HAEM5:Chronic myelomonocytic leukaemia - Revision history

Bailey.Glen at 17:12, 3 July 2025

2025-07-03T17:12:25Z

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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 21:31, 25 May 2025

2025-05-25T21:31:53Z

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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 20:08, 25 May 2025

2025-05-25T20:08:11Z

← Older revision		Revision as of 15:08, 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
	\|		\|N/A
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|N/A
	\|}		\|}

Bailey.Glen at 17:34, 24 March 2025

2025-03-24T17:34:47Z

← Older revision		Revision as of 12:34, 24 March 2025
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	{{DISPLAYTITLE:Chronic myelomonocytic leukaemia}}		{{DISPLAYTITLE:Chronic myelomonocytic leukaemia}}

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

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	Linsheng Zhang, MD, PhD		Linsheng Zhang, MD, PhD

	~~__TOC__~~

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

Bailey.Glen: Removed old template contents

2025-02-11T13:22:03Z

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Bailey.Glen at 18:43, 10 February 2025

2025-02-10T18:43:22Z

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Bailey.Glen at 18:15, 10 February 2025

2025-02-10T18:15:15Z

← Older revision		Revision as of 13:15, 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 variable and significantly related to blood cell counts<ref name=":1" /><ref name=":2">Arber DA, et al., (2017). Introduction and overview of the classification of myeloid neoplasms, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Editors. IARC Press: Lyon, France, p82-86.</ref>. Some clinical presentations may be different in dysplastic (WBC count < 13 x 10<sup>9</sup>/L) and proliferative (WBC count ≥ 13 x 10<sup>9</sup>/L) subgroups<ref name=":0" />. In patients with increased white blood cell (WBC) count (~50% of all cases), constitutional symptoms (e.g. weight loss, fever, and night sweats) are common. In cases with cytopenia(s), similar to [[HAEM4:Myelodysplastic Syndromes (MDS)\|MDS]], clinical presentations are usually related to insufficient blood cells (anemia, leukopenia and/or thrombocytopenia, e.g. fatigue, infection, and bleeding tendency)<ref>Storniolo AM, Moloney WC, Rosenthal DS, Cox C, Bennett JM. Chronic myelomonocytic leukemia. ''Leukemia''. 1990;4(11):766‐770.</ref>. Hepatosplenomegaly can be present in both subgroups, but are frequently related to leukocytosis. Rare cases with life-threatening hyperleukocytosis have been reported.		The clinical features are variable and significantly related to blood cell counts<ref name=":1" /><ref name=":2">Arber DA, et al., (2017). Introduction and overview of the classification of myeloid neoplasms, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Editors. IARC Press: Lyon, France, p82-86.</ref>. Some clinical presentations may be different in dysplastic (WBC count < 13 x 10<sup>9</sup>/L) and proliferative (WBC count ≥ 13 x 10<sup>9</sup>/L) subgroups<ref name=":0" />. In patients with increased white blood cell (WBC) count (~50% of all cases), constitutional symptoms (e.g. weight loss, fever, and night sweats) are common. In cases with cytopenia(s), similar to [[HAEM4:Myelodysplastic Syndromes (MDS)\|MDS]], clinical presentations are usually related to insufficient blood cells (anemia, leukopenia and/or thrombocytopenia, e.g. fatigue, infection, and bleeding tendency)<ref>Storniolo AM, Moloney WC, Rosenthal DS, Cox C, Bennett JM. Chronic myelomonocytic leukemia. ''Leukemia''. 1990;4(11):766‐770.</ref>. Hepatosplenomegaly can be present in both subgroups, but are frequently related to leukocytosis. Rare cases with life-threatening hyperleukocytosis have been reported.

			<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 chromosome rearrangements specifically associated with CMML.		No chromosome rearrangements specifically associated with CMML.

	By definition, the presence of ''BCR-ABL1''1 or rearrangements involving ''PDGFRA, PDGFRB'' or ''FGFR1'' and ''PCM1-JAK2'' defines categories other than CMML.		By definition, the presence of ''BCR-ABL1''1 or rearrangements involving ''PDGFRA, PDGFRB'' or ''FGFR1'' and ''PCM1-JAK2'' defines categories other than CMML.
			<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>

	Presence of one or more mutations, especially concurrent mutations in ''TET2'' and ''SRSF2'' is very helpful for a definitive diagnosis.		Presence of one or more mutations, especially concurrent mutations in ''TET2'' and ''SRSF2'' is very helpful for a definitive diagnosis.
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	Somatic ''ASXL1'' mutation has also been incorporated in a clinical prognostic scoring system<ref name=":6" />.		Somatic ''ASXL1'' mutation has also been incorporated in a clinical prognostic scoring system<ref name=":6" />.

			<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>

	Clonal cytogenetic abnormalities are found in 20-40% of CMML cases, but there are no specific abnormalities<ref>{{Cite journal\|last=Such\|first=E.\|last2=Cervera\|first2=J.\|last3=Costa\|first3=D.\|last4=Sole\|first4=F.\|last5=Vallespi\|first5=T.\|last6=Luno\|first6=E.\|last7=Collado\|first7=R.\|last8=Calasanz\|first8=M. J.\|last9=Hernandez-Rivas\|first9=J. M.\|date=2011\|title=Cytogenetic risk stratification in chronic myelomonocytic leukemia\|url=http://www.haematologica.org/cgi/doi/10.3324/haematol.2010.030957\|journal=Haematologica\|language=en\|volume=96\|issue=3\|pages=375–383\|doi=10.3324/haematol.2010.030957\|issn=0390-6078\|pmc=PMC3046268\|pmid=21109693}}</ref>.		Clonal cytogenetic abnormalities are found in 20-40% of CMML cases, but there are no specific abnormalities<ref>{{Cite journal\|last=Such\|first=E.\|last2=Cervera\|first2=J.\|last3=Costa\|first3=D.\|last4=Sole\|first4=F.\|last5=Vallespi\|first5=T.\|last6=Luno\|first6=E.\|last7=Collado\|first7=R.\|last8=Calasanz\|first8=M. J.\|last9=Hernandez-Rivas\|first9=J. M.\|date=2011\|title=Cytogenetic risk stratification in chronic myelomonocytic leukemia\|url=http://www.haematologica.org/cgi/doi/10.3324/haematol.2010.030957\|journal=Haematologica\|language=en\|volume=96\|issue=3\|pages=375–383\|doi=10.3324/haematol.2010.030957\|issn=0390-6078\|pmc=PMC3046268\|pmid=21109693}}</ref>.
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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>

	No characteristic chromosome aberrations identified in association with CMML.		No characteristic chromosome aberrations identified in association with CMML.

			<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>

	Over 90% of CMML patients studied exhibited one or more mutations<ref name=":2" />. Concurrent mutations in ''TET2'' and ''SRSF2'' appear to be highly specific for this entity<ref name=":3">{{Cite journal\|last=Ti\|first=Mughal\|last2=Nc\|first2=Cross\|last3=E\|first3=Padron\|last4=Rv\|first4=Tiu\|last5=M\|first5=Savona\|last6=L\|first6=Malcovati\|last7=R\|first7=Tibes\|last8=Rs\|first8=Komrokji\|last9=Jj\|first9=Kiladjian\|date=2015\|title=An International MDS/MPN Working Group's Perspective and Recommendations on Molecular Pathogenesis, Diagnosis and Clinical Characterization of Myelodysplastic/Myeloproliferative Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/26341525/\|language=en\|doi=10.3324/haematol.2014.114660\|pmc=PMC4800699\|pmid=26341525}}</ref><ref>{{Cite journal\|last=Gelsi-Boyer\|first=Véronique\|last2=Trouplin\|first2=Virginie\|last3=Adélaïde\|first3=José\|last4=Aceto\|first4=Nicola\|last5=Remy\|first5=Virginie\|last6=Pinson\|first6=Stephane\|last7=Houdayer\|first7=Claude\|last8=Arnoulet\|first8=Christine\|last9=Sainty\|first9=Danielle\|date=2008\|title=Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes\|url=http://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-8-299\|journal=BMC Cancer\|language=en\|volume=8\|issue=1\|doi=10.1186/1471-2407-8-299\|issn=1471-2407\|pmc=PMC2588460\|pmid=18925961}}</ref>. Mutations in certain pathways correlated with clinical classification (dysplastic vs. proliferative)<ref name=":7">{{Cite journal\|last=Patel\|first=B J\|last2=Przychodzen\|first2=B\|last3=Thota\|first3=S\|last4=Radivoyevitch\|first4=T\|last5=Visconte\|first5=V\|last6=Kuzmanovic\|first6=T\|last7=Clemente\|first7=M\|last8=Hirsch\|first8=C\|last9=Morawski\|first9=A\|date=2017\|title=Genomic determinants of chronic myelomonocytic leukemia\|url=http://www.nature.com/articles/leu2017164\|journal=Leukemia\|language=en\|volume=31\|issue=12\|pages=2815–2823\|doi=10.1038/leu.2017.164\|issn=0887-6924}}</ref>.		Over 90% of CMML patients studied exhibited one or more mutations<ref name=":2" />. Concurrent mutations in ''TET2'' and ''SRSF2'' appear to be highly specific for this entity<ref name=":3">{{Cite journal\|last=Ti\|first=Mughal\|last2=Nc\|first2=Cross\|last3=E\|first3=Padron\|last4=Rv\|first4=Tiu\|last5=M\|first5=Savona\|last6=L\|first6=Malcovati\|last7=R\|first7=Tibes\|last8=Rs\|first8=Komrokji\|last9=Jj\|first9=Kiladjian\|date=2015\|title=An International MDS/MPN Working Group's Perspective and Recommendations on Molecular Pathogenesis, Diagnosis and Clinical Characterization of Myelodysplastic/Myeloproliferative Neoplasms\|url=https://pubmed.ncbi.nlm.nih.gov/26341525/\|language=en\|doi=10.3324/haematol.2014.114660\|pmc=PMC4800699\|pmid=26341525}}</ref><ref>{{Cite journal\|last=Gelsi-Boyer\|first=Véronique\|last2=Trouplin\|first2=Virginie\|last3=Adélaïde\|first3=José\|last4=Aceto\|first4=Nicola\|last5=Remy\|first5=Virginie\|last6=Pinson\|first6=Stephane\|last7=Houdayer\|first7=Claude\|last8=Arnoulet\|first8=Christine\|last9=Sainty\|first9=Danielle\|date=2008\|title=Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1genes\|url=http://bmccancer.biomedcentral.com/articles/10.1186/1471-2407-8-299\|journal=BMC Cancer\|language=en\|volume=8\|issue=1\|doi=10.1186/1471-2407-8-299\|issn=1471-2407\|pmc=PMC2588460\|pmid=18925961}}</ref>. Mutations in certain pathways correlated with clinical classification (dysplastic vs. proliferative)<ref name=":7">{{Cite journal\|last=Patel\|first=B J\|last2=Przychodzen\|first2=B\|last3=Thota\|first3=S\|last4=Radivoyevitch\|first4=T\|last5=Visconte\|first5=V\|last6=Kuzmanovic\|first6=T\|last7=Clemente\|first7=M\|last8=Hirsch\|first8=C\|last9=Morawski\|first9=A\|date=2017\|title=Genomic determinants of chronic myelomonocytic leukemia\|url=http://www.nature.com/articles/leu2017164\|journal=Leukemia\|language=en\|volume=31\|issue=12\|pages=2815–2823\|doi=10.1038/leu.2017.164\|issn=0887-6924}}</ref>.
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	The clonal evolution and secondary subclonal hierarchy may be correlated with clinical phenotypes or outcomes<ref name=":7" />.		The clonal evolution and secondary subclonal hierarchy may be correlated with clinical phenotypes or outcomes<ref name=":7" />.

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

Bailey.Glen at 22:17, 6 September 2024

2024-09-06T22:17:33Z

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

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

	~~Myeloid Neoplasm~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification / Subtype==~~		!Disease
			\|-
	~~[[HAEM4:Myelodysplastic/Myeloproliferative Neoplasms~~ (~~MDS/MPN~~)\|Myelodysplastic/~~Myeloproliferative Neoplasm~~ (~~MDS/MPN~~)]]		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Myeloid proliferations and neoplasms
			\|-
			\|Family
			\|Myelodysplastic/myeloproliferative neoplasms
			\|-
			\|Type
			\|N/A
			\|-
			\|Subtype(s)
			\|Chronic myelomonocytic leukaemia
			\|}

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

Bailey.Glen at 21:53, 6 September 2024

2024-09-06T21:53:58Z

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Bailey.Glen: Undo revision 14843 by Bailey.Glen (talk)

2024-09-04T00:26:07Z

Undo revision 14843 by Bailey.Glen (talk)

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