Compendium of Cancer Genome Aberrations

HAEM5:Acute myeloid leukaemia with CEBPA mutation: Difference between revisions

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==WHO Essential and Desirable Genetic Diagnostic Criteria==
{| class="wikitable"
|+
|WHO Essential Criteria (Genetics)*
|>= 20% blasts with a myeloid immunophenotype in the bone marrow or blood; presence of biallelic mutations in ''CEBPA (''bi''CEBPA)'', or a single mutation located in the bZIP region (smbZIP-''CEBPA''); absence of criteria allowing for classification into other AMLs with defining genetic abnormalities; not fulling diagnostic criteria for myeloid neoplasm post cytotoxic therapy.
|-
|WHO Desirable Criteria (Genetics)*
|NA
|-
|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==
{| class="wikitable"
{| class="wikitable"
|+
|+
|Acceptable
|Acceptable
|acute myeloid leukaemia with biallelic mutation of ''CEBPA.''
|Acute myeloid leukaemia with biallelic mutation of CEBPA
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


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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
|-
|-
|9
|9
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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> Co-deletion of 1p and 18q
|<span class="blue-text">EXAMPLE:</span> Co-deletion of 1p and 18q
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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
|-
|-
|''CEBPA''
|''CEBPA''
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The treatment approach involves similar induction and consolidation methods as other types of AML, specifically the 7+3 regimen (cytarabine and anthracycline) followed by consolidation with either cytarabine or azacitidine. There may be potential benefits from a stem cell transplant; however, it's important to note that a family member with a germline CEBPA mutation cannot be used as a donor. Relapsed patients have favorable prognosis as well<ref>{{Cite journal|last=Schlenk|first=Richard F.|last2=Taskesen|first2=Erdogan|last3=van Norden|first3=Yvette|last4=Krauter|first4=Jürgen|last5=Ganser|first5=Arnold|last6=Bullinger|first6=Lars|last7=Gaidzik|first7=Verena I.|last8=Paschka|first8=Peter|last9=Corbacioglu|first9=Andrea|date=2013-08-29|title=The value of allogeneic and autologous hematopoietic stem cell transplantation in prognostically favorable acute myeloid leukemia with double mutant CEBPA|url=https://doi.org/10.1182/blood-2013-05-503847|journal=Blood|volume=122|issue=9|pages=1576–1582|doi=10.1182/blood-2013-05-503847|issn=0006-4971}}</ref>. There is also a propose of a new algorithm for the treatment of these patients, including both familial and sporadic ''CEBPA'' mutated AML patients (Figure3)<ref>{{Cite journal|last=Su|first=Long|last2=Shi|first2=Yuan-Yuan|last3=Liu|first3=Zeng-Yan|last4=Gao|first4=Su-Jun|date=2022|title=Acute Myeloid Leukemia With CEBPA Mutations: Current Progress and Future Directions|url=https://pubmed.ncbi.nlm.nih.gov/35178345|journal=Frontiers in Oncology|volume=12|pages=806137|doi=10.3389/fonc.2022.806137|issn=2234-943X|pmc=8844020|pmid=35178345}}</ref>.  
The treatment approach involves similar induction and consolidation methods as other types of AML, specifically the 7+3 regimen (cytarabine and anthracycline) followed by consolidation with either cytarabine or azacitidine. There may be potential benefits from a stem cell transplant; however, it's important to note that a family member with a germline ''CEBPA'' mutation cannot be used as a donor. Relapsed patients have favorable prognosis as well<ref>{{Cite journal|last=Schlenk|first=Richard F.|last2=Taskesen|first2=Erdogan|last3=van Norden|first3=Yvette|last4=Krauter|first4=Jürgen|last5=Ganser|first5=Arnold|last6=Bullinger|first6=Lars|last7=Gaidzik|first7=Verena I.|last8=Paschka|first8=Peter|last9=Corbacioglu|first9=Andrea|date=2013-08-29|title=The value of allogeneic and autologous hematopoietic stem cell transplantation in prognostically favorable acute myeloid leukemia with double mutant CEBPA|url=https://doi.org/10.1182/blood-2013-05-503847|journal=Blood|volume=122|issue=9|pages=1576–1582|doi=10.1182/blood-2013-05-503847|issn=0006-4971}}</ref>. There is also a propose of a new algorithm for the treatment of these patients, including both familial and sporadic ''CEBPA'' mutated AML patients (Figure3)<ref>{{Cite journal|last=Su|first=Long|last2=Shi|first2=Yuan-Yuan|last3=Liu|first3=Zeng-Yan|last4=Gao|first4=Su-Jun|date=2022|title=Acute Myeloid Leukemia With CEBPA Mutations: Current Progress and Future Directions|url=https://pubmed.ncbi.nlm.nih.gov/35178345|journal=Frontiers in Oncology|volume=12|pages=806137|doi=10.3389/fonc.2022.806137|issn=2234-943X|pmc=8844020|pmid=35178345}}</ref>.  
|-
|-
|''CEBPA''
|''CEBPA''
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==Additional Information==
==Additional Information==


CEBPA stands for CCAAT enhancer-binding protein alpha.
''CEBPA'' stands for CCAAT enhancer-binding protein alpha.


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