HAEM5:Erdheim-Chester disease - Revision history

Bailey.Glen at 17:14, 3 July 2025

2025-07-03T17:14:24Z

← Older revision		Revision as of 12:14, 3 July 2025
Line 32:		Line 32:
	\|}		\|}

	~~==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 21:34, 25 May 2025

2025-05-25T21:34:35Z

← Older revision		Revision as of 16:34, 25 May 2025
Line 125:		Line 125:
	{\| 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>
Line 182:		Line 182:
	!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>
Line 217:		Line 217:
	{\| 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 20:10, 25 May 2025

2025-05-25T20:10:11Z

← Older revision		Revision as of 15:10, 25 May 2025
Line 47:		Line 47:
	<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
	\|		\|Lipogranulomatosis; lipoid granulomatosis; polyostotic sclerosing histiocytosis
	\|}		\|}

Bailey.Glen at 17:35, 24 March 2025

2025-03-24T17:35:55Z

← Older revision		Revision as of 12:35, 24 March 2025
Line 10:		Line 10:

	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 at 14:02, 28 February 2025

2025-02-28T14:02:35Z

Show changes

Bailey.Glen: Undo revision 16256 by Bailey.Glen (talk)

2025-02-11T14:54:45Z

Undo revision 16256 by Bailey.Glen (talk)

@@ Line 33: / Line 33: @@
 |Subtype(s)
 |Erdheim-Chester disease
 |}

Bailey.Glen: Removed old template contents

2025-02-11T14:51:22Z

Removed old template contents

@@ Line 33: / Line 33: @@
 |Subtype(s)
 |Erdheim-Chester disease
 |}

Bailey.Glen at 18:45, 10 February 2025

2025-02-10T18:45:18Z

Show changes

Mayuri.Shende at 23:53, 9 October 2024

2024-10-09T23:53:06Z

← Older revision		Revision as of 18:53, 9 October 2024
Line 1:		Line 1:
	~~{{DISPLAYTITLE:Erdheim-Chester disease}}~~
	[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]		[[HAEM5:Table_of_Contents\|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]

Line 8:		Line 7:
	==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__
Line 36:		Line 37:
	==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>		Erdheim–Chester disease (ECD) is a histiocytic neoplasm characterized by accumulation of mature histiocytes, associated with inflammation and fibrosis in many different organs . <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>		Erdheim–Chester disease (ECD) <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 histiocytic neoplasm with median age at diagnosis being 55 years, male predilection. Many cases might be underdiagnosed.

	==Clinical Features==		==Clinical Features==
Line 51:		Line 52:
	{\| class="wikitable"		{\| class="wikitable"
	\|'''Signs and Symptoms'''		\|'''Signs and Symptoms'''
	\|~~<span class="blue-text">EXAMPLE:</span>~~ Asymptomatic ~~(incidental finding on complete blood counts)~~		\|Asymptomatic or presents with fever, fatigue
			Site related symptoms like bone pain, exophthalmos, xanthelasma, diabetes insipidus

	~~<span class="blue-text">EXAMPLE:</span> B~~-symptoms ~~(weight loss, fever, night sweats)~~		CNS-mass effect or neurodegerative type symptoms

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

	~~<span class="blue-text">EXAMPLE:</span> Lymphadenopathy (uncommon)~~		Painful abdominal mass
	\|-		\|-
	\|'''Laboratory Findings'''		\|'''Laboratory and imaging Findings'''
	\|~~<span class="blue~~-~~text">EXAMPLE:</span> Cytopenias~~		\|Symmetrical osteosclerosis of the leg bones on PET with bilateral uptake of FDG
			Hairy-kidney appearance in cases of bilateral perinephric involvement

	~~<span class="blue~~-~~text">EXAMPLE:</span> Lymphocytosis (low level)~~		Mass-like infiltration of the right atrium on MRI

			Sclerosis of sinuses of the face on CT

			May be associated with chronic myelomonocytic leukaemia, Langerhans cell histiocytosis
	\|}		\|}

	==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>		ECD can involve any organ, mostly excludes lymph nodes, spleen and liver. In majority of cases (80-95%) involves long bones, bilaterally and symmetric. Perinephric, periaortic involvement also frequent. Pitutary, neurologic, pulmonary, cardiac, serosal and cutaneous involvement (manifesting as xanthelasma or papule) also noted. <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~~		Histopathology:

			*Infiltration by foamy, lipid-laden, and/or small mononuclear histiocytes and variable proportions of Touton giant cells, small lymphocytes, plasma cells, and/or neutrophils.
			*Fibrosis usually present
			*Can be misdiagnosed as reactive fibroinflammatory process if there is extensive fibrosis or it may also show partial morphological and immunophenotypic overlap with Rosai–Dorfman disease or with reticulohistiocytosis or Langerhans cell histiocytosis.

	==Immunophenotype==		==Immunophenotype==
Line 81:		Line 92:
	!Finding!!Marker		!Finding!!Marker
	\|-		\|-
	\|Positive (universal)\|\|~~<span class="blue-text">EXAMPLE:</span> CD1~~		\|Positive (universal)\|\|CD163, CD68, CD14, and CD4
			Positive for factor XIIIa, fascin, and (less commonly) S100

			Diffuse strong cytoplasmic staining with VE1 monoclonal antibody suggestive of BRAF p.V600E mutation, but should be confirmed with molecular analysis

			Expression of phosphorylated ERK also noted frequently
	\|-		\|-
	\|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
	\|-		\|-
	\|Negative (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD4		\|Negative (subset)\|\|<span class="blue-text">EXAMPLE:</span> CD4
Line 224:		Line 240:
	!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 somatic alteration
	\|~~<span class="blue-text">EXAMPLE:</span>~~ MAPK ~~signaling~~		\|MAPK cell signalling 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		\|''BRAF'' p.V600E mutations or ''BRAF'', ''ARAF'', ''NRAS'', ''KRAS'', or ''MAP2K1''
	\|<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
	\|-		\|-
	\|~~<span class="blue-text">EXAMPLE:</span> KMT2C and ARID1A; Inactivating mutations~~		\|
	\|~~<span class="blue-text">EXAMPLE:</span> Histone modification, chromatin remodeling~~		\|''PIK3CA''
	\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program		\|<span class="blue-text">EXAMPLE:</span> Abnormal gene expression program
	\|}		\|}
Line 257:		Line 273:
	'''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., Erdheim–Chester 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'': “Erdheim-Chester disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Erdheim-Chester_disease</nowiki>.		<nowiki>*</nowiki>''Citation of this Page'': “Erdheim-Chester disease”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Erdheim-Chester_disease</nowiki>.
	[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases E]]		[[Category:HAEM5]]
			[[Category:DISEASE]]
			[[Category:Diseases E]]

Bailey.Glen at 22:24, 6 September 2024

2024-09-06T22:24:25Z

← Older revision		Revision as of 17:24, 6 September 2024
Line 12:		Line 12:
	__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)
			\|Erdheim-Chester disease
			\|}

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