HAEM5:Rosai-Dorfman Disease - Revision history

Bailey.Glen at 17:29, 3 July 2025

2025-07-03T17:29:25Z

← Older revision		Revision as of 12:29, 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 21:48, 25 May 2025

2025-05-25T21:48:52Z

← Older revision		Revision as of 16:48, 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 20:25, 25 May 2025

2025-05-25T20:25:13Z

← Older revision		Revision as of 15:25, 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
	\|		\|Rosai–Dorfman–Destombes disease
	\|-		\|-
	\|Not Recommended		\|Not Recommended
	\|		\|Sinus histiocytosis with massive lymphadenopathy
	\|}		\|}

Bailey.Glen at 17:45, 24 March 2025

2025-03-24T17:45:47Z

← Older revision		Revision as of 12:45, 24 March 2025
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	{{DISPLAYTITLE:Rosai-Dorfman Disease}}		{{DISPLAYTITLE:Rosai-Dorfman Disease}}

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

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	Scott Turner, PhD<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>		Scott Turner, PhD<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>

	~~__TOC__~~

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

Jennelleh: /* References */

2025-02-28T13:21:16Z

References

Jennelleh at 13:13, 28 February 2025

2025-02-28T13:13:01Z

@@ Line 35: / Line 35: @@
 |Subtype(s)
 |Rosai-Dorfman Disease
 |}
@@ Line 357: / Line 296: @@
 ==Additional Information==
-Put your text here
+This disease is <u>defined/characterized</u> as detailed below:
 ==Links==

Bailey.Glen at 19:00, 10 February 2025

2025-02-10T19:00:22Z

Show changes

Mayuri.Shende at 00:13, 10 October 2024

2024-10-10T00:13:00Z

← Older revision		Revision as of 19:13, 9 October 2024
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	{{DISPLAYTITLE:Rosai-Dorfman Disease}}		{{DISPLAYTITLE:Rosai-Dorfman Disease}}

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

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	==Primary Author(s)*==		==Primary Author(s)*==

	~~Put your text here~~<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>		Mayuri Shende, MBBS, DCP, FCPS, DNB, ASCP-SH CM

			Scott Turner, PhD<span style="color:#0070C0"> (''<span class="blue-text">EXAMPLE:</span>'' Jane Smith, PhD) </span>

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

	~~Put your text here~~ <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>		Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis.<span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'')</span>

	==Synonyms / Terminology==		==Synonyms / Terminology==

	~~Put your text here~~ <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>		Rosai–Dorfman disease (RDD) <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>

	==Epidemiology / Prevalence==		==Epidemiology / Prevalence==

	~~Put your text here~~		Rare, occurs in people of all ethnicity, more common in African descent with male predilection. Exception is cutaneous RDD which is more common in Asian women. Nodal RDD occurs in 2nd-3rd decades of life whereas extranodal occurs later in 5th decade. Rare inherited disorders associated with germline mutations in the nucleoside transporter gene ''SLC29A3'' (H syndrome / Faisalabad histiocytosis), and FAS deficiency with heterozygous germline mutations in ''FAS'' (''TNFRSF6'') (autoimmune lymphoproliferative syndrome) predispose to familial RDD.

	==Clinical Features==		==Clinical Features==
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	{\| class="wikitable"		{\| class="wikitable"
	\|'''Signs and Symptoms'''		\|'''Signs and Symptoms'''
	\|~~<span class="blue~~-~~text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)~~		\|painless, slow-growing lymphadenopathy
			B-symptoms may be present in 1/3rd of patients
	~~<span class="blue-text">EXAMPLE:</span>~~ B-symptoms ~~(weight loss, fever, night sweats)~~

	~~<span class="blue-text">EXAMPLE:</span> Fatigue~~

	~~<span class="blue-text">EXAMPLE:<~~/~~span> Lymphadenopathy (uncommon)~~
	\|-		\|-
	\|'''Laboratory Findings'''		\|'''Laboratory Findings'''
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	==Sites of Involvement==		==Sites of Involvement==

	~~Put your text here~~ <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>		Nodal: Cervical region lymph nodes.

			Extranodal: Mostly head and neck, skin, and CNS <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>

	==Morphologic Features==		==Morphologic Features==

	~~Put your text here~~		Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses.

			Histopathology:

			* Lymph nodes with sinus expansion shows RDD cells- distinctive large histiocytes with emperipolesis (the presence of intact lymphocytes, but also plasma cells, neutrophils, and erythrocytes within the histiocyte cytoplasm)
			* Mixed infiltration by small B cells, T cells and numerous polytypic plasma cells.

	==Immunophenotype==		==Immunophenotype==
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	!Finding!!Marker		!Finding!!Marker
	\|-		\|-
	\|Positive (universal)\|\|~~<span class="blue~~-~~text">EXAMPLE:</span> CD1~~		\|Positive (universal)\|\|S100-highlights emperipolesis
			OCT2, phosphorylated ERK and cyclin D1

			CD68 and CD163
	\|-		\|-
	\|Positive (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD2		\|Positive (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD2
	\|-		\|-
	\|Negative (universal)\|\|~~<span class="blue-text">EXAMPLE:</span> CD3~~		\|Negative (universal)\|\|CD1a and CD207 (langerin)
	\|-		\|-
	\|Negative (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD4		\|Negative (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD4
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	!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome		!Gene; Genetic Alteration!!Pathway!!Pathophysiologic Outcome
	\|-		\|-
	\|~~<span class="blue~~-~~text">EXAMPLE:</span> BRAF and MAP2K1; Activating~~ mutations		\|gain-of-function mutations
	\|~~<span class="blue-text">EXAMPLE:<~~/~~span> MAPK signaling~~		\|MAPK/ERK pathway
	\|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation		\|<span class="blue-text">EXAMPLE:</span> Increased cell growth and proliferation
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span> CDKN2A; Inactivating mutations~~		\|''KRAS'', ''NRAS'', ''MAP2K1'', ''ARAF'', ''CSF1R'', and (rarely) ''BRAF'' p.V600E
	\|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation		\|<span class="blue-text">EXAMPLE:</span> Cell cycle regulation
	\|<span class="blue-text">EXAMPLE:</span> Unregulated cell division		\|<span class="blue-text">EXAMPLE:</span> Unregulated cell division
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	\|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling		\|<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling
	\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program		\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
	\|}		\|}<br />
	==Genetic Diagnostic Testing Methods==		==Genetic Diagnostic Testing Methods==

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	'''EXAMPLE Book'''		'''EXAMPLE Book'''

	#~~Arber DA~~, et al., ~~(2017). Acute myeloid leukaemia with recurrent genetic abnormalities~~, 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, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors~~. ~~IARC Press~~: ~~Lyon, France, p129-171~~.		#John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>.

	==Notes==		==Notes==
	<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.		<nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.
	<nowiki>*</nowiki>''Citation of this Page'': “Rosai-Dorfman Disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Rosai-Dorfman_Disease</nowiki>.		<nowiki>*</nowiki>''Citation of this Page'': “Rosai-Dorfman Disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Rosai-Dorfman_Disease</nowiki>.
	[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases R]]		[[Category:HAEM5]]
			[[Category:DISEASE]]
			[[Category:Diseases R]]

Bailey.Glen at 22:24, 6 September 2024

2024-09-06T22:24:27Z

← Older revision		Revision as of 17:24, 6 September 2024
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	__TOC__		__TOC__

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

	~~Put your text here~~		{\| class="wikitable"
			!Structure
	~~==Cancer Sub~~-~~Classification~~ / Subtype==		!Disease
			\|-
	~~Put your text here~~		\|Book
			\|Haematolymphoid Tumours (5th ed.)
			\|-
			\|Category
			\|Histiocytic/Dendritic cell neoplasms
			\|-
			\|Family
			\|Histiocyte/macrophage neoplasms
			\|-
			\|Type
			\|Histiocytic neoplasms
			\|-
			\|Subtype(s)
			\|Rosai-Dorfman Disease
			\|}

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

Bailey.Glen at 22:10, 6 September 2024

2024-09-06T22:10:57Z

Show changes

← Older revision		Revision as of 08:21, 28 February 2025
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	This disease is <u>defined/characterized</u> as detailed below:		This disease is <u>defined/characterized</u> as detailed below:

	* Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis.		*Rosai–Dorfman disease (RDD) is rare histiocytic disorder characterized by nodal or extranodal accumulation of S100-positive histiocytes/macrophages with emperipolesis<ref name=":0">John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours Part A. 5th edition, IARC Press:Lyon, 2024.</ref>.

	The <u>epidemiology/prevalence</u> of this disease is detailed below:		The <u>epidemiology/prevalence</u> of this disease is detailed below:

	* Rare, occurs in people of all ethnicity, more common in African descent with male predilection. Exception is cutaneous RDD which is more common in Asian women. Nodal RDD occurs in 2nd-3rd decades of life whereas extranodal occurs later in 5th decade. Rare inherited disorders associated with germline mutations in the nucleoside transporter gene ''SLC29A3'' (H syndrome / Faisalabad histiocytosis), and FAS deficiency with heterozygous germline mutations in ''FAS'' (''TNFRSF6'') (autoimmune lymphoproliferative syndrome) predispose to familial RDD.		*Rare, occurs in people of all ethnicity, more common in African descent with male predilection. Exception is cutaneous RDD which is more common in Asian women. Nodal RDD occurs in 2nd-3rd decades of life whereas extranodal occurs later in 5th decade. Rare inherited disorders associated with germline mutations in the nucleoside transporter gene ''SLC29A3'' (H syndrome / Faisalabad histiocytosis), and FAS deficiency with heterozygous germline mutations in ''FAS'' (''TNFRSF6'') (autoimmune lymphoproliferative syndrome) predispose to familial RDD<ref name=":0" />.

	The <u>clinical features</u> of this disease are detailed below:		The <u>clinical features</u> of this disease are detailed below:

	Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients		Signs and symptoms - painless, slow-growing lymphadenopathy; B-symptoms may be present in 1/3 of patients<ref name=":0" />

	The <u>sites of involvement</u> of this disease are detailed below:		The <u>sites of involvement</u> of this disease are detailed below:

	* Nodal: Cervical region lymph nodes.		*Nodal: Cervical region lymph nodes<ref name=":0" />
	* Extranodal: Mostly head and neck, skin, and CNS		*Extranodal: Mostly head and neck, skin, and CNS<ref name=":0" />

	The <u>morphologic features</u> of this disease are detailed below:		The <u>morphologic features</u> of this disease are detailed below:

	* Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses.		*Gross examination: Lymph nodes are enlarged and matted, might form multinodular masses<ref name=":0" />.
	* Histopathology: Lymph nodes with sinus expansion shows RDD cells - distinctive large histiocytes with emperipolesis (the presence of intact lymphocytes, but also plasma cells, neutrophils, and erythrocytes within the histiocyte cytoplasm); Mixed infiltration by small B cells, T cells and numerous polytypic plasma cells.		*Histopathology: Lymph nodes with sinus expansion shows RDD cells - distinctive large histiocytes with emperipolesis (the presence of intact lymphocytes, but also plasma cells, neutrophils, and erythrocytes within the histiocyte cytoplasm); Mixed infiltration by small B cells, T cells and numerous polytypic plasma cells<ref name=":0" />.

	The <u>immunophenotype</u> of this disease is detailed below:		The <u>immunophenotype</u> of this disease is detailed below:

	Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163		Positive (universal) - S100-highlights emperipolesis, OCT2, phosphorylated ERK and cyclin D1, CD68 and CD163<ref name=":0" />

	Negative (universal) - CD1a and CD207 (langerin)		Negative (universal) - CD1a and CD207 (langerin)<ref name=":0" />

	==Links==		==Links==
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	Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>		Put a link here or anywhere appropriate in this page <span style="color:#0070C0">(''Instructions: Highlight the text to which you want to add a link in this section or elsewhere, select the "Link" icon at the top of the wiki page, and search the name of the internal page to which you want to link this text, or enter an external internet address by including the "<nowiki>http://www</nowiki>." portion.'')</span>
	==References==		==References==
	(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''~~</span><span style="color:#0070C0">)~~</span> <references />		(use the "Cite" icon at the top of the page) <span style="color:#0070C0">(''Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted''</span><span style="color:#0070C0">''.''</span> <references />

	~~'''EXAMPLE Book'''~~

	#John Chan, et al., Rosai-Dorfman disease, in WHO Classification of Tumours Editorial Board. Haematolymphoid tumours. Lyon (France): International Agency for Research on Cancer; 2024. . (WHO classification of tumours series, 5th ed.; vol. 11). <nowiki>https://publications.iarc.who.int/637</nowiki>.

	==Notes==		==Notes==