Compendium of Cancer Genome Aberrations

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


{{Under Construction}}
{{Under Construction}}


<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:Mast 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:Mast Cell Sarcoma]].
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|Subtype(s)
|Subtype(s)
|Mast cell sarcoma
|Mast cell sarcoma
|}
==Definition / Description of Disease==
Localized, solid tumor composed of highly atypical mast cells with a destructive growth pattern and metastatic potential.<ref name=":0">{{Cite journal|last=J|first=Monnier|last2=S|first2=Georgin-Lavialle|last3=D|first3=Canioni|last4=L|first4=Lhermitte|last5=M|first5=Soussan|last6=M|first6=Arock|last7=J|first7=Bruneau|last8=P|first8=Dubreuil|last9=C|first9=Bodemer|date=2016|title=Mast cell sarcoma: new cases and literature review|url=https://pubmed.ncbi.nlm.nih.gov/27602777/|language=en|doi=10.18632/oncotarget.11812|pmc=PMC5323235|pmid=27602777}}</ref><ref name=":1">Arber DA, et al., (2017). Mast cell sarcoma, 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, p. 62-69.</ref>
==Synonyms / Terminology==
Malignant Mast Cell Tumor
Malignant Mastocytoma
==Epidemiology / Prevalence==
Mast cell sarcoma is a rare entity with no clear gender predilection.<ref name=":1" /><ref name=":0" /> Cases have been reported in a wide range of ages from infancy to 77 years of age.<ref name=":2">{{Cite journal|last=Rj|first=Ryan|last2=C|first2=Akin|last3=M|first3=Castells|last4=M|first4=Wills|last5=Mk|first5=Selig|last6=Gp|first6=Nielsen|last7=Ja|first7=Ferry|last8=Jl|first8=Hornick|date=2013|title=Mast cell sarcoma: a rare and potentially under-recognized diagnostic entity with specific therapeutic implications|url=https://pubmed.ncbi.nlm.nih.gov/23196796/|language=en|pmid=23196796}}</ref><ref>{{Cite journal|last=Ma|first=Bautista-Quach|last2=Cl|first2=Booth|last3=A|first3=Kheradpour|last4=Cw|first4=Zuppan|last5=Eh|first5=Rowsell|last6=L|first6=Weiss|last7=J|first7=Wang|date=2013|title=Mast cell sarcoma in an infant: a case report and review of the literature|url=https://pubmed.ncbi.nlm.nih.gov/23211696/|language=en|pmid=23211696}}</ref> Most cases seem to arise de novo, but two cases have developed in patients with a history of cutaneous mastocytosis.<ref name=":0" />
==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 old template. Please incorporate above.}}</blockquote>
The presentation is variable. The disease is initially localized, followed by distant spread and a terminal phase resembling mast cell leukemia.<ref name=":1" /> Progression usually occurs quickly and prognosis is poor. Mast cell sarcoma often results in death within a few months.<ref name=":0" /> Treatment includes imatinib, a tyrosine kinase inhibitor that blocks [[PDGFRA|PDGF-R]] (platelet-derived growth factor receptor) and the tyrosine kinase proteins encoded by ''[[ABL1|abl]]'' (the Abelson proto-oncogene) and ''KIT'', or other tyrosine kinase inhibitors.<ref name=":2" /> Surgical debulking, radiation and chemotherapy are the usual first-line therapies.<ref>{{Cite journal|last=P|first=Valent|last2=C|first2=Akin|last3=Dd|first3=Metcalfe|date=2017|title=Mastocytosis: 2016 updated WHO classification and novel emerging treatment concepts|url=https://pubmed.ncbi.nlm.nih.gov/28031180/|language=en|doi=10.1182/blood-2016-09-731893|pmc=PMC5356454|pmid=28031180}}</ref><ref>{{Cite journal|last=Cr|first=Weiler|last2=J|first2=Butterfield|date=2014|title=Mast cell sarcoma: clinical management|url=https://pubmed.ncbi.nlm.nih.gov/24745684/|language=en|pmid=24745684}}</ref> Hematopoietic stem cell transplantation represents a potential curative treatment, but evidence of its efficacy is lacking.<ref name=":0" />
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<center><span style="color:Maroon">'''End of V4 Section'''</span>
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==Sites of Involvement==
Bone, gastrointestinal tract, lymph nodes, skin, spleen, liver, oropharyngeal tract, meninges, uterus, testicles and eyes.<ref name=":0" />
==Morphologic Features==
Mast cell sarcoma exhibits a solid growth pattern.  Microscopically, this tumor is poorly differentiated and heterogeneous. Mast cell sarcoma cells are usually medium to very large, with pleomorphic or epithelioid cellular features and oval or bilobed nuclei. Multinucleated giant cells may be identified.<ref name=":0" />  Histologic features may even vary between sites within the same patient. The typical features of systemic mastocytosis, including multifocal dense infiltrates of greater than 14 mast cells, are rarely seen in mast cell sarcoma.<ref name=":1" />
==Immunophenotype==
{| class="wikitable sortable"
|-
!Finding!!Marker
|-
|Positive||Tryptase, stem cell factor receptor KIT (CD117), common leukocyte antigen (CD45), macrosialin (CD68R), amiopeptidase N (CD13), C5a receptor (CD88), GM-CSF receptor alpha chain (CD116)<ref name=":3">{{Cite journal|last=A|first=Chott|last2=P|first2=Guenther|last3=A|first3=Huebner|last4=E|first4=Selzer|last5=Rm|first5=Parwaresch|last6=Hp|first6=Horny|last7=P|first7=Valent|date=2003|title=Morphologic and immunophenotypic properties of neoplastic cells in a case of mast cell sarcoma|url=https://pubmed.ncbi.nlm.nih.gov/12826896/|language=en|pmid=12826896}}</ref>
|-
|Negative||CD1a, CD2, CD3, CD5, CD14, CD15, CD19, CD20, CD34, CD114<ref name=":3" />
|}
|}


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<blockquote class='blockedit'>{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
<blockquote class="blockedit">{{Box-round|title=v4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).|Please incorporate this section into the relevant tables found in:
* Chromosomal Rearrangements (Gene Fusions)
* Chromosomal Rearrangements (Gene Fusions)
* Individual Region Genomic Gain/Loss/LOH
* Individual Region Genomic Gain/Loss/LOH
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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 old template. Please incorporate above.}}</blockquote>
<blockquote class="blockedit">{{Box-round|title=v4:Gene Mutations (SNV/INDEL)|The content below was from the old template. Please incorporate above.}}</blockquote>


{| class="wikitable sortable"
{| class="wikitable sortable"
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!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)
|-
|-
|''KIT'' exon 17||c.2447A>T, p.Asp816Val||Proto-oncogene||GOF||3 cases<ref name=":0" />
|''KIT'' exon 17||c.2447A>T, p.Asp816Val||Proto-oncogene||GOF||3 cases<ref name=":0">{{Cite journal|last=J|first=Monnier|last2=S|first2=Georgin-Lavialle|last3=D|first3=Canioni|last4=L|first4=Lhermitte|last5=M|first5=Soussan|last6=M|first6=Arock|last7=J|first7=Bruneau|last8=P|first8=Dubreuil|last9=C|first9=Bodemer|date=2016|title=Mast cell sarcoma: new cases and literature review|url=https://pubmed.ncbi.nlm.nih.gov/27602777/|language=en|doi=10.18632/oncotarget.11812|pmc=PMC5323235|pmid=27602777}}</ref>
|-
|-
|''KIT'' exon 17
|''KIT'' exon 17
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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>
<blockquote class="blockedit">{{Box-round|title=v4:Genes and Main Pathways Involved|The content below was from the old template. Please incorporate above.}}</blockquote>


The ''KIT'' proto-oncogene encodes the KIT (CD117) tyrosine kinase protein receptor. KIT is found on hematopoietic progenitor cells, mast cells, germ cells, melanocytes, and interstitial cells of Cajal. Most hematopoietic stem cells loose KIT expression during maturation. However, mature mast cells continue to express KIT.  Stem Cell Factor protein is the ligand which binds to KIT protein, leading to dimerization and activation of signaling cascades involved in a wide variety of cellular roles, including regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function. In addition to mast cell disorders, mutations in this gene are found in gastrointestinal stromal tumors and acute myeloid leukemia.<ref>{{Cite journal|title=KIT - Mast/stem cell growth factor receptor Kit precursor - Homo sapiens (Human) - KIT gene & protein|url=https://www.uniprot.org/uniprot/P10721}}</ref><ref>{{Cite journal|last=L|first=Falchi|last2=S|first2=Verstovsek|date=2018|title=Kit Mutations: New Insights and Diagnostic Value|url=https://pubmed.ncbi.nlm.nih.gov/30007460/|language=en|pmid=30007460}}</ref>  
The ''KIT'' proto-oncogene encodes the KIT (CD117) tyrosine kinase protein receptor. KIT is found on hematopoietic progenitor cells, mast cells, germ cells, melanocytes, and interstitial cells of Cajal. Most hematopoietic stem cells loose KIT expression during maturation. However, mature mast cells continue to express KIT.  Stem Cell Factor protein is the ligand which binds to KIT protein, leading to dimerization and activation of signaling cascades involved in a wide variety of cellular roles, including regulation of cell survival and proliferation, hematopoiesis, stem cell maintenance, gametogenesis, mast cell development, migration and function. In addition to mast cell disorders, mutations in this gene are found in gastrointestinal stromal tumors and acute myeloid leukemia.<ref>{{Cite journal|title=KIT - Mast/stem cell growth factor receptor Kit precursor - Homo sapiens (Human) - KIT gene & protein|url=https://www.uniprot.org/uniprot/P10721}}</ref><ref>{{Cite journal|last=L|first=Falchi|last2=S|first2=Verstovsek|date=2018|title=Kit Mutations: New Insights and Diagnostic Value|url=https://pubmed.ncbi.nlm.nih.gov/30007460/|language=en|pmid=30007460}}</ref>  
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'''
<br />


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