HAEM5:Acute myeloid leukaemia with CBFB::MYH11 fusion: Difference between revisions
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<blockquote class='blockedit'>{{Box-round|title=v4:Characteristic Chromosomal Patterns|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.}}</blockquote> | ||
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!Chromosomal Pattern | !Chromosomal Pattern | ||
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<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
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==Gene Mutations (SNV / INDEL)== | ==Gene Mutations (SNV / INDEL)== | ||
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<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.}} | <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.}}</blockquote> | ||
''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. | ||
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Protein: A fusion protein with the first 165 (or 133 in a few cases) amino acids of the N-terminus of CBFβ, minus only 17 or 22 amino acids, fused to the tail of the MYH11 C-terminus with its multimerization domain. The breakpoint in ''MYH11'' is variable. The fusion protein retains the ability to dimerize with ''RUNX1'' in the heterodimeric core binding factor. The core binding factor is a transcription factor that plays an essential role in regulation of normal hematopoiesis. It is composed of a DNA-binding ''CBFα'' (''RUNX1'') chain and a non-DNA-binding CBFβ chain. It is likely oncogenic due to altered transcriptional regulation of normal ''RUNX1'' target genes. Animal studies suggest that the fusion proteins alone are not able to induce leukemia and that additional genetic alterations are required for leukemogenic transformation<ref>{{Cite journal|last=Downing|first=James R.|date=2003-02|title=The core-binding factor leukemias: lessons learned from murine models|url=https://pubmed.ncbi.nlm.nih.gov/12573435|journal=Current Opinion in Genetics & Development|volume=13|issue=1|pages=48–54|doi=10.1016/s0959-437x(02)00018-7|issn=0959-437X|pmid=12573435}}</ref>. | Protein: A fusion protein with the first 165 (or 133 in a few cases) amino acids of the N-terminus of CBFβ, minus only 17 or 22 amino acids, fused to the tail of the MYH11 C-terminus with its multimerization domain. The breakpoint in ''MYH11'' is variable. The fusion protein retains the ability to dimerize with ''RUNX1'' in the heterodimeric core binding factor. The core binding factor is a transcription factor that plays an essential role in regulation of normal hematopoiesis. It is composed of a DNA-binding ''CBFα'' (''RUNX1'') chain and a non-DNA-binding CBFβ chain. It is likely oncogenic due to altered transcriptional regulation of normal ''RUNX1'' target genes. Animal studies suggest that the fusion proteins alone are not able to induce leukemia and that additional genetic alterations are required for leukemogenic transformation<ref>{{Cite journal|last=Downing|first=James R.|date=2003-02|title=The core-binding factor leukemias: lessons learned from murine models|url=https://pubmed.ncbi.nlm.nih.gov/12573435|journal=Current Opinion in Genetics & Development|volume=13|issue=1|pages=48–54|doi=10.1016/s0959-437x(02)00018-7|issn=0959-437X|pmid=12573435}}</ref>. | ||
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<center><span style="color:Maroon">'''End of V4 Section'''</span> | |||
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==Genetic Diagnostic Testing Methods== | ==Genetic Diagnostic Testing Methods== | ||