HAEM5:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion - Revision history

Sumire.Kitahara: /* Primary Author(s)* */

2025-10-11T00:41:04Z

Primary Author(s)*

← Older revision		Revision as of 19:41, 10 October 2025
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	Marilena Melas, PhD; Yassmine Akkari, PhD, FACMG		Marilena Melas, PhD; Yassmine Akkari, PhD, FACMG

	~~Cancer Category/Type~~
	~~B-Lymphoblastic Leukemia/Lymphoma~~

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

Sumire.Kitahara: /* Individual Region Genomic Gain/Loss/LOH */

2025-10-11T00:39:46Z

Individual Region Genomic Gain/Loss/LOH

← Older revision		Revision as of 19:39, 10 October 2025
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	{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion}}		{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 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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	<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership\|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.		<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the [[Leadership\|''<u>Associate Editor</u>'']] or other CCGA representative. When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

	Prior Author(s):		Prior Author(s): Marilena Melas, PhD; Yassmine Akkari, PhD, FACMG


			<nowiki>*</nowiki>''Citation of this Page'': “B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_ETV6::RUNX1_fusion</nowiki>.
	<nowiki>*</nowiki>''Citation of this Page'': “B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_ETV6::RUNX1_fusion</nowiki>.
	[[Category:HAEM5]]		[[Category:HAEM5]]
	[[Category:DISEASE]]		[[Category:DISEASE]]
	[[Category:Diseases B]]		[[Category:Diseases B]]

Bailey.Glen at 17:10, 3 July 2025

2025-07-03T17:10:06Z

← Older revision		Revision as of 12:10, 3 July 2025
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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==

Bailey.Glen at 21:29, 25 May 2025

2025-05-25T21:29:30Z

← Older revision		Revision as of 16:29, 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 20:05, 25 May 2025

2025-05-25T20:05:54Z

← Older revision		Revision as of 15:05, 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
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|B-lymphoblastic leukaemia/lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)
	\|}		\|}

Bailey.Glen at 17:32, 24 March 2025

2025-03-24T17:32:40Z

← Older revision		Revision as of 12:32, 24 March 2025
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	{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion}}		{{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 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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	Cancer Category/Type		Cancer Category/Type

	~~__TOC__~~

	B-Lymphoblastic Leukemia/Lymphoma		B-Lymphoblastic Leukemia/Lymphoma

Bailey.Glen: Removed old template contents

2025-02-11T15:26:54Z

Removed old template contents

@@ Line 1: / Line 1: @@
 {{DISPLAYTITLE:B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion}}
 [[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
 {{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:B-Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1]].
+<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:B-Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1]].
 }}</blockquote>
@@ Line 39: / Line 40: @@
 |Subtype(s)
 |B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion
 |}
@@ Line 195: / Line 130: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the old template. Please incorporate above.}}</blockquote>
+<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"
@@ Line 211: / Line 146: @@
-<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)
 * Individual Region Genomic Gain/Loss/LOH
@@ Line 279: / Line 214: @@
 |}
-<blockquote class='blockedit'>{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
+<blockquote class="blockedit">{{Box-round|title=v4:Genomic Gain/Loss/LOH|The content below was from the old template. Please incorporate above.}}</blockquote>
 The 12p13 deletion is the most common accompanying abnormality found in approximately 40% of cases resulting in the loss of ''ETV6'' on the chromosome not involved in the rearrangement. In addition, deletion of the ''CDKN2A/B'' locus on 9p21 or the ''PAX5'' gene at 9p13 can be both seen in about a quarter of patients [29–32] . These abnormalities, as well as loss of 6q and gain of chromosome 16, are thought to be among the earliest genomic aberrations in t(12;21) positive B-ALL
@@ Line 430: / Line 365: @@
 (use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span><span style="color:#0070C0">)</span> <references />
-'''
+<br />
 ==Notes==
@@ Line 439: / Line 374: @@
 <nowiki>*</nowiki>''Citation of this Page'': “B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:B_lymphoblastic_leukaemia/lymphoma_with_ETV6::RUNX1_fusion</nowiki>.
-[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases B]]
+[[Category:HAEM5]]

Bailey.Glen at 18:41, 10 February 2025

2025-02-10T18:41:02Z

Show changes

Bailey.Glen at 18:13, 10 February 2025

2025-02-10T18:13:01Z

← Older revision		Revision as of 13:13, 10 February 2025
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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>

	The presence of ''ETV6-RUNX1'' alters differentiation and enhances self renewal of hematopoietic progenitor cells, particularly of B-lineage. The expression of ''ETV6-RUNX1'' in human cord blood progenitor cells reportedly caused the expansion of a candidate pre-leukemic population that had a growth advantage in the presence of transforming growth factor-β		The presence of ''ETV6-RUNX1'' alters differentiation and enhances self renewal of hematopoietic progenitor cells, particularly of B-lineage. The expression of ''ETV6-RUNX1'' in human cord blood progenitor cells reportedly caused the expansion of a candidate pre-leukemic population that had a growth advantage in the presence of transforming growth factor-β

			<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>

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	* 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>

	''ETV6-RUNX1''-positive ALL cells have distinct biologic features and are reported to have an increased ''in vitro'' sensitivity to anti-leukemic drugs such as L-asparaginase, doxorubicin, etoposide and dexamethasone compared with leukemic cells of other cytogenetic subtypes. The presence of ''ETV6-RUNX1'' has been associated with a relatively low rate of relapse in multiple studies.Moreover, relapses tend to occur late and have a better salvage rate than other ALL subtypes. A COG (Children's Oncology Group) study indicated that the presence of ''ETV6-RUNX1'' was an independent predictor of favorable outcome.However, in a study from the (DFCI) Dana Farber Cancer Institute Consortium, ''ETV6-RUNX1'' status was not an independent prognostic factor after accounting for age, initial leukocyte count and treatment group.Thus, it is not clear whether the ''ETV6-RUNX1'' fusion has independent prognostic significance in the context of current risk-adapted therapy and whether the outcome of children with ''ETV6-RUNX1''-positive ALL can be further improved by contemporary therapeutic strategies.		''ETV6-RUNX1''-positive ALL cells have distinct biologic features and are reported to have an increased ''in vitro'' sensitivity to anti-leukemic drugs such as L-asparaginase, doxorubicin, etoposide and dexamethasone compared with leukemic cells of other cytogenetic subtypes. The presence of ''ETV6-RUNX1'' has been associated with a relatively low rate of relapse in multiple studies.Moreover, relapses tend to occur late and have a better salvage rate than other ALL subtypes. A COG (Children's Oncology Group) study indicated that the presence of ''ETV6-RUNX1'' was an independent predictor of favorable outcome.However, in a study from the (DFCI) Dana Farber Cancer Institute Consortium, ''ETV6-RUNX1'' status was not an independent prognostic factor after accounting for age, initial leukocyte count and treatment group.Thus, it is not clear whether the ''ETV6-RUNX1'' fusion has independent prognostic significance in the context of current risk-adapted therapy and whether the outcome of children with ''ETV6-RUNX1''-positive ALL can be further improved by contemporary therapeutic strategies.

			<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>

	The 12p13 deletion is the most common accompanying abnormality found in approximately 40% of cases resulting in the loss of ''ETV6'' on the chromosome not involved in the rearrangement. In addition, deletion of the ''CDKN2A/B'' locus on 9p21 or the ''PAX5'' gene at 9p13 can be both seen in about a quarter of patients [29–32] . These abnormalities, as well as loss of 6q and gain of chromosome 16, are thought to be among the earliest genomic aberrations in t(12;21) positive B-ALL		The 12p13 deletion is the most common accompanying abnormality found in approximately 40% of cases resulting in the loss of ''ETV6'' on the chromosome not involved in the rearrangement. In addition, deletion of the ''CDKN2A/B'' locus on 9p21 or the ''PAX5'' gene at 9p13 can be both seen in about a quarter of patients [29–32] . These abnormalities, as well as loss of 6q and gain of chromosome 16, are thought to be among the earliest genomic aberrations in t(12;21) positive B-ALL
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	\|}		\|}

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

Bailey.Glen at 22:26, 6 September 2024

2024-09-06T22:26:27Z

← Older revision		Revision as of 17:26, 6 September 2024
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	B-Lymphoblastic Leukemia/Lymphoma		B-Lymphoblastic Leukemia/Lymphoma

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

	~~Put your text here~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification / Subtype==~~		!Disease
			\|-
	B-~~Lymphoblastic Leukemia~~/~~Lymphoma with t~~(~~12;21~~)~~(p13.2;q22.1);~~ ETV6-RUNX1		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|B-cell lymphoid proliferations and lymphomas
			\|-
			\|Family
			\|Precursor B-cell neoplasms
			\|-
			\|Type
			\|B-lymphoblastic leukaemias/lymphomas
			\|-
			\|Subtype(s)
			\|B lymphoblastic leukaemia/lymphoma with ETV6::RUNX1 fusion
			\|}

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