HAEM5:Juvenile myelomonocytic leukaemia - Revision history

Bailey.Glen at 17:18, 3 July 2025

2025-07-03T17:18:27Z

← Older revision		Revision as of 12:18, 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 21:38, 25 May 2025

2025-05-25T21:38:43Z

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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 20:14, 25 May 2025

2025-05-25T20:14:13Z

← Older revision		Revision as of 15:14, 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
	\|		\|Juvenile chronic myeloid leukaemia; infantile monosomy 7 syndrome
	\|}		\|}

Bailey.Glen at 17:38, 24 March 2025

2025-03-24T17:38:46Z

← Older revision		Revision as of 12:38, 24 March 2025
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	{{DISPLAYTITLE:Juvenile myelomonocytic leukaemia}}		{{DISPLAYTITLE:Juvenile 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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	Duke University Health System Clinical Laboratories		Duke University Health System Clinical Laboratories

	~~__TOC__~~

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

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2025-02-11T13:04:09Z

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Bailey.Glen at 18:49, 10 February 2025

2025-02-10T18:49:23Z

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Bailey.Glen at 18:21, 10 February 2025

2025-02-10T18:21:18Z

← Older revision		Revision as of 13:21, 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>

	Children with JMML typically present with symptoms related to infiltration of the bone marrow and other organs. Approximately one half of all patients have lymphadenopathy (WHO), and one-third of children will have an acute presentation with fever, signs of upper respiratory infection, organomegaly, and cutaneous findings (Caywood and Kolb, UpToDate).		Children with JMML typically present with symptoms related to infiltration of the bone marrow and other organs. Approximately one half of all patients have lymphadenopathy (WHO), and one-third of children will have an acute presentation with fever, signs of upper respiratory infection, organomegaly, and cutaneous findings (Caywood and Kolb, UpToDate).

			<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>

	Chromosomal translocations resulting in fusion genes have been only rarely reported in JMML patients with monosomy 7 (without mutations in the canonical RAS pathway)<ref>{{Cite journal\|last=Meynier\|first=Sonia\|last2=Rieux-Laucat\|first2=Frédéric\|date=2020-09\|title=After 95 years, it's time to eRASe JMML\|url=https://pubmed.ncbi.nlm.nih.gov/31980238\|journal=Blood Reviews\|volume=43\|pages=100652\|doi=10.1016/j.blre.2020.100652\|issn=1532-1681\|pmid=31980238}}</ref>.		Chromosomal translocations resulting in fusion genes have been only rarely reported in JMML patients with monosomy 7 (without mutations in the canonical RAS pathway)<ref>{{Cite journal\|last=Meynier\|first=Sonia\|last2=Rieux-Laucat\|first2=Frédéric\|date=2020-09\|title=After 95 years, it's time to eRASe JMML\|url=https://pubmed.ncbi.nlm.nih.gov/31980238\|journal=Blood Reviews\|volume=43\|pages=100652\|doi=10.1016/j.blre.2020.100652\|issn=1532-1681\|pmid=31980238}}</ref>.
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	<br />		<br />
			<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 progression of JMML is variable. While some studies identify a prognostic difference based on the molecular driver mutation, with ''PTPN11, KRAS,'' and ''NRAS'' mutations showing a more aggressive disease course (WHO: Baumann I et al), another report identified the number of mutations present at diagnosis (rather than the type of mutations), as a prognostic factor, with patients harboring two or more somatic alterations at diagnosis having worst event-free and overall survival rates than those with one or no mutations (Stieglitz E et al, <nowiki>PMID 26457647</nowiki>). Spontaneous regression of JMML is observed in most children with ''CBL'' mutations. The only curative treatment is allogeneic stem cell transplant, with a 5-year event free survival of approximately 44-53% (Meynier S and Rieux-Laucat, <nowiki>PMID 31980238</nowiki>).		The progression of JMML is variable. While some studies identify a prognostic difference based on the molecular driver mutation, with ''PTPN11, KRAS,'' and ''NRAS'' mutations showing a more aggressive disease course (WHO: Baumann I et al), another report identified the number of mutations present at diagnosis (rather than the type of mutations), as a prognostic factor, with patients harboring two or more somatic alterations at diagnosis having worst event-free and overall survival rates than those with one or no mutations (Stieglitz E et al, <nowiki>PMID 26457647</nowiki>). Spontaneous regression of JMML is observed in most children with ''CBL'' mutations. The only curative treatment is allogeneic stem cell transplant, with a 5-year event free survival of approximately 44-53% (Meynier S and Rieux-Laucat, <nowiki>PMID 31980238</nowiki>).

			<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: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>
	{\| class="wikitable"		{\| class="wikitable"
	\|'''Prevalence'''		\|'''Prevalence'''
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	<br />		<br />
			<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>

	Frequent gene mutations<ref>{{Cite journal\|last=Niemeyer\|first=Charlotte M.\|date=2018-11-30\|title=JMML genomics and decisions\|url=https://pubmed.ncbi.nlm.nih.gov/30504325\|journal=Hematology. American Society of Hematology. Education Program\|volume=2018\|issue=1\|pages=307–312\|doi=10.1182/asheducation-2018.1.307\|issn=1520-4383\|pmc=6245977\|pmid=30504325}}</ref> are summarized below:		Frequent gene mutations<ref>{{Cite journal\|last=Niemeyer\|first=Charlotte M.\|date=2018-11-30\|title=JMML genomics and decisions\|url=https://pubmed.ncbi.nlm.nih.gov/30504325\|journal=Hematology. American Society of Hematology. Education Program\|volume=2018\|issue=1\|pages=307–312\|doi=10.1182/asheducation-2018.1.307\|issn=1520-4383\|pmc=6245977\|pmid=30504325}}</ref> are summarized below:
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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>

	Molecular driver mutations within the RAS signaling pathway genes ''PTPN11'', ''NRAS'', ''KRAS'', ''NF1'', and ''CBL'' are identified in 85-90% of patients with JMML.		Molecular driver mutations within the RAS signaling pathway genes ''PTPN11'', ''NRAS'', ''KRAS'', ''NF1'', and ''CBL'' are identified in 85-90% of patients with JMML.

			<blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
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	</blockquote>		</blockquote>
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==
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	<blockquote class='blockedit'>{{Box-round\|title=Unassigned References\|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}<ref>{{Cite journal\|last=Arber\|first=Daniel A.\|last2=Orazi\|first2=Attilio\|last3=Hasserjian\|first3=Robert P.\|last4=Borowitz\|first4=Michael J.\|last5=Calvo\|first5=Katherine R.\|last6=Kvasnicka\|first6=Hans-Michael\|last7=Wang\|first7=Sa A.\|last8=Bagg\|first8=Adam\|last9=Barbui\|first9=Tiziano\|date=2022-09-15\|title=International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data\|url=https://pubmed.ncbi.nlm.nih.gov/35767897\|journal=Blood\|volume=140\|issue=11\|pages=1200–1228\|doi=10.1182/blood.2022015850\|issn=1528-0020\|pmc=9479031\|pmid=35767897}}</ref></blockquote>		<blockquote class='blockedit'>{{Box-round\|title=Unassigned References\|The following referenees were placed in the header. Please place them into the appropriate locations in the text.}}</blockquote><ref>{{Cite journal\|last=Arber\|first=Daniel A.\|last2=Orazi\|first2=Attilio\|last3=Hasserjian\|first3=Robert P.\|last4=Borowitz\|first4=Michael J.\|last5=Calvo\|first5=Katherine R.\|last6=Kvasnicka\|first6=Hans-Michael\|last7=Wang\|first7=Sa A.\|last8=Bagg\|first8=Adam\|last9=Barbui\|first9=Tiziano\|date=2022-09-15\|title=International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: integrating morphologic, clinical, and genomic data\|url=https://pubmed.ncbi.nlm.nih.gov/35767897\|journal=Blood\|volume=140\|issue=11\|pages=1200–1228\|doi=10.1182/blood.2022015850\|issn=1528-0020\|pmc=9479031\|pmid=35767897}}</ref><blockquote class="blockedit">
			<center><span style="color:Maroon">'''End of V4 Section'''</span>
			----
			</blockquote>
	==Familial Forms==		==Familial Forms==

Bailey.Glen at 22:16, 6 September 2024

2024-09-06T22:16:17Z

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

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

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

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

Bailey.Glen at 22:00, 6 September 2024

2024-09-06T22:00:48Z

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Bailey.Glen at 19:29, 13 December 2023

2023-12-13T19:29:09Z

← Older revision		Revision as of 14:29, 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:Juvenile Myelomonocytic Leukemia (JMML)]].		<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:Juvenile Myelomonocytic Leukemia (JMML)]].
	}}</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)*==