HAEM5:Acute myeloid leukaemia with DEK::NUP214 fusion - Revision history

Bailey.Glen at 17:07, 3 July 2025

2025-07-03T17:07:05Z

← 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 ''DEK''::''NUP214'' fusion~~
	\|-
	\|WHO Desirable Criteria (Genetics)*
	~~\|Detection of t(6;9)(p22.3;q34.1)~~
	\|-
	~~\|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==

Bailey.Glen at 21:26, 25 May 2025

2025-05-25T21:26:30Z

← 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
	\|-		\|-
	\|N/A		\|N/A
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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
	\|-		\|-
	\|N/A		\|N/A
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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
	\|-		\|-
	\|''FLT3''		\|''FLT3''

Bailey.Glen at 20:02, 25 May 2025

2025-05-25T20:02:54Z

← 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 t(6;9)(p22.3;q34.1)
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 19:20, 25 May 2025

2025-05-25T19:20:07Z

← Older revision		Revision as of 14:20, 25 May 2025
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	{{DISPLAYTITLE:Acute myeloid leukaemia with DEK::NUP214 fusion}}		{{DISPLAYTITLE:Acute myeloid leukaemia with DEK::NUP214 fusion}}

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

Jennelleh at 14:03, 17 May 2025

2025-05-17T14:03:18Z

← Older revision		Revision as of 09:03, 17 May 2025
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	{{DISPLAYTITLE:Acute myeloid leukaemia with DEK::NUP214 fusion}}		{{DISPLAYTITLE:Acute myeloid leukaemia with DEK::NUP214 fusion}}

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

	==Primary Author(s)*==		==Primary Author(s)*==

Jennelleh at 14:01, 17 May 2025

2025-05-17T14:01:55Z

← Older revision		Revision as of 09:01, 17 May 2025
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	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==

	Karyotype, FISH, RT-PCR		Karyotype, FISH, RT-PCR (and any other fusion detecting technologies)

	==Familial Forms==		==Familial Forms==

Jennelleh at 14:00, 17 May 2025

2025-05-17T14:00:54Z

← Older revision		Revision as of 09:00, 17 May 2025
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	N/[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		N/[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

	~~{{Under Construction}}~~

	==Primary Author(s)*==		==Primary Author(s)*==
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	\|Yes (WHO)		\|Yes (WHO)
	\|		\|
	*This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>.		*This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>.
	*Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />.		*Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />.
	*Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.		*Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.
	*The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).		*The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).
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	==References==		==References==
	~~(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 />~~		<references />

	~~<br~~ />

	==Notes==		==Notes==

Jennelleh at 14:00, 17 May 2025

2025-05-17T14:00:07Z

← Older revision		Revision as of 09:00, 17 May 2025
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	==Gene Rearrangements==		==Gene Rearrangements==
	[[File:T(6;9)(p23;q34).png]]		[[File:T(6;9)(p23;q34).png]]

	*This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>. Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />. Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.

	{\| class="wikitable sortable"		{\| class="wikitable sortable"
Line 74:		Line 72:
	\|Yes (WHO)		\|Yes (WHO)
	\|		\|
			*This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>.
			*Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />.
			*Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.
	*The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).		*The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).
	*''DEK''::''NUP214'' has traditionally been associated with a poor prognosis in both adult and pediatric AML cases<ref name=":0" />. Of note, a 2014 retrospective analysis suggests a better outcome for pediatric patients with this translocation than previously reported<ref name=":1">{{Cite journal\|last=Sandahl\|first=Julie Damgaard\|last2=Coenen\|first2=Eva A.\|last3=Forestier\|first3=Erik\|last4=Harbott\|first4=Jochen\|last5=Johansson\|first5=Bertil\|last6=Kerndrup\|first6=Gitte\|last7=Adachi\|first7=Souichi\|last8=Auvrignon\|first8=Anne\|last9=Beverloo\|first9=H. Berna\|date=2014\|title=t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients\|url=https://www.ncbi.nlm.nih.gov/pubmed/24441146\|journal=Haematologica\|volume=99\|issue=5\|pages=865–872\|doi=10.3324/haematol.2013.098517\|issn=1592-8721\|pmc=4008104\|pmid=24441146}}</ref>. Elevated white blood cell counts and higher bone marrow blast percentages are associated with shorter periods of overall survival and disease-free survival, respectively<ref name=":0" />. Limited data suggests early allogeneic stem cell transplantation may be associated with better overall survival compared to patients without transplantation, suggesting accurate diagnosis for these patients is crucial<ref name=":0" /><ref>{{Cite journal\|last=Slovak\|first=M. L.\|last2=Gundacker\|first2=H.\|last3=Bloomfield\|first3=C. D.\|last4=Dewald\|first4=G.\|last5=Appelbaum\|first5=F. R.\|last6=Larson\|first6=R. A.\|last7=Tallman\|first7=M. S.\|last8=Bennett\|first8=J. M.\|last9=Stirewalt\|first9=D. L.\|date=2006\|title=A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare 'poor prognosis' myeloid malignancies\|url=https://www.ncbi.nlm.nih.gov/pubmed/16628187\|journal=Leukemia\|volume=20\|issue=7\|pages=1295–1297\|doi=10.1038/sj.leu.2404233\|issn=0887-6924\|pmid=16628187}}</ref><ref>{{Cite journal\|last=Ishiyama\|first=K.\|last2=Takami\|first2=A.\|last3=Kanda\|first3=Y.\|last4=Nakao\|first4=S.\|last5=Hidaka\|first5=M.\|last6=Maeda\|first6=T.\|last7=Naoe\|first7=T.\|last8=Taniguchi\|first8=S.\|last9=Kawa\|first9=K.\|date=2012\|title=Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis\|url=https://www.ncbi.nlm.nih.gov/pubmed/21869835\|journal=Leukemia\|volume=26\|issue=3\|pages=461–464\|doi=10.1038/leu.2011.229\|issn=1476-5551\|pmid=21869835}}</ref>.		*''DEK''::''NUP214'' has traditionally been associated with a poor prognosis in both adult and pediatric AML cases<ref name=":0" />. Of note, a 2014 retrospective analysis suggests a better outcome for pediatric patients with this translocation than previously reported<ref name=":1">{{Cite journal\|last=Sandahl\|first=Julie Damgaard\|last2=Coenen\|first2=Eva A.\|last3=Forestier\|first3=Erik\|last4=Harbott\|first4=Jochen\|last5=Johansson\|first5=Bertil\|last6=Kerndrup\|first6=Gitte\|last7=Adachi\|first7=Souichi\|last8=Auvrignon\|first8=Anne\|last9=Beverloo\|first9=H. Berna\|date=2014\|title=t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients\|url=https://www.ncbi.nlm.nih.gov/pubmed/24441146\|journal=Haematologica\|volume=99\|issue=5\|pages=865–872\|doi=10.3324/haematol.2013.098517\|issn=1592-8721\|pmc=4008104\|pmid=24441146}}</ref>. Elevated white blood cell counts and higher bone marrow blast percentages are associated with shorter periods of overall survival and disease-free survival, respectively<ref name=":0" />. Limited data suggests early allogeneic stem cell transplantation may be associated with better overall survival compared to patients without transplantation, suggesting accurate diagnosis for these patients is crucial<ref name=":0" /><ref>{{Cite journal\|last=Slovak\|first=M. L.\|last2=Gundacker\|first2=H.\|last3=Bloomfield\|first3=C. D.\|last4=Dewald\|first4=G.\|last5=Appelbaum\|first5=F. R.\|last6=Larson\|first6=R. A.\|last7=Tallman\|first7=M. S.\|last8=Bennett\|first8=J. M.\|last9=Stirewalt\|first9=D. L.\|date=2006\|title=A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare 'poor prognosis' myeloid malignancies\|url=https://www.ncbi.nlm.nih.gov/pubmed/16628187\|journal=Leukemia\|volume=20\|issue=7\|pages=1295–1297\|doi=10.1038/sj.leu.2404233\|issn=0887-6924\|pmid=16628187}}</ref><ref>{{Cite journal\|last=Ishiyama\|first=K.\|last2=Takami\|first2=A.\|last3=Kanda\|first3=Y.\|last4=Nakao\|first4=S.\|last5=Hidaka\|first5=M.\|last6=Maeda\|first6=T.\|last7=Naoe\|first7=T.\|last8=Taniguchi\|first8=S.\|last9=Kawa\|first9=K.\|date=2012\|title=Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis\|url=https://www.ncbi.nlm.nih.gov/pubmed/21869835\|journal=Leukemia\|volume=26\|issue=3\|pages=461–464\|doi=10.1038/leu.2011.229\|issn=1476-5551\|pmid=21869835}}</ref>.

Jennelleh at 13:56, 17 May 2025

2025-05-17T13:56:10Z

← Older revision		Revision as of 08:56, 17 May 2025
Line 58:		Line 58:
	[[File:T(6;9)(p23;q34).png]]		[[File:T(6;9)(p23;q34).png]]

	* This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>. Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />. Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.		*This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>. Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />. Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.

	{\| class="wikitable sortable"		{\| class="wikitable sortable"
Line 116:		Line 116:
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==

	* COSMIC does not have specific information on mutations related to this subtype of AML.		*COSMIC does not have specific information on mutations related to this subtype of AML.

	{\| class="wikitable sortable"		{\| class="wikitable sortable"
Line 144:		Line 144:

	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==

	~~<br />~~
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-

Jennelleh at 13:55, 17 May 2025

2025-05-17T13:55:52Z

← Older revision		Revision as of 08:55, 17 May 2025
Line 4:		Line 4:

	{{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(6;9)(p23;q34.1); DEK-NUP214]].
	~~}}</blockquote>~~

	==Primary Author(s)*==		==Primary Author(s)*==
Line 61:		Line 58:
	[[File:T(6;9)(p23;q34).png]]		[[File:T(6;9)(p23;q34).png]]

	This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>. Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />. Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.		* This AML subtype is classified based on the presence of a t(6;9)(p23;q34.1), which results in fusion of the 5’ portion of ''DEK'' at “6p23” (specifically 6p22.3[hg38]) and the 3’ portion of ''NUP214''(''CAN'') at “9q34.1” (specifically 9q34.13[hg38])<ref name=":0">WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours, 5th edition, IARC Press:Lyon, 2024. Online at: [https://tumourclassification.iarc.who.int/welcome/ WHO Classification of Tumours].</ref><ref>{{Cite journal\|last=Khoury\|first=Joseph D.\|last2=Solary\|first2=Eric\|last3=Abla\|first3=Oussama\|last4=Akkari\|first4=Yassmine\|last5=Alaggio\|first5=Rita\|last6=Apperley\|first6=Jane F.\|last7=Bejar\|first7=Rafael\|last8=Berti\|first8=Emilio\|last9=Busque\|first9=Lambert\|date=2022-07\|title=The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/35732831\|journal=Leukemia\|volume=36\|issue=7\|pages=1703–1719\|doi=10.1038/s41375-022-01613-1\|issn=1476-5551\|pmc=9252913\|pmid=35732831}}</ref>. The breakpoints are intronic, producing an in-frame fusion<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=van Baal\|first3=S.\|last4=Jaegle\|first4=M.\|last5=de Wit\|first5=T.\|last6=Buijs\|first6=A.\|last7=Grosveld\|first7=G.\|date=1992\|title=The translocation (6;9), associated with a specific subtype of acute myeloid leukemia, results in the fusion of two genes, dek and can, and the expression of a chimeric, leukemia-specific dek-can mRNA\|url=https://www.ncbi.nlm.nih.gov/pubmed/1549122\|journal=Molecular and Cellular Biology\|volume=12\|issue=4\|pages=1687–1697\|doi=10.1128/mcb.12.4.1687\|issn=0270-7306\|pmc=PMC369612\|pmid=1549122}}</ref>. The ''DEK''-''NUP214'' fusion present on the derivative chromosome 6 is considered the pathogenic entity as the reciprocal ''NUP214''-''DEK'' fusion on chromosome 9 does not appear to be transcribed<ref>{{Cite journal\|last=von Lindern\|first=M.\|last2=Fornerod\|first2=M.\|last3=Soekarman\|first3=N.\|last4=van Baal\|first4=S.\|last5=Jaegle\|first5=M.\|last6=Hagemeijer\|first6=A.\|last7=Bootsma\|first7=D.\|last8=Grosveld\|first8=G.\|date=1992\|title=Translocation t(6;9) in acute non-lymphocytic leukaemia results in the formation of a DEK-CAN fusion gene\|url=https://www.ncbi.nlm.nih.gov/pubmed/1308167\|journal=Bailliere's Clinical Haematology\|volume=5\|issue=4\|pages=857–879\|doi=10.1016/s0950-3536(11)80049-1\|issn=0950-3536\|pmid=1308167}}</ref>. Typically, the ''DEK''-''NUP214'' fusion presents as the sole abnormality but can be part of a complex karyotype<ref name=":0" />. Cases with the 6;9 translocation and <20% blasts are not currently classified as AML, which is controversial. Such cases should have close follow-up to monitor for development of more definitive evidence of AML or may be treated as AML if clinically appropriate<ref name=":0" />.

	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 76:		Line 74:
	\|Yes (WHO)		\|Yes (WHO)
	\|		\|
	* The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).		*The t(6;9) occurs in 0.6-1.7% of AML cases in children<ref name=":1" /> (REFERENCES) and about 1% of adult AML cases (REFERENCES).
	* ''DEK''::''NUP214'' has traditionally been associated with a poor prognosis in both adult and pediatric AML cases<ref name=":0" />. Of note, a 2014 retrospective analysis suggests a better outcome for pediatric patients with this translocation than previously reported<ref name=":1">{{Cite journal\|last=Sandahl\|first=Julie Damgaard\|last2=Coenen\|first2=Eva A.\|last3=Forestier\|first3=Erik\|last4=Harbott\|first4=Jochen\|last5=Johansson\|first5=Bertil\|last6=Kerndrup\|first6=Gitte\|last7=Adachi\|first7=Souichi\|last8=Auvrignon\|first8=Anne\|last9=Beverloo\|first9=H. Berna\|date=2014\|title=t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients\|url=https://www.ncbi.nlm.nih.gov/pubmed/24441146\|journal=Haematologica\|volume=99\|issue=5\|pages=865–872\|doi=10.3324/haematol.2013.098517\|issn=1592-8721\|pmc=4008104\|pmid=24441146}}</ref>. Elevated white blood cell counts and higher bone marrow blast percentages are associated with shorter periods of overall survival and disease-free survival, respectively<ref name=":0" />. Limited data suggests early allogeneic stem cell transplantation may be associated with better overall survival compared to patients without transplantation, suggesting accurate diagnosis for these patients is crucial<ref name=":0" /><ref>{{Cite journal\|last=Slovak\|first=M. L.\|last2=Gundacker\|first2=H.\|last3=Bloomfield\|first3=C. D.\|last4=Dewald\|first4=G.\|last5=Appelbaum\|first5=F. R.\|last6=Larson\|first6=R. A.\|last7=Tallman\|first7=M. S.\|last8=Bennett\|first8=J. M.\|last9=Stirewalt\|first9=D. L.\|date=2006\|title=A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare 'poor prognosis' myeloid malignancies\|url=https://www.ncbi.nlm.nih.gov/pubmed/16628187\|journal=Leukemia\|volume=20\|issue=7\|pages=1295–1297\|doi=10.1038/sj.leu.2404233\|issn=0887-6924\|pmid=16628187}}</ref><ref>{{Cite journal\|last=Ishiyama\|first=K.\|last2=Takami\|first2=A.\|last3=Kanda\|first3=Y.\|last4=Nakao\|first4=S.\|last5=Hidaka\|first5=M.\|last6=Maeda\|first6=T.\|last7=Naoe\|first7=T.\|last8=Taniguchi\|first8=S.\|last9=Kawa\|first9=K.\|date=2012\|title=Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis\|url=https://www.ncbi.nlm.nih.gov/pubmed/21869835\|journal=Leukemia\|volume=26\|issue=3\|pages=461–464\|doi=10.1038/leu.2011.229\|issn=1476-5551\|pmid=21869835}}</ref>.		*''DEK''::''NUP214'' has traditionally been associated with a poor prognosis in both adult and pediatric AML cases<ref name=":0" />. Of note, a 2014 retrospective analysis suggests a better outcome for pediatric patients with this translocation than previously reported<ref name=":1">{{Cite journal\|last=Sandahl\|first=Julie Damgaard\|last2=Coenen\|first2=Eva A.\|last3=Forestier\|first3=Erik\|last4=Harbott\|first4=Jochen\|last5=Johansson\|first5=Bertil\|last6=Kerndrup\|first6=Gitte\|last7=Adachi\|first7=Souichi\|last8=Auvrignon\|first8=Anne\|last9=Beverloo\|first9=H. Berna\|date=2014\|title=t(6;9)(p22;q34)/DEK-NUP214-rearranged pediatric myeloid leukemia: an international study of 62 patients\|url=https://www.ncbi.nlm.nih.gov/pubmed/24441146\|journal=Haematologica\|volume=99\|issue=5\|pages=865–872\|doi=10.3324/haematol.2013.098517\|issn=1592-8721\|pmc=4008104\|pmid=24441146}}</ref>. Elevated white blood cell counts and higher bone marrow blast percentages are associated with shorter periods of overall survival and disease-free survival, respectively<ref name=":0" />. Limited data suggests early allogeneic stem cell transplantation may be associated with better overall survival compared to patients without transplantation, suggesting accurate diagnosis for these patients is crucial<ref name=":0" /><ref>{{Cite journal\|last=Slovak\|first=M. L.\|last2=Gundacker\|first2=H.\|last3=Bloomfield\|first3=C. D.\|last4=Dewald\|first4=G.\|last5=Appelbaum\|first5=F. R.\|last6=Larson\|first6=R. A.\|last7=Tallman\|first7=M. S.\|last8=Bennett\|first8=J. M.\|last9=Stirewalt\|first9=D. L.\|date=2006\|title=A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare 'poor prognosis' myeloid malignancies\|url=https://www.ncbi.nlm.nih.gov/pubmed/16628187\|journal=Leukemia\|volume=20\|issue=7\|pages=1295–1297\|doi=10.1038/sj.leu.2404233\|issn=0887-6924\|pmid=16628187}}</ref><ref>{{Cite journal\|last=Ishiyama\|first=K.\|last2=Takami\|first2=A.\|last3=Kanda\|first3=Y.\|last4=Nakao\|first4=S.\|last5=Hidaka\|first5=M.\|last6=Maeda\|first6=T.\|last7=Naoe\|first7=T.\|last8=Taniguchi\|first8=S.\|last9=Kawa\|first9=K.\|date=2012\|title=Allogeneic hematopoietic stem cell transplantation for acute myeloid leukemia with t(6;9)(p23;q34) dramatically improves the patient prognosis: a matched-pair analysis\|url=https://www.ncbi.nlm.nih.gov/pubmed/21869835\|journal=Leukemia\|volume=26\|issue=3\|pages=461–464\|doi=10.1038/leu.2011.229\|issn=1476-5551\|pmid=21869835}}</ref>.
	* The concurrent presence of FLT3-ITD does not appear to negatively impact survival in the pediatric population<ref name=":0" />.		*The concurrent presence of FLT3-ITD does not appear to negatively impact survival in the pediatric population<ref name=":0" />.
	\|}		\|}
	==Individual Region Genomic Gain/Loss/LOH==		==Individual Region Genomic Gain/Loss/LOH==
Line 118:		Line 116:
	==Gene Mutations (SNV/INDEL)==		==Gene Mutations (SNV/INDEL)==

	COSMIC does not have specific information on mutations related to this subtype of AML.		* COSMIC does not have specific information on mutations related to this subtype of AML.

	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
Line 136:		Line 135:
	\|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)		\|<span class="blue-text">EXAMPLE:</span> Yes (NCCN)
	\|		\|
	* FLT3-ITD occurs in 69% of children and 78% of adults.		*FLT3-ITD occurs in 69% of children and 78% of adults.
	* In contrast to FLT3-ITD mutations, FLT3-TKD is very uncommon.		*In contrast to FLT3-ITD mutations, FLT3-TKD is very uncommon.
	* The concurrent presence of FLT3-ITD with t(6;9) does not appear to negatively impact survival in the pediatric population<ref name=":0" />.		*The concurrent presence of FLT3-ITD with t(6;9) does not appear to negatively impact survival in the pediatric population<ref name=":0" />.
	\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.		\|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
	==Epigenomic Alterations==		==Epigenomic Alterations==
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	==Genes and Main Pathways Involved==		==Genes and Main Pathways Involved==

	The molecular mechanism is not completely understood, but the fusion protein is known to act as an aberrant transcription factor, alter nuclear transport and induce myeloid cell-specific global protein synthesis<~~ref name=":0"~~ /><ref>{{Cite journal\|last=Ageberg\|first=Malin\|last2=Drott\|first2=Kristina\|last3=Olofsson\|first3=Tor\|last4=Gullberg\|first4=Urban\|last5=Lindmark\|first5=Anders\|date=2008\|title=Identification of a novel and myeloid specific role of the leukemia-associated fusion protein DEK-NUP214 leading to increased protein synthesis\|url=https://www.ncbi.nlm.nih.gov/pubmed/18181180\|journal=Genes, Chromosomes & Cancer\|volume=47\|issue=4\|pages=276–287\|doi=10.1002/gcc.20531\|issn=1098-2264\|pmid=18181180}}</ref>.		<br />
	{\| class="wikitable sortable"		{\| class="wikitable sortable"
	\|-		\|-
	!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome		!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
	\|-		\|-
	\|~~N/A~~		\|''DEK::NUP214''
	\|		\|Unknown
	\|		\|The fusion protein is known to act as an aberrant transcription factor, alter nuclear transport and induce myeloid cell-specific global protein synthesis<ref name=":0" /><ref>{{Cite journal\|last=Ageberg\|first=Malin\|last2=Drott\|first2=Kristina\|last3=Olofsson\|first3=Tor\|last4=Gullberg\|first4=Urban\|last5=Lindmark\|first5=Anders\|date=2008\|title=Identification of a novel and myeloid specific role of the leukemia-associated fusion protein DEK-NUP214 leading to increased protein synthesis\|url=https://www.ncbi.nlm.nih.gov/pubmed/18181180\|journal=Genes, Chromosomes & Cancer\|volume=47\|issue=4\|pages=276–287\|doi=10.1002/gcc.20531\|issn=1098-2264\|pmid=18181180}}</ref>.
	\|}		\|}
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==