Compendium of Cancer Genome Aberrations

HAEM5:Langerhans cell sarcoma: Difference between revisions

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<blockquote class='blockedit'>{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Langerhans Cell Sarcoma]].
<blockquote class="blockedit">{{Box-round|title=Content Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification|This page was converted to the new template on 2023-12-07. The original page can be found at [[HAEM4:Langerhans Cell Sarcoma]].
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Dr Malaika Perchard BSci(MedSci), MBBS, FRACP, FRCPA, (Paediatric Haematologist) Pathology Queensland
Dr Malaika Perchard BSci(MedSci), MBBS, FRACP, FRCPA, (Paediatric Haematologist) Pathology Queensland
__TOC__
==WHO Classification of Disease==
==WHO Classification of Disease==


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==Definition / Description of Disease==
==Related Terminology==
 
Tumours derived from Langerhans cells (LCs) are rare disorders characterized by clonal proliferation of LCs that can be subdivided in to two groups based on severity of cytological atypia and clinical aggressiveness. These two groups are LC histiocytosis (LCH) and LC sarcoma. LC sarcoma displays overt malignant cytological features and is more clinically aggressive. <ref name=":0">{{Cite journal|date=2016-07-21|title=Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia. Blood. 2016;127(20):2391-2405.|url=http://dx.doi.org/10.1182/blood-2016-06-721662|journal=Blood|volume=128|issue=3|pages=462–463|doi=10.1182/blood-2016-06-721662|issn=0006-4971}}</ref>
 
==Synonyms / Terminology==
 
Langerhans cell sarcoma (LCS)
 
==Epidemiology / Prevalence==
 
Langerhans cell sarcoma<ref name=":0" />
 
*Extremely rare
*Essentially only seen in adults (mean age at diagnosis is 41)
 
*More common in females <ref>{{Cite journal|last=Nakamine|first=Hirokazu|last2=Yamakawa|first2=Mitsunori|last3=Yoshino|first3=Tadashi|last4=Fukumoto|first4=Takaya|last5=Enomoto|first5=Yasunori|last6=Matsumura|first6=Itaru|date=2016|title=Langerhans Cell Histiocytosis and Langerhans Cell Sarcoma: Current Understanding and Differential Diagnosis|url=https://www.jstage.jst.go.jp/article/jslrt/56/2/56_109/_article|journal=Journal of Clinical and Experimental Hematopathology|language=en|volume=56|issue=2|pages=109–118|doi=10.3960/jslrt.56.109|issn=1346-4280|pmc=PMC6144204|pmid=27980300}}</ref>
*In a subset of cases Merkel cell polyomavirus sequences have been identified
 
==Clinical Features==
 
Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
{| class="wikitable"
|'''Signs and Symptoms'''
|<span class="blue-text">EXAMPLE:</span> Asymptomatic (incidental finding on complete blood counts)
 
<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'''
|<span class="blue-text">EXAMPLE:</span> Cytopenias
 
<span class="blue-text">EXAMPLE:</span> Lymphocytosis (low level)
|}
 
 
<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Features|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
 
Most cases are identified in adults with extra nodal and multifocal disease with skin and underlying soft tissue lesions as the most common sites of involvement.  Patients can present with multiorgan involvement including lymph nodes, lung, liver, spleen and bone lesions. Grade III-IV disease is present in ~44% of patients with only 22% of cases presenting with primary nodal disease only. Hepatosplenomegaly and pancytopenia are seen in less than a quarter of patients <ref name=":0" />.
 
 
LCS is an aggressive high grade malignancy associated with progressive disease and a high (>50%) mortality rate <ref name=":0" />.
<blockquote class="blockedit">
<center><span style="color:Maroon">'''End of V4 Section'''</span>
----
</blockquote>
==Sites of Involvement==
 
Most common:<ref name=":0" />
 
·        Extranodal
 
o   Skin and underlying soft tissue
 
Less common:
 
·        Nodal
 
o   Lymph nodes
 
·        Extranodal


o   Lung
o   Liver
o   Spleen
o   Bone
==Morphologic Features==
The key feature for the diagnosis is the presence of the LCH cells. Overtly malignant features of LC's include a high mitotic rate (usually >50 mitoses per 10 high powered fields), clumped chromatin and the presence of nucleoli. The LC cell morphology can be highly pleomorphic, potentially with the cellular ultrastructure or phenotype being the only indication of the LC derivation. Similar to LCH, the Birbeck granules can be detected by electron microscopy. Characteristic complex nuclear grooves may be present on histology <ref name=":0" />.
==Immunophenotype==
The immunophenotype is identical to LCH, cells consistently express CD1a, langerin (CD2017) and S100, which can be used to distinguish LCH from other histiocytic disorders and non-neoplastic macrophages<ref name=":0" />.
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||Langerin, CD1a, CD4, S100, HLA-DR
|-
|Positive (subset)||CD68, Lysozyme (low), CD45 (low)
Ki-67 highly variable.
|-
|Negative (universal)||B and T cell markers (except CD4), Factor XIIIa, CD21, CD35, CD123, CD162, Fascin, TCL1, Fc receptors
|}
==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==
<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
|
|Malignant histiocytosis of Langerhans phenotype
|-
|-
|Not Recommended
|Not Recommended
|
|N/A
|}
|}


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<blockquote class='blockedit'>{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Chromosomal Rearrangements (Gene Fusions)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>


No recurrent chromosomal rearrangements have been identified.
No recurrent chromosomal rearrangements have been identified.
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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''
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|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.
|}Note: A more extensive list of mutations can be found in [https://www.cbioportal.org/ <u>cBioportal</u>], [https://cancer.sanger.ac.uk/cosmic <u>COSMIC</u>], and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.


<blockquote class='blockedit'>{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the previous version of the page. Please incorporate above.}}</blockquote>


A ''BRAF V600E'' mutation has been detected in one case of LCS.
A ''BRAF V600E'' mutation has been detected in one case of LCS.
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{| class="wikitable sortable"
{| class="wikitable sortable"
|-
|-
!Gene; Genetic Alteration!!'''Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)'''
!Gene; Genetic Alteration!!Presumed Mechanism (Tumor Suppressor Gene [TSG] / Oncogene / Other)
!'''Diagnostic Significance (Yes, No or Unknown)'''
!Diagnostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Prognostic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
!Therapeutic Significance (Yes, No or Unknown)
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<nowiki>*</nowiki>''Citation of this Page'': “Langerhans cell sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Langerhans_cell_sarcoma</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Langerhans cell sarcoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Langerhans_cell_sarcoma</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases L]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases L]]
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