Compendium of Cancer Genome Aberrations

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{{DISPLAYTITLE:Cutaneous mastocytosis}}
{{DISPLAYTITLE:Cutaneous mastocytosis}}
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]
[[HAEM5:Table_of_Contents|Haematolymphoid Tumours (WHO Classification, 5th ed.)]]


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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:Cutaneous Mastocytosis]].
<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:Cutaneous Mastocytosis]].
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==Definition / Description of Disease==
Cutaneous mastocytosis is a mast cell disorder that primarily affects the skin.
==Synonyms / Terminology==
Urticaria pigmentosa
==Epidemiology / Prevalence==
Cutaneous mastocytosis (CM) most commonly affect children, which is usually diagnosed prior to 2 years old with slight male predominance <ref>{{Cite journal|last=Castells|first=Mariana|last2=Metcalfe|first2=Dean D.|last3=Escribano|first3=Luis|date=2011-08-01|title=Diagnosis and treatment of cutaneous mastocytosis in children: practical recommendations|url=https://pubmed.ncbi.nlm.nih.gov/21668033|journal=American Journal of Clinical Dermatology|volume=12|issue=4|pages=259–270|doi=10.2165/11588890-000000000-00000|issn=1179-1888|pmc=4126834|pmid=21668033}}</ref><ref>{{Cite journal|last=Hartmann|first=Karin|last2=Henz|first2=Beate M.|date=2002-02|title=Cutaneous mastocytosis -- clinical heterogeneity|url=https://pubmed.ncbi.nlm.nih.gov/11919426|journal=International Archives of Allergy and Immunology|volume=127|issue=2|pages=143–146|doi=10.1159/000048187|issn=1018-2438|pmid=11919426}}</ref>. Approximately 80% of patient of mastocytosis develop cutaneous lesion <ref>{{Cite journal|last=Pardanani|first=A.|last2=Akin|first2=C.|last3=Valent|first3=P.|date=2006|title=Pathogenesis, clinical features, and treatment advances in mastocytosis|url=https://pubmed.ncbi.nlm.nih.gov/16781490|journal=Best Practice & Research. Clinical Haematology|volume=19|issue=3|pages=595–615|doi=10.1016/j.beha.2005.07.010|issn=1521-6926|pmid=16781490}}</ref>.
==Clinical Features==
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{| 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 old template. Please incorporate above.}}</blockquote>
There are three typical variants of cutaneous mastocytosis: 1) urticaria pigmentosa (UP)/maculopapular cutaneous mastocytosis (MPCM), 2) diffuse CM, and 3) mastocytoma of skin.  UP/MPCM is the most common type and presents as brown or red macule or macule and papules with melanin pigmentation. Diffuse CM is almost exclusively in childhood and presents as diffusely thickened skin, pachydermia. Familial cases and germline mutations can be associated diffuse CM. Cutaneous mastocytoma is also known as solitary mastocytoma of skin, which is single or less than 3 lesions without predilection for presenting site. In addition, CM cannot be diagnosed if the features or criteria of systemic mastocytosis are met.
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==Sites of Involvement==
Cutaneous mastocytosis can present in any location of the body with common involvement of extremities and trunk.
==Morphologic Features==
Histologically, CM demonstrates increased number of mast cells in skin lesion. UP/MPCM reveals spindle-shaped mast cells in papillary dermis with extension to reticular dermis. Diffuse CM demonstrate highest number of mast cells in sheets filling papillary and upper reticular dermis. Cutaneous mastocytoma usually involves subcutaneous tissue with abundant granular cytoplasm of mast cells.
==Immunophenotype==
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{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive (universal)||CD117; Tryptase
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|Positive (subset)||Aberrant CD25 and CD2; CD30 in well-differentiated mastocytosis
|-
|Negative (universal)||B-cell antigens; CD3; CD5; CD7; MPO; CD15; CD21; CD34
|}
==WHO Essential and Desirable Genetic Diagnostic Criteria==
==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>
<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>
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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.


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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>


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==Notes==
==Notes==
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<nowiki>*</nowiki>''Citation of this Page'': “Cutaneous mastocytosis”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Cutaneous_mastocytosis</nowiki>.
<nowiki>*</nowiki>''Citation of this Page'': “Cutaneous mastocytosis”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated {{REVISIONMONTH}}/{{REVISIONDAY}}/{{REVISIONYEAR}}, <nowiki>https://ccga.io/index.php/HAEM5:Cutaneous_mastocytosis</nowiki>.
[[Category:HAEM5]][[Category:DISEASE]][[Category:Diseases C]]
[[Category:HAEM5]]
[[Category:DISEASE]]
[[Category:Diseases C]]
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