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Diffuse midline glioma, H3 K27M–mutant (view source)
Revision as of 17:18, 13 April 2017
, 17:18, 13 April 2017no edit summary
==Primary Author(s)==
Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
__TOC__
==Cancer Category/Type==
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==Cancer Sub-Classification / Subtype==
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==Definition / Description of Disease==
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==Synonyms / Terminology==
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==Epidemiology / Prevalence==
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==Clinical Features==
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==Sites of Involvement==
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==Morphologic Features==
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==Immunophenotype==
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{| class="wikitable sortable"
|-
! Finding !! Marker
|-
|Positive (universal) || CD1
|-
|Positive (subset) || CD2
|-
|Negative (universal) || CD3
|-
|Negative (subset) || CD4
|}
===Additional Description:===
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==Chromosomal Rearrangements (Gene Fusions)==
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{| class="wikitable sortable"
|-
! Chromosomal Rearrangement !! Genes in Fusion (5’ or 3’ Segments) !! Pathogenic Derivative !! Prevalence
|-
|t(9;22) || BCR-ABL1 || der(22) || 5%
|-
|t(8;21) || RUNX1-RUNXT1 || der(8) || 5%
|}
===Additional Description:===
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==Characteristic Chromosomal Aberrations / Patterns==
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==Genomic Gain/Loss/LOH==
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{| class="wikitable sortable"
|-
! Chromosome Number !! Gain/Loss/Amp/LOH !! Region
|-
| 8 || Gain || chr8:0-1000000
|-
|7 || Loss || chr7:0-1000000
|}
===Additional Description:===
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==Gene Mutations (SNV/INDEL)==
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{| class="wikitable sortable"
|-
! Gene !! Mutation !! Oncogene/Tumor Suppressor/Other !! Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) !! Prevalence (COSMIC/TCGA/Other)
|-
| TP53 || R273H || Tumor Suppressor || LOF || 20%
|}
===Additional Description:===
*Other Mutations
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*Concomitant Mutations
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*Secondary Mutations
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*Mutually Exclusive
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==Epigenomics (Methylation)==
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==Genes and Main Pathways Involved==
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==Diagnostic Testing Methods==
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==Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications)==
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==Familial Forms==
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==Other Information==
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==Links==
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==References==
=== Reference Example, BOOK ===
#Arber DA, Brunning RD, Le Beau MM, Falini B, Vardiman JW, Porwit A, Thiele J, Bloomfield CD (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4thedition.Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
=== Reference Example, Journal Article ===
#Li Y, Mehta PK, Nizetic D, Kaneko Y, Chan GCF, Chan LC, Squire J, Scherer SW and Hitzler JK (2001). Fusion of two novel genes, RBM15 and MKL1, in the t(1;22)(p13;q13) of acute megakaryoblastic leukemia. Nat Genet 28:220-221, PMID 11431691.
Contributors
Contributors
Linda D Cooley, MD, MBA
Linda D Cooley, MD, MBA