Mast cell tumor pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

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]

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]
The following genes are involved in the pathogenesis of mast cell tumor:

↑ 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.
↑ ^4.0 ^4.1 Mastocytosis. Libre Pathology. http://librepathology.org/wiki/Mastocytosis accessed on March 1st, 2016