HAEM5:Acute myeloid leukaemia with CEBPA mutation - Revision history

Bailey.Glen at 17:07, 3 July 2025

2025-07-03T17:07:03Z

← Older revision		Revision as of 12:07, 3 July 2025
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	\|}		\|}

	~~==WHO Essential and Desirable Genetic Diagnostic Criteria==~~
	~~{\| class="wikitable"~~
	\|+
	\|WHO Essential Criteria (Genetics)*
	\|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
	\|-
	\|WHO Desirable Criteria (Genetics)*
	~~\|N/A~~
	\|-
	~~\|Other Classification~~
	~~\|N/A~~
	\|}
	<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==

Jennelleh at 15:09, 28 May 2025

2025-05-28T15:09:14Z

← Older revision		Revision as of 10:09, 28 May 2025
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	{{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}}		{{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}}

	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

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	\|+		\|+
	\|WHO Essential Criteria (Genetics)*		\|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.~~		\|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
	\|-		\|-
	\|WHO Desirable Criteria (Genetics)*		\|WHO Desirable Criteria (Genetics)*
	\|NA		\|N/A
	\|-		\|-
	\|Other Classification		\|Other Classification
	\|		\|N/A
	\|}		\|}
	<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>].		<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>].

Bailey.Glen at 21:26, 25 May 2025

2025-05-25T21:26:27Z

← Older revision		Revision as of 16:26, 25 May 2025
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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''

Bailey.Glen at 20:02, 25 May 2025

2025-05-25T20:02:51Z

← Older revision		Revision as of 15:02, 25 May 2025
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	<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>].		<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
	\|}		\|}

Bailey.Glen at 19:20, 25 May 2025

2025-05-25T19:20:04Z

← Older revision		Revision as of 14:20, 25 May 2025
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	{{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}}		{{DISPLAYTITLE:Acute myeloid leukaemia with CEBPA mutation}}

	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

Xinxiu.Xu at 04:01, 18 May 2025

2025-05-18T04:01:34Z

← Older revision		Revision as of 23:01, 17 May 2025
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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==

Xinxiu.Xu at 03:59, 18 May 2025

2025-05-18T03:59:24Z

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Xinxiu.Xu at 18:31, 17 May 2025

2025-05-17T18:31:30Z

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Xinxiu.Xu at 01:59, 12 May 2025

2025-05-12T01:59:21Z

← Older revision		Revision as of 20:59, 11 May 2025
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	\|+		\|+
	\|Acceptable		\|Acceptable
	\|acute myeloid leukaemia with biallelic mutation of ''CEBPA.''		\|acute myeloid leukaemia with biallelic mutation of ''CEBPA.''
	\|-		\|-
	\|Not Recommended		\|Not Recommended
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	!'''Clinical Relevance Details/Other Notes'''		!'''Clinical Relevance Details/Other Notes'''
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~''~~EGFR~~''		\|''CEBPA''

	<br />		<br />
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	\|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).		\|<span class="blue-text">EXAMPLE:</span> Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~ ''~~TP53~~''~~; Variable LOF mutations~~		\|''CEBPA''
	<br />		<br />
	\|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations		\|<span class="blue-text">EXAMPLE:</span> Variable LOF mutations
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	\|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.		\|<span class="blue-text">EXAMPLE:</span> >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span>~~ ''~~BRAF~~''~~; Activating mutations~~		\|''CEBPA''
	\|~~<span class="blue-text">EXAMPLE:</span> Activating mutations~~		\|c.247delC, p.Q83fs*77
	\|<span class="blue-text">EXAMPLE:</span> Oncogene		\|<span class="blue-text">EXAMPLE:</span> Oncogene
	\|<span class="blue-text">EXAMPLE:</span> Common (melanoma)		\|<span class="blue-text">EXAMPLE:</span> Common (melanoma)
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	\|		\|
	\|-		\|-
			\|''CEBPA''
			\|c.936_937insCAG, p.Q312_K313insQ
	\|		\|
	\|		\|
			\|
			\|
			\|
			\|-
			\|''CEBPA''
			\|c.912_913insTTG, p.K304_Q305insL
	\|		\|
	\|		\|

Xinxiu.Xu at 23:56, 11 May 2025

2025-05-11T23:56:13Z

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