Compendium of Cancer Genome Aberrations

HAEM5:Acute myeloid leukaemia with CBFB::MYH11 fusion: Difference between revisions

[checked revision][checked revision]
← Older editNewer edit →
VisualWikitext
No edit summary
Undo revision 14806 by Bailey.Glen (talk)
Tag: Undo
Line 1: Line 1:
{{DISPLAYTITLE:Acute myeloid leukaemia with CBFB::MYH11 fusion}}
{{DISPLAYTITLE:Acute myeloid leukaemia with CBFB::MYH11 fusion}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (5th ed.)]]


{{Under Construction}}
{{Under Construction}}
Line 7: Line 7:
}}</blockquote>
}}</blockquote>


<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column to a table, click nearby within the table and select the > symbol that appears to be given options. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>
<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)|<u>FAQs</u>]] as well as contact your [[Leadership|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>


==Primary Author(s)*==
==Primary Author(s)*==
Line 204: Line 204:
==Characteristic Chromosomal Patterns==
==Characteristic Chromosomal Patterns==


Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis. Do not delete table.'')</span>
Put your text here <span style="color:#0070C0">(''EXAMPLE PATTERNS: hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis'')</span>


{| class="wikitable sortable"
{| class="wikitable sortable"
Line 214: Line 214:
!Notes
!Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE


Co-deletion of 1p and 18q
Co-deletion of 1p and 18q
Line 220: Line 220:
|No
|No
|No
|No
|<span class="blue-text">EXAMPLE:</span>
|EXAMPLE:


See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference).
|}
|}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|The content below was from the previous version of the page. Please incorporate above.}}
<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Patterns|The content below was from the previous version of the page. Please incorporate above.}}
{| class="wikitable sortable"
{| class="wikitable sortable"
!Chromosomal Pattern
!Chromosomal Pattern
Line 278: Line 278:
==Genes and Main Pathways Involved==
==Genes and Main Pathways Involved==


Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table. Do not delete table.'')</span>
Put your text here and fill in the table <span style="color:#0070C0">(''Instructions: Can include references in the table.'')</span>
{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
|-
|-
|<span class="blue-text">EXAMPLE:</span> BRAF and MAP2K1; Activating mutations
|EXAMPLE: BRAF and MAP2K1; Activating mutations
|<span class="blue-text">EXAMPLE:</span> MAPK signaling
|EXAMPLE: MAPK signaling
|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
|EXAMPLE: Increased cell growth and proliferation
|-
|-
|<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations
|EXAMPLE: CDKN2A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
|EXAMPLE: Cell cycle regulation
|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
|EXAMPLE: Unregulated cell division
|-
|-
|<span class="blue-text">EXAMPLE:</span>  KMT2C and ARID1A; Inactivating mutations
|EXAMPLE:  KMT2C and ARID1A; Inactivating mutations
|<span class="blue-text">EXAMPLE:</span>  Histone modification, chromatin remodeling
|EXAMPLE:  Histone modification, chromatin remodeling
|<span class="blue-text">EXAMPLE:</span>  Abnormal gene expression program
|EXAMPLE:  Abnormal gene expression program
|}
|}


<blockquote class='blockedit'>{{Box-round|title=HAEM5 Conversion Notes|The content below was from the previous version of the page. Please incorporate above.}}
<blockquote class='blockedit'>{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the previous version of the page. Please incorporate above.}}


''CBFB'' (core binding factor β) on 16q22 is transcribed from centromere to telomere.  It codes for CBFβ, a subunit of the transcription factor complex core binding factor.  CBFβ by itself does not contain any DNA binding motif or transcriptional activation domain, but forms a dimer with ''CBFa'' (''RUNX1'') which is a transcription factor . ''MYH11'' (smooth muscle myosin heavy-chain gene) on 16p13.1 is transcribed from centromere to telomere, contains a N-term ATPase head responsible for actin binding and mechanical movement, and a C-terminus long repeat of coil-coil domain to facilitate filament aggregates; member of the myosin II family.
''CBFB'' (core binding factor β) on 16q22 is transcribed from centromere to telomere.  It codes for CBFβ, a subunit of the transcription factor complex core binding factor.  CBFβ by itself does not contain any DNA binding motif or transcriptional activation domain, but forms a dimer with ''CBFa'' (''RUNX1'') which is a transcription factor . ''MYH11'' (smooth muscle myosin heavy-chain gene) on 16p13.1 is transcribed from centromere to telomere, contains a N-term ATPase head responsible for actin binding and mechanical movement, and a C-terminus long repeat of coil-coil domain to facilitate filament aggregates; member of the myosin II family.
Retrieved from "https://test.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion"