HAEM5:Myeloproliferative neoplasm, NOS - Revision history

Bailey.Glen at 17:24, 3 July 2025

2025-07-03T17:24:37Z

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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 21:44, 25 May 2025

2025-05-25T21:44:49Z

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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 20:20, 25 May 2025

2025-05-25T20:20:22Z

← Older revision		Revision as of 15:20, 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
	\|		\|Myeloproliferative neoplasm, unclassifiable
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 17:42, 24 March 2025

2025-03-24T17:42:55Z

← Older revision		Revision as of 12:42, 24 March 2025
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	{{DISPLAYTITLE:Myeloproliferative neoplasm, NOS}}		{{DISPLAYTITLE:Myeloproliferative neoplasm, NOS}}

	[[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)*==
	Thomas Lee, MD, PhD, University of California, Los Angeles		Thomas Lee, MD, PhD, University of California, Los Angeles

	~~__TOC__~~

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

Bailey.Glen: Removed old template contents

2025-02-11T13:05:37Z

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Bailey.Glen at 18:56, 10 February 2025

2025-02-10T18:56:17Z

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Bailey.Glen at 18:28, 10 February 2025

2025-02-10T18:28:16Z

← Older revision		Revision as of 13:28, 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 clinical features are similar to other MPNs and reflect the stage of disease<ref name=":0" />. The early stage can variably show thrombocytosis and leukocytosis with or without anemia and minimal to absent organomegaly. Splanchnic vein thrombosis may be present<ref>{{Cite journal\|last=Gianelli\|first=Umberto\|last2=Iurlo\|first2=Alessandra\|last3=Cattaneo\|first3=Daniele\|last4=Bossi\|first4=Anna\|last5=Cortinovis\|first5=Ivan\|last6=Augello\|first6=Claudia\|last7=Moro\|first7=Alessia\|last8=Savi\|first8=Federica\|last9=Castelli\|first9=Roberto\|date=2015-05\|title=Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis\|url=https://pubmed.ncbi.nlm.nih.gov/25840747\|journal=Leukemia Research\|volume=39\|issue=5\|pages=525–529\|doi=10.1016/j.leukres.2015.03.009\|issn=1873-5835\|pmid=25840747}}</ref>. Marked splenomegaly and/or hepatomegaly with cytopenias can be present with advanced disease.		The clinical features are similar to other MPNs and reflect the stage of disease<ref name=":0" />. The early stage can variably show thrombocytosis and leukocytosis with or without anemia and minimal to absent organomegaly. Splanchnic vein thrombosis may be present<ref>{{Cite journal\|last=Gianelli\|first=Umberto\|last2=Iurlo\|first2=Alessandra\|last3=Cattaneo\|first3=Daniele\|last4=Bossi\|first4=Anna\|last5=Cortinovis\|first5=Ivan\|last6=Augello\|first6=Claudia\|last7=Moro\|first7=Alessia\|last8=Savi\|first8=Federica\|last9=Castelli\|first9=Roberto\|date=2015-05\|title=Discrepancies between bone marrow histopathology and clinical phenotype in BCR-ABL1-negative myeloproliferative neoplasms associated with splanchnic vein thrombosis\|url=https://pubmed.ncbi.nlm.nih.gov/25840747\|journal=Leukemia Research\|volume=39\|issue=5\|pages=525–529\|doi=10.1016/j.leukres.2015.03.009\|issn=1873-5835\|pmid=25840747}}</ref>. Marked splenomegaly and/or hepatomegaly with cytopenias can be present with advanced disease.

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

	There is no defining immunophenotype.		There is no defining immunophenotype.

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
	</blockquote>		</blockquote>
	==Chromosomal Rearrangements (Gene Fusions)==		==Chromosomal Rearrangements (Gene Fusions)==
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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>

	There are no associated chromosomal rearrangements. There should be no ''BCR''-''ABL1'' or ''PCM1-JAK2'' fusion and no ''PDGFRA'', ''PDGFRB'', or ''FGFR1'' rearrangement. Rearrangements that have been reported include t(4;12)(q12;p13)<ref name=":5">{{Cite journal\|last=Zhang\|first=Ling\|last2=Wang\|first2=Man\|last3=Wang\|first3=Zheng\|last4=Zeng\|first4=Zhao\|last5=Wen\|first5=Lijun\|last6=Xu\|first6=Yi\|last7=Yao\|first7=Li\|last8=Cen\|first8=Jiannong\|last9=Li\|first9=Hongzhi\|date=2020-10\|title=Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13)\|url=https://pubmed.ncbi.nlm.nih.gov/32734549\|journal=Annals of Hematology\|volume=99\|issue=10\|pages=2445–2447\|doi=10.1007/s00277-020-04207-y\|issn=1432-0584\|pmid=32734549}}</ref>.		There are no associated chromosomal rearrangements. There should be no ''BCR''-''ABL1'' or ''PCM1-JAK2'' fusion and no ''PDGFRA'', ''PDGFRB'', or ''FGFR1'' rearrangement. Rearrangements that have been reported include t(4;12)(q12;p13)<ref name=":5">{{Cite journal\|last=Zhang\|first=Ling\|last2=Wang\|first2=Man\|last3=Wang\|first3=Zheng\|last4=Zeng\|first4=Zhao\|last5=Wen\|first5=Lijun\|last6=Xu\|first6=Yi\|last7=Yao\|first7=Li\|last8=Cen\|first8=Jiannong\|last9=Li\|first9=Hongzhi\|date=2020-10\|title=Identification of a novel ETV6 truncated fusion gene in myeloproliferative neoplasm, unclassifiable with t(4;12)(q12;p13)\|url=https://pubmed.ncbi.nlm.nih.gov/32734549\|journal=Annals of Hematology\|volume=99\|issue=10\|pages=2445–2447\|doi=10.1007/s00277-020-04207-y\|issn=1432-0584\|pmid=32734549}}</ref>.
			<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>

	Follow-up studies on a 6 - 12 month interval can provide additional information for classification<ref name=":0" />.		Follow-up studies on a 6 - 12 month interval can provide additional information for classification<ref name=":0" />.

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

	There are no characteristic genomic gain/loss/LOH.		There are no characteristic genomic gain/loss/LOH.
			<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>

	There are no characteristic chromosomal aberrations/patterns. Cytogenetic abnormalities have been described in four (5.6%) of 71 2008 WHO diagnosed cases<ref name=":1" /> and one (20%) of five 2016 WHO diagnosed cases<ref name=":3" />. Chromosomal aberrations that have been reported include trisomy 8<ref name=":1" /> and 46,XY,inv(12)(q15q24.1)<ref name=":3" />.		There are no characteristic chromosomal aberrations/patterns. Cytogenetic abnormalities have been described in four (5.6%) of 71 2008 WHO diagnosed cases<ref name=":1" /> and one (20%) of five 2016 WHO diagnosed cases<ref name=":3" />. Chromosomal aberrations that have been reported include trisomy 8<ref name=":1" /> and 46,XY,inv(12)(q15q24.1)<ref name=":3" />.

			<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>

	Mutations in ''JAK2'', ''MPL'', and ''CALR'' are recurrent. A subset of cases have been reported to be negative for mutations in these three genes (i.e. triple negative). Limited studies have reported mutations in other genes including ''ASXL1''<ref name=":3" /> and ''ZRSR2''<ref name=":3" /><ref name=":5" />.		Mutations in ''JAK2'', ''MPL'', and ''CALR'' are recurrent. A subset of cases have been reported to be negative for mutations in these three genes (i.e. triple negative). Limited studies have reported mutations in other genes including ''ASXL1''<ref name=":3" /> and ''ZRSR2''<ref name=":3" /><ref name=":5" />.
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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>

	Mutations in ''JAK2'', ''CALR'', and ''MPL'' lead to constitutive activation of the Janus kinase/signal transducer and activator of transcription (JAK-STAT) pathway. ''JAK2'' V617F mutations affect signalling through the EPOR, MPL, and G-CSFR homodimeric receptors while ''CALR'' and ''MPL'' mutations affect signalling through MPL only<ref>{{Cite journal\|last=Vainchenker\|first=William\|last2=Kralovics\|first2=Robert\|date=02 09, 2017\|title=Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/28028029\|journal=Blood\|volume=129\|issue=6\|pages=667–679\|doi=10.1182/blood-2016-10-695940\|issn=1528-0020\|pmid=28028029}}</ref>.		Mutations in ''JAK2'', ''CALR'', and ''MPL'' lead to constitutive activation of the Janus kinase/signal transducer and activator of transcription (JAK-STAT) pathway. ''JAK2'' V617F mutations affect signalling through the EPOR, MPL, and G-CSFR homodimeric receptors while ''CALR'' and ''MPL'' mutations affect signalling through MPL only<ref>{{Cite journal\|last=Vainchenker\|first=William\|last2=Kralovics\|first2=Robert\|date=02 09, 2017\|title=Genetic basis and molecular pathophysiology of classical myeloproliferative neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/28028029\|journal=Blood\|volume=129\|issue=6\|pages=667–679\|doi=10.1182/blood-2016-10-695940\|issn=1528-0020\|pmid=28028029}}</ref>.

			<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 22:16, 6 September 2024

2024-09-06T22:16:20Z

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	__TOC__		__TOC__

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

	Myeloproliferative ~~neoplasm~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification /~~ Subtype==		!Disease
			\|-
	Myeloproliferative neoplasm, ~~unclassifiable~~		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Myeloproliferative neoplasms
			\|-
			\|Type
			\|Myeloproliferative neoplasms
			\|-
			\|Subtype(s)
			\|Myeloproliferative neoplasm, NOS
			\|}

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

Bailey.Glen at 22:06, 6 September 2024

2024-09-06T22:06:52Z

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Bailey.Glen at 19:35, 13 December 2023

2023-12-13T19:35:14Z

← Older revision		Revision as of 14:35, 13 December 2023
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	<blockquote class='blockedit'>{{Box-round\|title=HAEM5 Conversion Notes\|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloproliferative Neoplasm (MPN), Unclassifiable]].		<blockquote class='blockedit'>{{Box-round\|title=HAEM5 Conversion Notes\|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Myeloproliferative Neoplasm (MPN), Unclassifiable]].
	}}</blockquote>		}}</blockquote>

			<span style="color:#0070C0">(General Instructions – The main focus of these pages is the clinically significant genetic alterations in each disease type. Use [https://www.genenames.org/ <u>HUGO-approved gene names and symbols</u>] (italicized when appropriate), [https://varnomen.hgvs.org/ HGVS-based nomenclature for variants], as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples). Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see </span><u>[[Author_Instructions]]</u><span style="color:#0070C0"> and [[Frequently Asked Questions (FAQs)\|<u>FAQs</u>]] as well as contact your [[Leadership\|<u>Associate Editor</u>]] or [mailto:CCGA@cancergenomics.org <u>Technical Support</u>])</span>

	==Primary Author(s)*==		==Primary Author(s)*==
	Thomas Lee, MD, PhD, University of California, Los Angeles		Thomas Lee, MD, PhD, University of California, Los Angeles