HAEM5:Myelodysplastic neoplasm with increased blasts - Revision history

Bailey.Glen at 17:22, 3 July 2025

2025-07-03T17:22:30Z

← Older revision		Revision as of 12:22, 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 21:42, 25 May 2025

2025-05-25T21:42:00Z

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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 20:18, 25 May 2025

2025-05-25T20:18:16Z

← Older revision		Revision as of 15:18, 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
	\|		\|MDS with excess blasts 1; MDS with excess blasts 2; refractory anaemia with excess blasts 1; refractory anaemia with excess blasts 2
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 17:40, 24 March 2025

2025-03-24T17:40:59Z

← Older revision		Revision as of 12:40, 24 March 2025
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	{{DISPLAYTITLE:Myelodysplastic neoplasm with increased blasts}}		{{DISPLAYTITLE:Myelodysplastic neoplasm with increased blasts}}

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

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	Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.		Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH, 45229, USA.

	~~__TOC__~~

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

Bailey.Glen: Removing old template content

2025-02-11T13:17:47Z

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Bailey.Glen at 18:53, 10 February 2025

2025-02-10T18:53:30Z

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Bailey.Glen at 18:25, 10 February 2025

2025-02-10T18:25:23Z

← Older revision		Revision as of 13:25, 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 often nonspecific and are generally related to the corresponding cytopenias such as anemia, thrombocytopenia and neutropenia. The recommended thresholds for cytopenia suggested by International Prognostic Scoring System (IPSS) (PMID: 22740453) include:		The clinical features are often nonspecific and are generally related to the corresponding cytopenias such as anemia, thrombocytopenia and neutropenia. The recommended thresholds for cytopenia suggested by International Prognostic Scoring System (IPSS) (PMID: 22740453) include:
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	*Platelet count: <100 x10<sup>9</sup>/L		*Platelet count: <100 x10<sup>9</sup>/L

			<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>

	None		None
			<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>

	*Diagnosis: 2-19% blasts in peripheral blood or 5-19% myeloblasts in bone marrow		*Diagnosis: 2-19% blasts in peripheral blood or 5-19% myeloblasts in bone marrow
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	*Therapeutic: Hematopoietic stem cell transplantation (HSCT) is the therapy of choice for MDS-EB in childhood with the best available donor<ref>{{Cite journal\|last=Hasle\|first=Henrik\|date=2016-12-02\|title=Myelodysplastic and myeloproliferative disorders of childhood\|url=https://pubmed.ncbi.nlm.nih.gov/27913534\|journal=Hematology. American Society of Hematology. Education Program\|volume=2016\|issue=1\|pages=598–604\|doi=10.1182/asheducation-2016.1.598\|issn=1520-4383\|pmc=6142519\|pmid=27913534}}</ref>. Azacitidine, a DNA methyltransferase-inhibitor, has been reported to increase the overall survival for adult patients with high-risk MDS (MDS-REB) in comparison with conventional care<ref>{{Cite journal\|last=Gore\|first=Steven D.\|last2=Fenaux\|first2=Pierre\|last3=Santini\|first3=Valeria\|last4=Bennett\|first4=John M.\|last5=Silverman\|first5=Lewis R.\|last6=Seymour\|first6=John F.\|last7=Hellström-Lindberg\|first7=Eva\|last8=Swern\|first8=Arlene S.\|last9=Beach\|first9=Charles L.\|date=2013-07\|title=A multivariate analysis of the relationship between response and survival among patients with higher-risk myelodysplastic syndromes treated within azacitidine or conventional care regimens in the randomized AZA-001 trial\|url=https://pubmed.ncbi.nlm.nih.gov/23585522\|journal=Haematologica\|volume=98\|issue=7\|pages=1067–1072\|doi=10.3324/haematol.2012.074831\|issn=1592-8721\|pmc=3696610\|pmid=23585522}}</ref>.		*Therapeutic: Hematopoietic stem cell transplantation (HSCT) is the therapy of choice for MDS-EB in childhood with the best available donor<ref>{{Cite journal\|last=Hasle\|first=Henrik\|date=2016-12-02\|title=Myelodysplastic and myeloproliferative disorders of childhood\|url=https://pubmed.ncbi.nlm.nih.gov/27913534\|journal=Hematology. American Society of Hematology. Education Program\|volume=2016\|issue=1\|pages=598–604\|doi=10.1182/asheducation-2016.1.598\|issn=1520-4383\|pmc=6142519\|pmid=27913534}}</ref>. Azacitidine, a DNA methyltransferase-inhibitor, has been reported to increase the overall survival for adult patients with high-risk MDS (MDS-REB) in comparison with conventional care<ref>{{Cite journal\|last=Gore\|first=Steven D.\|last2=Fenaux\|first2=Pierre\|last3=Santini\|first3=Valeria\|last4=Bennett\|first4=John M.\|last5=Silverman\|first5=Lewis R.\|last6=Seymour\|first6=John F.\|last7=Hellström-Lindberg\|first7=Eva\|last8=Swern\|first8=Arlene S.\|last9=Beach\|first9=Charles L.\|date=2013-07\|title=A multivariate analysis of the relationship between response and survival among patients with higher-risk myelodysplastic syndromes treated within azacitidine or conventional care regimens in the randomized AZA-001 trial\|url=https://pubmed.ncbi.nlm.nih.gov/23585522\|journal=Haematologica\|volume=98\|issue=7\|pages=1067–1072\|doi=10.3324/haematol.2012.074831\|issn=1592-8721\|pmc=3696610\|pmid=23585522}}</ref>.

			<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>

	*Nonspecific cytogenetic abnormalities have been observed in 30-50% of MDS-EB cases.		*Nonspecific cytogenetic abnormalities have been observed in 30-50% of MDS-EB cases.
	*Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype<ref>{{Cite journal\|last=Germing\|first=Ulrich\|last2=Strupp\|first2=Corinna\|last3=Kuendgen\|first3=Andrea\|last4=Isa\|first4=Shadi\|last5=Knipp\|first5=Sabine\|last6=Hildebrandt\|first6=Barbara\|last7=Giagounidis\|first7=Aristoteles\|last8=Aul\|first8=Carlo\|last9=Gattermann\|first9=Norbert\|date=2006-12\|title=Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/17145595\|journal=Haematologica\|volume=91\|issue=12\|pages=1596–1604\|issn=1592-8721\|pmid=17145595}}</ref>.		*Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype<ref>{{Cite journal\|last=Germing\|first=Ulrich\|last2=Strupp\|first2=Corinna\|last3=Kuendgen\|first3=Andrea\|last4=Isa\|first4=Shadi\|last5=Knipp\|first5=Sabine\|last6=Hildebrandt\|first6=Barbara\|last7=Giagounidis\|first7=Aristoteles\|last8=Aul\|first8=Carlo\|last9=Gattermann\|first9=Norbert\|date=2006-12\|title=Prospective validation of the WHO proposals for the classification of myelodysplastic syndromes\|url=https://pubmed.ncbi.nlm.nih.gov/17145595\|journal=Haematologica\|volume=91\|issue=12\|pages=1596–1604\|issn=1592-8721\|pmid=17145595}}</ref>.

			<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>

	Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype		Gain of chromosome 8, del(5q) or t(5q), monosomy 7, del(7q), del(20q), complex karyotype

			<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>

	Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS''		Most frequent mutations: ''SRSF2, IDH1, IDH2, ASXL1, CBL, RUNX1, RAS''
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	None		None

			<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>

	*''SRSF2'': involved in pre-mRNA splicing		*''SRSF2'': involved in pre-mRNA splicing
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	*''RAS'': involved in RAS/MAPK pathway		*''RAS'': involved in RAS/MAPK 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 22:17, 6 September 2024

2024-09-06T22:17:22Z

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

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

	Myelodysplastic ~~Syndrome~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification /~~ Subtype==		!Disease
			\|-
	Myelodysplastic ~~Syndrome~~ with ~~excess~~ blasts ~~(MDS-EB)~~		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Myelodysplastic neoplasms
			\|-
			\|Type
			\|Myelodysplastic neoplasms, morphologically defined
			\|-
			\|Subtype(s)
			\|Myelodysplastic neoplasm with increased blasts
			\|}

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

Bailey.Glen at 22:04, 6 September 2024

2024-09-06T22:04:05Z

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Bailey.Glen at 19:33, 13 December 2023

2023-12-13T19:33:13Z

← Older revision		Revision as of 14:33, 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:Myelodysplastic Syndrome (MDS) with Excess Blasts]].		<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:Myelodysplastic Syndrome (MDS) with Excess Blasts]].
	}}</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)*==
	Xiaoli Du, Ph.D; Teresa A. Smolarek, Ph.D, FACMG		Xiaoli Du, Ph.D; Teresa A. Smolarek, Ph.D, FACMG