HAEM5:Primary myelofibrosis - Revision history

Jennelleh: Rejected the last text change (by TestEditor) and restored revision 18851 by Bailey.Glen

2025-11-07T20:25:06Z

Rejected the last text change (by TestEditor) and restored revision 18851 by Bailey.Glen

← Older revision		Revision as of 15:25, 7 November 2025
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	T. Niroshi Senaratne, UCLA		T. Niroshi Senaratne, UCLA

	~~test~~
	==WHO Classification of Disease==		==WHO Classification of Disease==

TestEditor at 20:22, 7 November 2025

2025-11-07T20:22:41Z

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	T. Niroshi Senaratne, UCLA		T. Niroshi Senaratne, UCLA

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

Bailey.Glen at 17:28, 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 21:48, 25 May 2025

2025-05-25T21:48:49Z

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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 20:24, 25 May 2025

2025-05-25T20:24:17Z

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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
	\|		\|Chronic idiopathic myelofibrosis; myelofibrosis with myeloid metaplasia; agnogenic myeloid metaplasia; idiopathic myelofibrosis
	\|}		\|}

Bailey.Glen at 17:45, 24 March 2025

2025-03-24T17:45:45Z

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	{{DISPLAYTITLE:Primary myelofibrosis}}		{{DISPLAYTITLE:Primary myelofibrosis}}

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

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	T. Niroshi Senaratne, UCLA		T. Niroshi Senaratne, UCLA

	~~__TOC__~~

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

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2025-02-11T13:03:02Z

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Bailey.Glen at 18:59, 10 February 2025

2025-02-10T18:59:25Z

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Bailey.Glen at 18:31, 10 February 2025

2025-02-10T18:31:23Z

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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>

	As many as 30% of patients with PMF may be asymptomatic at the time of diagnosis, and are found by detection of splenomegaly, anemia, leukocytosis and/or thrombocytosis. More than 50% of patients experience constitutional symptoms.		As many as 30% of patients with PMF may be asymptomatic at the time of diagnosis, and are found by detection of splenomegaly, anemia, leukocytosis and/or thrombocytosis. More than 50% of patients experience constitutional symptoms.
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	Leukemic transformation may occur in 4-20% of patients and is associated with a poor prognosis.		Leukemic transformation may occur in 4-20% of patients and is associated with a poor prognosis.

			<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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	Balanced translocations are rare in PMF and few are recurrent. One recurrent unbalanced translocation has been described, der(6)t(1;6)(q21;p21) resulting in gain of 1q and loss of 6p [Dingli et al 2005; Djordjevic et al., 2007].		Balanced translocations are rare in PMF and few are recurrent. One recurrent unbalanced translocation has been described, der(6)t(1;6)(q21;p21) resulting in gain of 1q and loss of 6p [Dingli et al 2005; Djordjevic et al., 2007].

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			<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>

	Since the mutations and chromosome aberrations detected in PMF can also be found in other MPN, genetic findings alone cannot be used to make the diagnosis of PMF.		Since the mutations and chromosome aberrations detected in PMF can also be found in other MPN, genetic findings alone cannot be used to make the diagnosis of PMF.
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	In terms of therapeutic options, the preferred option for high risk patients is allogenic stem cell transplant, while low risk patients may be followed with observation only. For intermediate risk patients, treatments including ''JAK2'' inhibitors may be used [Tefferi et al 2018d].		In terms of therapeutic options, the preferred option for high risk patients is allogenic stem cell transplant, while low risk patients may be followed with observation only. For intermediate risk patients, treatments including ''JAK2'' inhibitors may be used [Tefferi et al 2018d].

			<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>

	Put your text here and/or fill in the table		Put your text here and/or fill in the table
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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==
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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>

	Approximately 30-42.6% of PMF cases show cytogenetic abnormalities, with more advanced cases showing increasing frequency of abnormalities. The most common are del(20q) (19-33%) and del(13q) (14-23%), with additional abnormalities including trisomy 8 (8-16%), trisomy 9 (3-14%), and abnormalities of chromosome 1 (6-28%).		Approximately 30-42.6% of PMF cases show cytogenetic abnormalities, with more advanced cases showing increasing frequency of abnormalities. The most common are del(20q) (19-33%) and del(13q) (14-23%), with additional abnormalities including trisomy 8 (8-16%), trisomy 9 (3-14%), and abnormalities of chromosome 1 (6-28%).
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	Disease progression is associated with additional abnormalities, including gain of 1q (3-19%), del(5q) (3-6%), chromosome 7 abnormalities (5-10%), del(17p) and in rare cases i(17q) [Ref: Vandenberghe and Michaux, 2015 in Cancer Cytogenetics (Eds: Heim and Mitelman); see also Wassie et al 2015].		Disease progression is associated with additional abnormalities, including gain of 1q (3-19%), del(5q) (3-6%), chromosome 7 abnormalities (5-10%), del(17p) and in rare cases i(17q) [Ref: Vandenberghe and Michaux, 2015 in Cancer Cytogenetics (Eds: Heim and Mitelman); see also Wassie et al 2015].

			<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: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>

	''JAK2'' mutations result in constitutive activation of ''JAK2'' signalling. ''CALR'' and ''MPL'' mutations also result in activation of the same pathway.		''JAK2'' mutations result in constitutive activation of ''JAK2'' signalling. ''CALR'' and ''MPL'' mutations also result in activation of the same pathway.

			<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 22:15, 6 September 2024

2024-09-06T22:15:34Z

← Older revision		Revision as of 17:15, 6 September 2024
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	__TOC__		__TOC__

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

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

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