HAEM5:Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion - Revision history

Bailey.Glen at 17:08, 3 July 2025

2025-07-03T17:08:07Z

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 |Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion
 |}
 ==Related Terminology==

Bailey.Glen at 21:27, 25 May 2025

2025-05-25T21:27:32Z

← Older revision		Revision as of 16:27, 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
	\|-		\|-
	\|<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''

Bailey.Glen at 20:03, 25 May 2025

2025-05-25T20:03:56Z

← Older revision		Revision as of 15:03, 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==
	~~<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 t(8;21)(q22;q22.1)
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Acute myeloid leukaemia with AML1/ETO
	\|}		\|}

Bailey.Glen at 17:30, 24 March 2025

2025-03-24T17:30:46Z

← Older revision		Revision as of 12:30, 24 March 2025
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	{{DISPLAYTITLE:Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion}}		{{DISPLAYTITLE:Acute myeloid leukaemia with RUNX1::RUNX1T1 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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	==Primary Author(s)*==		==Primary Author(s)*==
	Christine Bryke, MD<br>Beth Israel Deaconess Medical Center, Boston, MA		Christine Bryke, MD<br>Beth Israel Deaconess Medical Center, Boston, MA

	~~__TOC__~~

	==WHO Classification of Disease==		==WHO Classification of Disease==

Jennelleh at 15:45, 8 March 2025

2025-03-08T15:45:15Z

← Older revision		Revision as of 10:45, 8 March 2025
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	\|		\|
	\|		\|
	\|}[[File:T_8_21_q22_q22.png\|frame~~\|center~~\| Karyogram showing t(8;21)(q22;q22) translocation. Jennifer		\|}[[File:T_8_21_q22_q22.png\|frame\| Karyogram showing t(8;21)(q22;q22) translocation. Jennifer
	Otani, Beth Israel Deaconess Medical Center, Boston, MA]]		Otani, Beth Israel Deaconess Medical Center, Boston, MA\|alt=\|left]]

	[[File:t(8;21)(q22;q22).png\|frame\|center\| t(8;21)(q22;q22)]]		[[File:t(8;21)(q22;q22).png\|frame\|center\| t(8;21)(q22;q22)]]
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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:

Jennelleh at 15:42, 8 March 2025

2025-03-08T15:42:46Z

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Bailey.Glen at 18:39, 10 February 2025

2025-02-10T18:39:04Z

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Bailey.Glen at 18:11, 10 February 2025

2025-02-10T18:11:01Z

← Older revision		Revision as of 13:11, 10 February 2025
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	{{Under Construction}}		{{Under Construction}}

	<blockquote class="blockedit">{{Box-round\|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification\|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]].		<blockquote class='blockedit'>{{Box-round\|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification\|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Acute Myeloid Leukemia (AML) with t(8;21)(q22;q22.1); RUNX1-RUNX1T1]].
	}}</blockquote>		}}</blockquote>

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	<blockquote class="blockedit">{{Box-round\|title=v4:Clinical Features\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Clinical Features\|The content below was from the old template. Please incorporate above.}}</blockquote>

	*May present as a myeloid sarcoma and, if so, the bone marrow aspirate blast count may be misleadingly low		*May present as a myeloid sarcoma and, if so, the bone marrow aspirate blast count may be misleadingly low
	*Concurrent systemic mastocytosis has been reported.		*Concurrent systemic mastocytosis has been reported.

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Sites of Involvement==		==Sites of Involvement==
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	<blockquote class="blockedit">{{Box-round\|title=v4:Chromosomal Rearrangements (Gene Fusions)\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Chromosomal Rearrangements (Gene Fusions)\|The content below was from the old template. Please incorporate above.}}</blockquote>
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
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	\|}		\|}

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>


	<blockquote class="blockedit">{{Box-round\|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).\|Please incorporate this section into the relevant tables found in:		<blockquote class='blockedit'>{{Box-round\|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).\|Please incorporate this section into the relevant tables found in:
	* Chromosomal Rearrangements (Gene Fusions)		* Chromosomal Rearrangements (Gene Fusions)
	* Individual Region Genomic Gain/Loss/LOH		* Individual Region Genomic Gain/Loss/LOH
	* Characteristic Chromosomal Patterns		* Characteristic Chromosomal Patterns
	* Gene Mutations (SNV/INDEL)}}		* Gene Mutations (SNV/INDEL)}}</blockquote>
	Diagnostic:		Diagnostic:

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	*Recently homoharringtonine, aclarubicin and cytarabine as the first course of induction therapy has been found to be highly effective for acute myeloid leukemia with t(8;21)(q22;q22)<ref name=":0" />.		*Recently homoharringtonine, aclarubicin and cytarabine as the first course of induction therapy has been found to be highly effective for acute myeloid leukemia with t(8;21)(q22;q22)<ref name=":0" />.

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Individual Region Genomic Gain / Loss / LOH==		==Individual Region Genomic Gain / Loss / LOH==
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	\|}		\|}

	<blockquote class="blockedit">{{Box-round\|title=v4:Genomic Gain/Loss/LOH\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Genomic Gain/Loss/LOH\|The content below was from the old template. Please incorporate above.}}</blockquote>

	9q22 loss		9q22 loss

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Characteristic Chromosomal Patterns==		==Characteristic Chromosomal Patterns==
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	\|}		\|}

	<blockquote class="blockedit">{{Box-round\|title=v4:Characteristic Chromosomal Aberrations / Patterns\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Characteristic Chromosomal Aberrations / Patterns\|The content below was from the old template. Please incorporate above.}}</blockquote>

	Additional aberrations in >70% of cases with t(8;21); common loss of a sex chromosome or deletion 9q		Additional aberrations in >70% of cases with t(8;21); common loss of a sex chromosome or deletion 9q
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	Trisomy 4 is a rare numerical abnormality detected in 3% of AML patients with t(8;21) (PMIDs: 12682630, 26573082, 27451976). A negative effect on prognosis this group of patients has been attributed to the presence of the mutations in the KIT gene.. Gain of chromosome 4 would likely result in increased dosage of the mutant KIT allele (PMIDs: 16291592, 30899636).		Trisomy 4 is a rare numerical abnormality detected in 3% of AML patients with t(8;21) (PMIDs: 12682630, 26573082, 27451976). A negative effect on prognosis this group of patients has been attributed to the presence of the mutations in the KIT gene.. Gain of chromosome 4 would likely result in increased dosage of the mutant KIT allele (PMIDs: 16291592, 30899636).

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Gene Mutations (SNV / INDEL)==		==Gene Mutations (SNV / INDEL)==
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	<blockquote class="blockedit">{{Box-round\|title=v4:Gene Mutations (SNV/INDEL)\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Gene Mutations (SNV/INDEL)\|The content below was from the old template. Please incorporate above.}}</blockquote>

	AML with t(8;21)(q22;q22) has genetic heterogeneity at the molecular level. Several genes have been identified that are frequently mutated in this subset of AML, some of them adversely affecting prognosis.		AML with t(8;21)(q22;q22) has genetic heterogeneity at the molecular level. Several genes have been identified that are frequently mutated in this subset of AML, some of them adversely affecting prognosis.
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	\|}		\|}

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Epigenomic Alterations==		==Epigenomic Alterations==
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	\|}		\|}

	<blockquote class="blockedit">{{Box-round\|title=v4:Genes and Main Pathways Involved\|The content below was from the old template. Please incorporate above.}}		<blockquote class='blockedit'>{{Box-round\|title=v4:Genes and Main Pathways Involved\|The content below was from the old template. Please incorporate above.}}</blockquote>

	Genes:		Genes:
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	*The normal transcriptional activity of the RUNX1 protein in the core binding factor is affected in a negative manner by the chimeric protein encoded by the RUNX1-RUNX1T1 fusion gene. It has been proposed that the RUNX1-RUNX1T1 protein recruits histone deacetylases and DNA methyl transferase 1 to core binding factor target genes<ref>{{Cite journal\|last=Marcucci\|first=Guido\|date=2006\|title=Core binding factor acute myeloid leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/16728942\|journal=Clinical Advances in Hematology & Oncology: H&O\|volume=4\|issue=5\|pages=339–341\|issn=1543-0790\|pmid=16728942}}</ref>. This leads to increased chromatin deacetylation and promotor hypermethylation, resulting in gene transcriptional repression and disruption of normal cellular pathways of hematopoiesis.		*The normal transcriptional activity of the RUNX1 protein in the core binding factor is affected in a negative manner by the chimeric protein encoded by the RUNX1-RUNX1T1 fusion gene. It has been proposed that the RUNX1-RUNX1T1 protein recruits histone deacetylases and DNA methyl transferase 1 to core binding factor target genes<ref>{{Cite journal\|last=Marcucci\|first=Guido\|date=2006\|title=Core binding factor acute myeloid leukemia\|url=https://www.ncbi.nlm.nih.gov/pubmed/16728942\|journal=Clinical Advances in Hematology & Oncology: H&O\|volume=4\|issue=5\|pages=339–341\|issn=1543-0790\|pmid=16728942}}</ref>. This leads to increased chromatin deacetylation and promotor hypermethylation, resulting in gene transcriptional repression and disruption of normal cellular pathways of hematopoiesis.

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==

Bailey.Glen at 22:18, 6 September 2024

2024-09-06T22:18:26Z

← Older revision		Revision as of 17:18, 6 September 2024
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	__TOC__		__TOC__

	==~~Cancer Category / Type~~==		==WHO Classification of Disease==

	Acute myeloid ~~leukemia~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification / Subtype==~~		!Disease
			\|-
	Acute myeloid leukaemia (~~AML~~) with ~~t(8;21)(q22;q22.1) resulting in~~ RUNX1-RUNX1T1 fusion		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Acute myeloid leukaemia
			\|-
			\|Type
			\|Acute myeloid leukaemia with defining genetic abnormalities
			\|-
			\|Subtype(s)
			\|Acute myeloid leukaemia with RUNX1::RUNX1T1 fusion
			\|}

	==Definition / Description of Disease==		==Definition / Description of Disease==

Bailey.Glen at 21:49, 6 September 2024

2024-09-06T21:49:36Z

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