|
|
| Line 1: |
Line 1: |
| {{DISPLAYTITLE:Diffuse midline glioma, H3 K27-altered}} | | {{DISPLAYTITLE:Diffuse midline glioma, H3 K27-altered}} |
| | |
| [[CNS5:Table_of_Contents|Central Nervous System Tumours(WHO Classification, 5th ed.)]] | | [[CNS5:Table_of_Contents|Central Nervous System Tumours(WHO Classification, 5th ed.)]] |
|
| |
|
| Line 10: |
Line 11: |
|
| |
|
| Linda Cooley, MD, MBA, Children's Mercy Hospital | | Linda Cooley, MD, MBA, Children's Mercy Hospital |
|
| |
|
| |
|
|
| |
|
| Line 151: |
Line 151: |
| | | | | |
| |} | | |} |
|
| |
|
| |
|
| |
|
| |
| Put your text here and fill in the table
| |
|
| |
| {| class="wikitable sortable"
| |
| |-
| |
| !Chromosomal Rearrangement!!Genes in Fusion (5’ or 3’ Segments)!!Pathogenic Derivative!!Prevalence
| |
| !Diagnostic Significance (Yes, No or Unknown)
| |
| !Prognostic Significance (Yes, No or Unknown)
| |
| !Therapeutic Significance (Yes, No or Unknown)
| |
| !Notes
| |
| |-
| |
| |EXAMPLE t(9;22)(q34;q11.2)||EXAMPLE 3'ABL1 / 5'BCR||EXAMPLE der(22)||EXAMPLE 20% (COSMIC)
| |
| EXAMPLE 30% (add reference)
| |
| |Yes
| |
| |No
| |
| |Yes
| |
| |EXAMPLE
| |
|
| |
| The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference).
| |
| |}
| |
|
| |
|
| |
|
| |
|
| ==Individual Region Genomic Gain/Loss/LOH== | | ==Individual Region Genomic Gain/Loss/LOH== |
| Line 258: |
Line 233: |
| |- | | |- |
| | ||gains||1q, 2 (1) | | | ||gains||1q, 2 (1) |
| |}
| |
| {| class="wikitable sortable"
| |
| |-
| |
| !Chr #!!Gain / Loss / Amp / LOH!!Minimal Region Genomic Coordinates [Genome Build]!!Minimal Region Cytoband
| |
| !Diagnostic Significance (Yes, No or Unknown)
| |
| !Prognostic Significance (Yes, No or Unknown)
| |
| !Therapeutic Significance (Yes, No or Unknown)
| |
| !Notes
| |
| |-
| |
| |EXAMPLE
| |
|
| |
| 7
| |
| |EXAMPLE Loss
| |
| |EXAMPLE
| |
|
| |
| chr7:1- 159,335,973 [hg38]
| |
| |EXAMPLE
| |
|
| |
| chr7
| |
| |Yes
| |
| |Yes
| |
| |No
| |
| |EXAMPLE
| |
|
| |
| Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference). Monosomy 7/7q deletion is associated with a poor prognosis in AML (add reference).
| |
| |-
| |
| |EXAMPLE
| |
|
| |
| 8
| |
| |EXAMPLE Gain
| |
| |EXAMPLE
| |
|
| |
| chr8:1-145,138,636 [hg38]
| |
| |EXAMPLE
| |
|
| |
| chr8
| |
| |No
| |
| |No
| |
| |No
| |
| |EXAMPLE
| |
|
| |
| Common recurrent secondary finding for t(8;21) (add reference).
| |
| |} | | |} |
|
| |
|
| Line 338: |
Line 271: |
| | | | | |
| |} | | |} |
|
| |
|
| |
|
| |
|
| |
| Put your text here
| |
|
| |
| {| class="wikitable sortable"
| |
| |-
| |
| !Chromosomal Pattern
| |
| !Diagnostic Significance (Yes, No or Unknown)
| |
| !Prognostic Significance (Yes, No or Unknown)
| |
| !Therapeutic Significance (Yes, No or Unknown)
| |
| !Notes
| |
| |-
| |
| |EXAMPLE
| |
|
| |
| Co-deletion of 1p and 18q
| |
| |Yes
| |
| |No
| |
| |No
| |
| |EXAMPLE:
| |
|
| |
| See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
| |
| |}
| |
|
| |
|
| |
|
| ==Gene Mutations (SNV/INDEL)== | | ==Gene Mutations (SNV/INDEL)== |
| Line 466: |
Line 374: |
| Prior Author(s): | | Prior Author(s): |
| <nowiki>*</nowiki>''Citation of this Page'': “Diffuse midline glioma, H3 K27-altered”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Diffuse midline glioma, H3 K27-altered</nowiki>. | | <nowiki>*</nowiki>''Citation of this Page'': “Diffuse midline glioma, H3 K27-altered”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/CNS5:Diffuse midline glioma, H3 K27-altered</nowiki>. |
| [[Category:CNS5]][[Category:DISEASE]][[Category:Diseases D]] | | [[Category:CNS5]] |
| | [[Category:DISEASE]] |
| | [[Category:Diseases D]] |