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| ==Primary Author(s)== | | ==Primary Author(s)== |
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− | Linda D Cooley | + | Linda D Cooley, MD, MBA |
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| __TOC__ | | __TOC__ |
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| Histopathology – astrocytic morphology – can range from diffuse low-grade glioma to high grade glioma. | | Histopathology – astrocytic morphology – can range from diffuse low-grade glioma to high grade glioma. |
| H3 K27M-mutant gliomas can display a broad spectrum of histological features, including giant, epithelioid, and rhabdoid cells; primitive neuroectodermal tumor–like foci; ependymal-like areas; sarcomatous transformation, as well as features that may wrongly suggest circumscribed gliomas such as neuropil-like islands, pilomyxoid features, ganglionic differentiation, and pleomorphic xanthoastrocytoma-like areas. | | H3 K27M-mutant gliomas can display a broad spectrum of histological features, including giant, epithelioid, and rhabdoid cells; primitive neuroectodermal tumor–like foci; ependymal-like areas; sarcomatous transformation, as well as features that may wrongly suggest circumscribed gliomas such as neuropil-like islands, pilomyxoid features, ganglionic differentiation, and pleomorphic xanthoastrocytoma-like areas. |
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| ==Immunophenotype== | | ==Immunophenotype== |
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| |Negative (subset) || ATRX | | |Negative (subset) || ATRX |
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− | ===Additional Description:===
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− | ==Chromosomal Rearrangements (Gene Fusions)==
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− | {| class="wikitable sortable"
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− | ! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
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− | |t(9;22) || BCR-ABL1 || der(22) || 5%
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− | |t(8;21) || RUNX1-RUNXT1 || der(8) || 5%
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− | ===Additional Description:===
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| ==Characteristic Chromosomal Aberrations / Patterns== | | ==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). | | 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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| {| class="wikitable sortable" | | {| class="wikitable sortable" |
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− | ! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other) | + | ! Mutation % !! Mutation |
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| | TP53 || R273H || Tumor Suppressor || LOF || 20% | | | TP53 || R273H || Tumor Suppressor || LOF || 20% |