Compendium of Cancer Genome Aberrations

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

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{{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 (WHO Classification, 5th ed.)]]


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<br>
<br>
Beth Israel Deaconess Medical Center, Boston, MA
Beth Israel Deaconess Medical Center, Boston, MA
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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|}
|}


==WHO Essential and Desirable Genetic Diagnostic Criteria==
<span style="color:#0070C0">(''Instructions: The table will have the diagnostic criteria from the WHO book <u>autocompleted</u>; remove any <u>non</u>-genetics related criteria. If applicable, add text about other classification'' ''systems that define this entity and specify how the genetics-related criteria differ.'')</span>
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|
|-
|WHO Desirable Criteria (Genetics)*
|
|-
|Other Classification
|
|}
<nowiki>*</nowiki>Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the [https://tumourclassification.iarc.who.int/home <u>WHO Classification of Tumours</u>].
==Related Terminology==
==Related Terminology==
<span style="color:#0070C0">(''Instructions: The table will have the related terminology from the WHO <u>autocompleted</u>.)''</span>
 
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|
|Acute myeloid leukaemia with CBFB rearrangement; acute myeloid leukaemia with t(16;16)(p13.1;q22); acute myeloid leukaemia with inv(16)(p13.1q22)
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


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|
|
|
|
|}[[File:t(16;16)(p13.1;q22).png|t(16;16)(p13.1;q22)|frame|center]] [[File:inv(16)(p13.1q22).png|inv(16)(p13.1q22)|frame|center]] [[File:Inv(16)(p13.1q22) karyogram and insert (8-7-18).png|inv(16)(p13.1q22). Courtesy of Karen Kundinger, Comprehensive Genetic Services, Milwaukee, WI|frame|center]]
|}
Put content below into table above...
 
*


{| class="wikitable sortable"
{| class="wikitable sortable"
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*Standard induction 7 + 3 chemotherapy regimen of cytarabine for 7 days plus an anthracycline or anthracenedione for 3 days.  In first complete remission patients younger than 60 years without a KIT mutation are treated with at least three courses of high dose cytarabine.  If a ''KIT'' mutation is present, bone marrow transplant is performed in first complete remission<ref>{{Cite journal|last=Yoon|first=J.-H.|last2=Kim|first2=H.-J.|last3=Kim|first3=J.-W.|last4=Jeon|first4=Y.-W.|last5=Shin|first5=S.-H.|last6=Lee|first6=S.-E.|last7=Cho|first7=B.-S.|last8=Eom|first8=K.-S.|last9=Kim|first9=Y.-J.|date=2014-12|title=Identification of molecular and cytogenetic risk factors for unfavorable core-binding factor-positive adult AML with post-remission treatment outcome analysis including transplantation|url=https://pubmed.ncbi.nlm.nih.gov/25111512|journal=Bone Marrow Transplantation|volume=49|issue=12|pages=1466–1474|doi=10.1038/bmt.2014.180|issn=1476-5365|pmid=25111512}}</ref>. Other therapies under investigation include gemtuzumab ozogamicin, histone deacetylase inhibitors, DNA methyl transferase inhibitors, proteasome inhibition and tyrosine kinase inhibitors<ref name=":1" />.
*Standard induction 7 + 3 chemotherapy regimen of cytarabine for 7 days plus an anthracycline or anthracenedione for 3 days.  In first complete remission patients younger than 60 years without a KIT mutation are treated with at least three courses of high dose cytarabine.  If a ''KIT'' mutation is present, bone marrow transplant is performed in first complete remission<ref>{{Cite journal|last=Yoon|first=J.-H.|last2=Kim|first2=H.-J.|last3=Kim|first3=J.-W.|last4=Jeon|first4=Y.-W.|last5=Shin|first5=S.-H.|last6=Lee|first6=S.-E.|last7=Cho|first7=B.-S.|last8=Eom|first8=K.-S.|last9=Kim|first9=Y.-J.|date=2014-12|title=Identification of molecular and cytogenetic risk factors for unfavorable core-binding factor-positive adult AML with post-remission treatment outcome analysis including transplantation|url=https://pubmed.ncbi.nlm.nih.gov/25111512|journal=Bone Marrow Transplantation|volume=49|issue=12|pages=1466–1474|doi=10.1038/bmt.2014.180|issn=1476-5365|pmid=25111512}}</ref>. Other therapies under investigation include gemtuzumab ozogamicin, histone deacetylase inhibitors, DNA methyl transferase inhibitors, proteasome inhibition and tyrosine kinase inhibitors<ref name=":1" />.


|}
|}[[File:t(16;16)(p13.1;q22).png|t(16;16)(p13.1;q22)|frame|alt=|left]] [[File:inv(16)(p13.1q22).png|inv(16)(p13.1q22)|frame|alt=|left]] [[File:Inv(16)(p13.1q22) karyogram and insert (8-7-18).png|inv(16)(p13.1q22). Courtesy of Karen Kundinger, Comprehensive Genetic Services, Milwaukee, WI|frame|alt=|none]]
 
 
inv(16)(p13.1q22), a pericentric inversion of chromosome 16, and the less common t(16;16)(p13.1;q22), a translocation involving the short arm of one chromosome 16 and the long arm of the other chromosome 16, define a distinctive cytogenetic subtype of acute myeloid leukemia.  Both of these chromosome rearrangements result in the CBFB-MYH11 gene fusion.
 
*


==Individual Region Genomic Gain/Loss/LOH==
==Individual Region Genomic Gain/Loss/LOH==
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Chr #!!'''Gain, Loss, Amp, LOH'''!!'''Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]'''!!'''Relevant Gene(s)'''
!Chr #!!Gain, Loss, Amp, LOH!!Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size]!!Relevant Gene(s)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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!Chromosomal Pattern
!Chromosomal Pattern
!Molecular Pathogenesis
!Molecular Pathogenesis
!'''Prevalence -'''
!Prevalence -  
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T'''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>
|<span class="blue-text">EXAMPLE:</span>
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene!!'''Genetic Alteration'''!!'''Tumor Suppressor Gene, Oncogene, Other'''!!'''Prevalence -'''
!Gene!!Genetic Alteration!!Tumor Suppressor Gene, Oncogene, Other!!Prevalence -
'''Common >20%, Recurrent 5-20% or Rare <5% (Disease)'''
Common >20%, Recurrent 5-20% or Rare <5% (Disease)
!'''Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  '''
!Diagnostic, Prognostic, and Therapeutic Significance - D, P, T  
!'''Established Clinical Significance Per Guidelines - Yes or No (Source)'''
!Established Clinical Significance Per Guidelines - Yes or No (Source)
!'''Clinical Relevance Details/Other Notes'''
!Clinical Relevance Details/Other Notes
|-
|-
|<span class="blue-text">EXAMPLE:</span>''EGFR''
|<span class="blue-text">EXAMPLE:</span>''EGFR''
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''!!'''Prevalence (COSMIC /  TCGA / Other)'''!!'''Concomitant Mutations'''!!'''Mutually Exclusive Mutations'''
!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)!!Prevalence (COSMIC /  TCGA / Other)!!Concomitant Mutations!!Mutually Exclusive Mutations
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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The <u>epidemiology/prevalence</u> of this disease is detailed below:
The <u>epidemiology/prevalence</u> of this disease is detailed below:


* Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22). More common in males and younger adults.
*Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22). More common in males and younger adults.


The <u>clinical features</u> of this disease are detailed below:
The <u>clinical features</u> of this disease are detailed below:
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The <u>sites of involvement</u> of this disease are detailed below:
The <u>sites of involvement</u> of this disease are detailed below:


* Bone marrow
*Bone marrow


The <u>morphologic features</u> of this disease are detailed below:  
The <u>morphologic features</u> of this disease are detailed below:  
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*populations with granulocytic differentiation positive for CD13, CD33, CD15, CD65 and MPO
*populations with granulocytic differentiation positive for CD13, CD33, CD15, CD65 and MPO
*populations with monocytic differentiation, positive for CD14, CD4, CD11c, CD11b, CD11c, CD64, CD36 and lysozyme
*populations with monocytic differentiation, positive for CD14, CD4, CD11c, CD11b, CD11c, CD64, CD36 and lysozyme
Positive (universal) -
Positive (majority) -
Positive (subset) -
Negative (universal) -
Negative (subset) -


==Links==
==Links==
Retrieved from "https://test.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion"