HAEM5:Systemic mastocytosis - Revision history

Bailey.Glen at 17:30, 3 July 2025

2025-07-03T17:30:30Z

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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 21:49, 25 May 2025

2025-05-25T21:49:58Z

← Older revision		Revision as of 16:49, 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 20:26, 25 May 2025

2025-05-25T20:26:18Z

← Older revision		Revision as of 15:26, 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
	\|		\|Systemic mast cell disease; systemic mastocytosis with an associated clonal haematological non–mast cell lineage disease
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 17:45, 24 March 2025

2025-03-24T17:45:59Z

← Older revision		Revision as of 12:45, 24 March 2025
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	{{DISPLAYTITLE:Systemic mastocytosis}}		{{DISPLAYTITLE:Systemic mastocytosis}}

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

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	'''Shashi Shetty, Ph.D. FACMG, FCCMG,''' University Hospitals Cleveland Medical Center, Case Western Reserve University		'''Shashi Shetty, Ph.D. FACMG, FCCMG,''' University Hospitals Cleveland Medical Center, Case Western Reserve University

	~~__TOC__~~

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

Bailey.Glen: Removed old template contents

2025-02-11T13:08:00Z

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Bailey.Glen at 19:01, 10 February 2025

2025-02-10T19:01:28Z

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Bailey.Glen at 18:33, 10 February 2025

2025-02-10T18:33:26Z

← Older revision		Revision as of 13:33, 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 symptoms, disease course and prognosis is determined by both to systemic mastocytosis and to the associated haematological disorder<ref>{{Cite journal\|last=Kh\|first=Lim\|last2=A\|first2=Tefferi\|last3=Tl\|first3=Lasho\|last4=C\|first4=Finke\|last5=M\|first5=Patnaik\|last6=Jh\|first6=Butterfield\|last7=Rf\|first7=McClure\|last8=Cy\|first8=Li\|last9=A\|first9=Pardanani\|date=2009\|title=Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors\|url=https://pubmed.ncbi.nlm.nih.gov/19363219/\|language=en\|pmid=19363219}}</ref> <ref>{{Cite journal\|last=Horny\|first=H-P\|last2=Sotlar\|first2=K\|last3=Sperr\|first3=W R\|last4=Valent\|first4=P\|date=2004\|title=Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge\|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1770310/\|journal=Journal of Clinical Pathology\|volume=57\|issue=6\|pages=604–608\|doi=10.1136/jcp.2003.014860\|issn=0021-9746\|pmc=1770310\|pmid=15166264}}</ref><sup>,</sup><ref>{{Cite journal\|last=Valent\|first=P.\|last2=Sotlar\|first2=K.\|last3=Sperr\|first3=W. R.\|last4=Escribano\|first4=L.\|last5=Yavuz\|first5=S.\|last6=Reiter\|first6=A.\|last7=George\|first7=T. I.\|last8=Kluin-Nelemans\|first8=H. C.\|last9=Hermine\|first9=O.\|date=2014\|title=Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal\|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155468/\|journal=Annals of Oncology\|volume=25\|issue=9\|pages=1691–1700\|doi=10.1093/annonc/mdu047\|issn=0923-7534\|pmc=4155468\|pmid=24675021}}</ref>		The clinical symptoms, disease course and prognosis is determined by both to systemic mastocytosis and to the associated haematological disorder<ref>{{Cite journal\|last=Kh\|first=Lim\|last2=A\|first2=Tefferi\|last3=Tl\|first3=Lasho\|last4=C\|first4=Finke\|last5=M\|first5=Patnaik\|last6=Jh\|first6=Butterfield\|last7=Rf\|first7=McClure\|last8=Cy\|first8=Li\|last9=A\|first9=Pardanani\|date=2009\|title=Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors\|url=https://pubmed.ncbi.nlm.nih.gov/19363219/\|language=en\|pmid=19363219}}</ref> <ref>{{Cite journal\|last=Horny\|first=H-P\|last2=Sotlar\|first2=K\|last3=Sperr\|first3=W R\|last4=Valent\|first4=P\|date=2004\|title=Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge\|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1770310/\|journal=Journal of Clinical Pathology\|volume=57\|issue=6\|pages=604–608\|doi=10.1136/jcp.2003.014860\|issn=0021-9746\|pmc=1770310\|pmid=15166264}}</ref><sup>,</sup><ref>{{Cite journal\|last=Valent\|first=P.\|last2=Sotlar\|first2=K.\|last3=Sperr\|first3=W. R.\|last4=Escribano\|first4=L.\|last5=Yavuz\|first5=S.\|last6=Reiter\|first6=A.\|last7=George\|first7=T. I.\|last8=Kluin-Nelemans\|first8=H. C.\|last9=Hermine\|first9=O.\|date=2014\|title=Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal\|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155468/\|journal=Annals of Oncology\|volume=25\|issue=9\|pages=1691–1700\|doi=10.1093/annonc/mdu047\|issn=0923-7534\|pmc=4155468\|pmid=24675021}}</ref>

			<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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	* 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>

	In systemic mastocytosis cases, an associated haematological neoplasm can be diagnosed before, simultaneously, or after. Any defined myeloid or lymphoid malignancy can occur as an associated haematological neoplasm, but most commonly myeloid neoplasms predominate, with chronic myelomonocytic leukaemia and myelodysplastic/myeloproliferative neoplasm, and unclassifiable are seen {1694,1696,1697, 3735,3751,3793}.		In systemic mastocytosis cases, an associated haematological neoplasm can be diagnosed before, simultaneously, or after. Any defined myeloid or lymphoid malignancy can occur as an associated haematological neoplasm, but most commonly myeloid neoplasms predominate, with chronic myelomonocytic leukaemia and myelodysplastic/myeloproliferative neoplasm, and unclassifiable are seen {1694,1696,1697, 3735,3751,3793}.
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	The activating KIT D816V mutation is seen in most cases of SM-AHN, and usually this mutation is detectable in the systemic mastocytosis compartment and in the AHN cells. Additional mutations in other genes (e.g. TET2, SRSF2, ASXL1, CBL, RUNX1 and the RAS family of oncogenes) may also be detected depending based on the type of AHN. And these mutations will impact on the prognosis.		The activating KIT D816V mutation is seen in most cases of SM-AHN, and usually this mutation is detectable in the systemic mastocytosis compartment and in the AHN cells. Additional mutations in other genes (e.g. TET2, SRSF2, ASXL1, CBL, RUNX1 and the RAS family of oncogenes) may also be detected depending based on the type of AHN. And these mutations will impact on the prognosis.

			<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: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>

	The KIT gene mutation is useful in the diagnosis of systemic mastocytosis (SM) or mixed lineage hematopoietic neoplasms with a mast cell component and to stratify prognosis of core-binding factor (CBF) acute myeloid leukemia (AML).		The KIT gene mutation is useful in the diagnosis of systemic mastocytosis (SM) or mixed lineage hematopoietic neoplasms with a mast cell component and to stratify prognosis of core-binding factor (CBF) acute myeloid leukemia (AML).
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	\|}		\|}

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

Bailey.Glen at 22:16, 6 September 2024

2024-09-06T22:16:25Z

← Older revision		Revision as of 17:16, 6 September 2024
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	__TOC__		__TOC__

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

	~~Mastocytosis~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification / Subtype==~~		!Disease
			\|-
	Mastocytosis		\|Book
			\|Haematolymphoid Tumours (5th ed.)
	~~Systemic Mastocytosis~~		\|-
			\|Category
	Systemic ~~Mastocytosis with an Associated Hematological Neoplasm~~		\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Mastocytosis
			\|-
			\|Type
			\|N/A
			\|-
			\|Subtype(s)
			\|Systemic mastocytosis
			\|}

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

Bailey.Glen at 22:12, 6 September 2024

2024-09-06T22:12:05Z

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Bailey.Glen at 19:40, 13 December 2023

2023-12-13T19:40:24Z

← Older revision		Revision as of 14:40, 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:Systemic Mastocytosis]].		<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:Systemic Mastocytosis]].
	}}</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)*==