HAEM5:Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis - Revision history

Bailey.Glen at 17:23, 3 July 2025

2025-07-03T17:23:23Z

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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

2025-05-25T21:42:51Z

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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 20:19, 25 May 2025

2025-05-25T20:19:11Z

← Older revision		Revision as of 15:19, 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
	\|		\|Myelodysplastic/myeloproliferative neoplasm (MDS/MPN) with ring sideroblasts and thrombocytosis
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Refractory anaemia with ring sideroblasts associated with marked thrombocytosis
	\|}		\|}

Bailey.Glen at 17:41, 24 March 2025

2025-03-24T17:41:46Z

← Older revision		Revision as of 12:41, 24 March 2025
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	{{DISPLAYTITLE:Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis}}		{{DISPLAYTITLE:Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis}}

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

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	Anamaria Munteanu, MD, Ph.D, Harbor-UCLA Medical Center, Fabiola Quintero-Rivera, University of California Irvine		Anamaria Munteanu, MD, Ph.D, Harbor-UCLA Medical Center, Fabiola Quintero-Rivera, University of California Irvine

	~~__TOC__~~

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

Bailey.Glen: Removed old template contents

2025-02-11T13:24:50Z

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Bailey.Glen at 18:54, 10 February 2025

2025-02-10T18:54:20Z

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Bailey.Glen at 18:26, 10 February 2025

2025-02-10T18:26:17Z

← Older revision		Revision as of 13:26, 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>

	Symptoms and clinical features are related to anemia, iron overload and thrombocytosis. Thrombocytemia manifests with thrombosis/hemorrhage. Differential diagnosis for thrombocytosis is Essential Thromocytopenia (ET) or reactive thrombocytosis.		Symptoms and clinical features are related to anemia, iron overload and thrombocytosis. Thrombocytemia manifests with thrombosis/hemorrhage. Differential diagnosis for thrombocytosis is Essential Thromocytopenia (ET) or reactive thrombocytosis.
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	Ring sideroblasts are abnormal erythroid lineage precursors with increased mitochondrial iron deposits forming siderotic granules. A minimum of five distinct siderotic granules must be present, involving at least one third of the nuclear circumference.		Ring sideroblasts are abnormal erythroid lineage precursors with increased mitochondrial iron deposits forming siderotic granules. A minimum of five distinct siderotic granules must be present, involving at least one third of the nuclear circumference.

			<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>

	No chromosomal rearrangements for MDS/MPN-RS-T		No chromosomal rearrangements for MDS/MPN-RS-T
			<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>

	The presence of SF3B1 and JAK2 mutations is correlated with better prognosis and longer survival. Mutations in ASXL1, SETBP1 and EZH2 have negative prognostic significance <ref name=":2" /><ref name=":3" />. Abnormal karyotypes, although rare, correlate with very poor outcome <ref name=":3" />. Disease outcome: overall survival is better than in patients with MDS-RS-SLD, but worse than in patients with MPN-ET. There is low risk of converging to leukemic forms.<ref name=":0" /><ref name=":2" />		The presence of SF3B1 and JAK2 mutations is correlated with better prognosis and longer survival. Mutations in ASXL1, SETBP1 and EZH2 have negative prognostic significance <ref name=":2" /><ref name=":3" />. Abnormal karyotypes, although rare, correlate with very poor outcome <ref name=":3" />. Disease outcome: overall survival is better than in patients with MDS-RS-SLD, but worse than in patients with MPN-ET. There is low risk of converging to leukemic forms.<ref name=":0" /><ref name=":2" />
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	Treatment: transfusions, recombinant human erythropoietin for anemia. The use of Lenalidomide is controversial, while, the use of Luspatercept- a novel erythroid maturation agent is not an established treatment option. Aspirin for thrombocytosis. Hydroxyurea is the preferred cytoreductive agent <ref name=":2" />		Treatment: transfusions, recombinant human erythropoietin for anemia. The use of Lenalidomide is controversial, while, the use of Luspatercept- a novel erythroid maturation agent is not an established treatment option. Aspirin for thrombocytosis. Hydroxyurea is the preferred cytoreductive agent <ref name=":2" />

			<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>

	No genomic gain/loss for MDS/MPN-RS-T		No genomic gain/loss for MDS/MPN-RS-T
			<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>

	No recurrent chromosomal aberrations for MDS/MPN-RS-T. However, abnormalities have been reported in 10% of patients. Trisomy 8 and loss of Y are the most common changes.<ref name=":3" />		No recurrent chromosomal aberrations for MDS/MPN-RS-T. However, abnormalities have been reported in 10% of patients. Trisomy 8 and loss of Y are the most common changes.<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>

	The presence of concomitant mutations in SF3B1 and JAK2 V617F support the diagnosis of MDS/MPN-RS-T; less commonly encountered are SF3B1 and CALR or SF3B1 and MPL <ref>{{Cite journal\|last=S\|first=Jeromin\|last2=T\|first2=Haferlach\|last3=S\|first3=Weissmann\|last4=M\|first4=Meggendorfer\|last5=C\|first5=Eder\|last6=N\|first6=Nadarajah\|last7=T\|first7=Alpermann\|last8=A\|first8=Kohlmann\|last9=W\|first9=Kern\|date=2015\|title=Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations\|url=https://pubmed.ncbi.nlm.nih.gov/25527566/\|language=en\|doi=10.3324/haematol.2014.119032\|pmc=PMC4380732\|pmid=25527566}}</ref><ref name=":3">{{Cite journal\|last=L\|first=Palomo\|last2=M\|first2=Meggendorfer\|last3=S\|first3=Hutter\|last4=S\|first4=Twardziok\|last5=V\|first5=Adema\|last6=I\|first6=Fuhrmann\|last7=F\|first7=Fuster-Tormo\|last8=B\|first8=Xicoy\|last9=L\|first9=Zamora\|date=2020\|title=Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/32573691/\|language=en\|pmid=32573691}}</ref>.		The presence of concomitant mutations in SF3B1 and JAK2 V617F support the diagnosis of MDS/MPN-RS-T; less commonly encountered are SF3B1 and CALR or SF3B1 and MPL <ref>{{Cite journal\|last=S\|first=Jeromin\|last2=T\|first2=Haferlach\|last3=S\|first3=Weissmann\|last4=M\|first4=Meggendorfer\|last5=C\|first5=Eder\|last6=N\|first6=Nadarajah\|last7=T\|first7=Alpermann\|last8=A\|first8=Kohlmann\|last9=W\|first9=Kern\|date=2015\|title=Refractory anemia with ring sideroblasts and marked thrombocytosis cases harbor mutations in SF3B1 or other spliceosome genes accompanied by JAK2V617F and ASXL1 mutations\|url=https://pubmed.ncbi.nlm.nih.gov/25527566/\|language=en\|doi=10.3324/haematol.2014.119032\|pmc=PMC4380732\|pmid=25527566}}</ref><ref name=":3">{{Cite journal\|last=L\|first=Palomo\|last2=M\|first2=Meggendorfer\|last3=S\|first3=Hutter\|last4=S\|first4=Twardziok\|last5=V\|first5=Adema\|last6=I\|first6=Fuhrmann\|last7=F\|first7=Fuster-Tormo\|last8=B\|first8=Xicoy\|last9=L\|first9=Zamora\|date=2020\|title=Molecular landscape and clonal architecture of adult myelodysplastic/myeloproliferative neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/32573691/\|language=en\|pmid=32573691}}</ref>.
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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>

	SF3B1 gene mutations are present in over 80% of patients <ref name=":2" />. Somatic mutation in SF3B1 leads to abnormal ABCB7 protein, accumulation of mitochondrial iron and ineffective erythropoiesis, with formation of ring sideroblasts<ref>{{Cite journal\|last=M\|first=Cazzola\|last2=M\|first2=Rossi\|last3=L\|first3=Malcovati\|date=2013\|title=Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/23160465/\|language=en\|doi=10.1182/blood-2012-09-399725\|pmc=PMC3790951\|pmid=23160465}}</ref>. Mutations in JAK2 correlate with increased platelet count.<ref name=":3" />		SF3B1 gene mutations are present in over 80% of patients <ref name=":2" />. Somatic mutation in SF3B1 leads to abnormal ABCB7 protein, accumulation of mitochondrial iron and ineffective erythropoiesis, with formation of ring sideroblasts<ref>{{Cite journal\|last=M\|first=Cazzola\|last2=M\|first2=Rossi\|last3=L\|first3=Malcovati\|date=2013\|title=Biologic and clinical significance of somatic mutations of SF3B1 in myeloid and lymphoid neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/23160465/\|language=en\|doi=10.1182/blood-2012-09-399725\|pmc=PMC3790951\|pmid=23160465}}</ref>. Mutations in JAK2 correlate with increased platelet count.<ref name=":3" />

			<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

2024-09-06T22:17:40Z

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	__TOC__		__TOC__

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

	~~Tumors of hematopoietic~~ and ~~lymphoid tissue~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification~~ / Subtype==		!Disease
			\|-
	~~MDS/MPN overlap syndromes~~		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Myelodysplastic/myeloproliferative neoplasms
			\|-
			\|Type
			\|N/A
			\|-
			\|Subtype(s)
			\|Myelodysplastic/myeloproliferative neoplasm with SF3B1 mutation and thrombocytosis
			\|}

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

Bailey.Glen at 22:04, 6 September 2024

2024-09-06T22:04:57Z

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Bailey.Glen at 19:33, 13 December 2023

2023-12-13T19:33:09Z

← 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/Myeloproliferative Neoplasms with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)]].		<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/Myeloproliferative Neoplasms with Ring Sideroblasts and Thrombocytosis (MDS/MPN-RS-T)]].
	}}</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)*==