Mast cell tumor pathophysiology: Difference between revisions
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*It is a normal component of the [[immune system]] and as it releases [[histamine]] it is associated with [[allergy|allergic reactions]]. | *It is a normal component of the [[immune system]] and as it releases [[histamine]] it is associated with [[allergy|allergic reactions]]. | ||
*Mast cell [[Granule|granules]] contain [[histamine]], [[heparin]], [[platelet-activating factor]], and other substances.<ref name=saph>{{cite journal |author=Brière C |title=Use of a reverse saphenous skin flap for the excision of a grade II mast cell tumor on the hind limb of a dog |journal=Can Vet J |volume=43 |issue=8 |pages=620-2 |year=2002 |id=PMID 12170840}}</ref> | *Mast cell [[Granule|granules]] contain [[histamine]], [[heparin]], [[platelet-activating factor]], and other substances.<ref name=saph>{{cite journal |author=Brière C |title=Use of a reverse saphenous skin flap for the excision of a grade II mast cell tumor on the hind limb of a dog |journal=Can Vet J |volume=43 |issue=8 |pages=620-2 |year=2002 |id=PMID 12170840}}</ref> | ||
*It is thought that the effects of | *It is thought that the effects of mast cell tumor relate at least in part to mediator release. | ||
*In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, [[bone marrow]], [[gastrointestinal tract]], [[liver]], and [[spleen]].<ref name=radiopaedia>Mastocytosis. Dr Alexandra Stanislavsky. Radiopaedia.org 2015. http://radiopaedia.org/articles/mastocytosis Accessed on February 29, 2016</ref> | *In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, [[bone marrow]], [[gastrointestinal tract]], [[liver]], and [[spleen]].<ref name=radiopaedia>Mastocytosis. Dr Alexandra Stanislavsky. Radiopaedia.org 2015. http://radiopaedia.org/articles/mastocytosis Accessed on February 29, 2016</ref> | ||
===Genetics=== | ===Genetics=== | ||
*Mast cells express a cell surface receptor, ''C-KIT'' (CD117), which is the receptor for stem cell factor. In laboratory studies, stem cell factor appears to be important for the proliferation of mast cells. | *Mast cells express a cell surface receptor, ''C-KIT'' (CD117), which is the receptor for stem cell factor. In laboratory studies, stem cell factor appears to be important for the proliferation of mast cells. | ||
Revision as of 19:16, 6 March 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Pathophysiology
Mast Cell
- A mast cell originates from the bone marrow and is normally found throughout the connective tissue of the body.
- It is a normal component of the immune system and as it releases histamine it is associated with allergic reactions.
- Mast cell granules contain histamine, heparin, platelet-activating factor, and other substances.[1]
- It is thought that the effects of mast cell tumor relate at least in part to mediator release.
- In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, bone marrow, gastrointestinal tract, liver, and spleen.[2]
Genetics
- Mast cells express a cell surface receptor, C-KIT (CD117), which is the receptor for stem cell factor. In laboratory studies, stem cell factor appears to be important for the proliferation of mast cells.
- Mutations of the c-kit receptor, leading to uncontrolled stimulation of the receptor, is a cause for the disease.
- The D816V point mutation within the tyrosine kinase Kit (C-Kit) that is detected in 80% of cases is considered a driver mutation causing the permanent receptor activation and consequent proliferation, and thus neoplastic expansion of the mutated mast cell clone.[3]
- Genes involved in the pathogenesis of mast cell tumor include:
The following genes are involved in the pathogenesis of mast cell tumor:
- KIT
- RAS
- JAK2
- TET2
- DNMT3A
- ASXL1
- CBI
Microscopic Pathology
- Cells in the superficial/mid dermis that are:[4]
- Lymphocyte-like with more cytoplasm that is granular
- Cells may have spindled or stellate morphology
- Tend to be more abundant around vessels
- Eosinophils may present
References
- ↑ Brière C (2002). "Use of a reverse saphenous skin flap for the excision of a grade II mast cell tumor on the hind limb of a dog". Can Vet J. 43 (8): 620–2. PMID 12170840.
- ↑ Mastocytosis. Dr Alexandra Stanislavsky. Radiopaedia.org 2015. http://radiopaedia.org/articles/mastocytosis Accessed on February 29, 2016
- ↑ Adolf, Stefanie; Millonig, Gunda; Seitz, Helmut Karl; Reiter, Andreas; Schirmacher, Peter; Longerich, Thomas; Mueller, Sebastian (2012). "Systemic Mastocytosis: A Rare Case of Increased Liver Stiffness". Case Reports in Hepatology. 2012: 1–6. doi:10.1155/2012/728172. ISSN 2090-6587.
- ↑ Mastocytosis. Libre Pathology. http://librepathology.org/wiki/Mastocytosis accessed on March 1st, 2016