFR amplification |
| Rare co-occurrence: BRAF V600E | | Rare co-occurrence: BRAF V600E |
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| ==Gene Mutations (SNV/INDEL)== | | ==Gene Mutations (SNV/INDEL)== |
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− | Put your text here or fill in the table
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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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| ! Mutation % !! Mutation | | ! Mutation % !! Mutation |
| |- | | |- |
− | | TP53 || R273H || Tumor Suppressor || LOF || 20% | + | | 100% || H3F3A or HIST1H3B/C K27M mutation – by definition |
| + | |- |
| + | | ~70% || TP53, PPM1D, CHEK2, ATM |
| + | |- |
| + | | ~50% || PDGFRA, PIK3CA, PIK3R1, PTEN |
| + | |- |
| + | | ~20% || ACVR1 (DIPG) |
| |} | | |} |
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− | ===Additional Description:===
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− | *Other Mutations
| + | {| class="wikitable sortable" |
− | Put your text here
| + | |- |
− | *Concomitant Mutations
| + | ! Other Mutations !! Concomitant Mutations |
− | Put your text here
| + | |- |
− | *Secondary Mutations
| + | | || C228T TERT promoter mut |
− | Put your text here
| + | |- |
− | *Mutually Exclusive
| + | | || activating mutation or fusions targeting FGFR1 (1) |
− | Put your text here
| + | |- |
| + | | || NTRK fusion ~4% pontine gliomas |
| + | |} |
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| ==Epigenomics (Methylation)== | | ==Epigenomics (Methylation)== |
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| ==Links== | | ==Links== |
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− | Put your links here
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| ==References== | | ==References== |
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| 8. Khuong-Quang D-A, et al. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathologica 2012;124:439-447. | | 8. Khuong-Quang D-A, et al. K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas. Acta Neuropathologica 2012;124:439-447. |
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| + | [[Category:Brain, Cancer Genes H, Diseases G]] |