HAEM5:Mast cell sarcoma: Difference between revisions

{{Under Construction}}

}}</blockquote>

Department of Pathology, University of South Alabama, Mobile, AL  

==WHO Classification of Disease==

|}

{| class="wikitable"

|+

|Acceptable

|-

|Not Recommended

|}

* Chromosomal Rearrangements (Gene Fusions)

* Individual Region Genomic Gain/Loss/LOH

{| class="wikitable sortable"

|-

|-

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

!Chromosomal Pattern

!Molecular Pathogenesis

|-

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

{| class="wikitable sortable"

|-

|-

|<span class="blue-text">EXAMPLE:</span>''EGFR''

|}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.

{| class="wikitable sortable"

!Gene!!Mutation!!Oncogene/Tumor Suppressor/Other!!Presumed Mechanism (LOF/GOF/Other; Driver/Passenger)!!Prevalence (COSMIC/TCGA/Other)

|-

|-

|''KIT'' exon 17

|}

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>  

(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 />

==Notes==

          

<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>.