Changes

'''Genomic Coordinates:'''  

'''Genomic Coordinates:'''  

chr16:15,703,135-15,857,033(GRCh38/hg38)

chr16:15,703,135-15,857,033(GRCh38/hg38)

==Cancer Category/Type==

==Cancer Category/Type==

'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''

'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''

'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_inv(16)(p13.1q22)_or_t(16;16)(p13.1;q22);_CBFB-MYH11 Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''

'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''

inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11

Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22)<ref>Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p132-134.</ref><ref>Post SM, et al., (2015). Biology of adult myelocytic leukemia and myelodysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.</ref>.  Either rearrangement leads to a CBFB-MYH11 fusion gene and may be an early event in the development of Acute Myeloid Leukemia (AML)<ref name=":0">{{Cite journal|last=Ja|first=Pulikkan|last2=Lh|first2=Castilla|date=2018|title=Preleukemia and Leukemia-Initiating Cell Activity in inv(16) Acute Myeloid Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29755956/|language=en|doi=10.3389/fonc.2018.00129|pmc=PMC5932169|pmid=29755956}}</ref>.

==Gene Overview==

==Gene Overview==

The MYH11 gene encodes a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.  The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a protein bearing the first 165 residues from the N terminus of core-binding factor beta and  the C-terminal portion of the smooth muscle myosin heavy chain.  

The ''MYH11'' gene encodes a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP.  The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a protein bearing the first 165 residues from the N terminus of core-binding factor beta (''CBFB'') and  the C-terminal portion of the smooth muscle myosin heavy chain (''MYH11'')<ref name=":0" />. The CBFβ–MYH11 fusion protein exerts a dominant negative function by increased binding to the transcription factor encoded by ''RUNX1'', thereby competing for free Runx1 protein and leading to lowered and altered transcription of myeloid genes<ref name=":0" />.

==Common Alteration Types==

==Common Alteration Types==

inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11

inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11

{| class="wikitable sortable"

{| class="wikitable sortable"

|-

|-

! Copy Number Loss   !! Copy Number Gain   !! LOH   !!   Loss-of-Function Mutation   !! Gain-of-Function Mutation !! Translocation/Fusion  

!Copy Number Loss!!Copy Number Gain!!LOH!!Loss-of-Function Mutation!!Gain-of-Function Mutation!!Translocation/Fusion

|-

|-

| || ||   || || || X

| || || || ||X||X

|}

|}

==Internal Pages==

==Internal Pages==

'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''

'''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]'''

 

'''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''

'''[http://www.ccga.io/index.php/Acute_Myeloid_Leukemia_(AML)_with_inv(16)(p13.1q22)_or_t(16;16)(p13.1;q22);_CBFB-MYH11 Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]'''

'''[http://www.ccga.io/index.php/CBFB CBFB]'''

==External Links==

==External Links==

'''[http://atlasgeneticsoncology.org//Genes/MYH11ID43.html ''MYH11'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information

'''[http://atlasgeneticsoncology.org//Genes/MYH11ID43.html ''MYH11'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information

'''[https://www.ncbi.nlm.nih.gov/gene/4629 MYH11 by NCBI Gene]''' - general gene information and summaries

'''[https://www.ncbi.nlm.nih.gov/gene/4629 MYH11 by NCBI Gene]''' - general gene information and summaries

==References==

==References==

=== EXAMPLE Book ===

==Notes==

1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.

<nowiki>*</nowiki>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.