Mast cell tumor pathophysiology

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

Pathophysiology

• A mast cell originates from the bone marrow and is normally found throughout the connective tissue of the body. You can find mast cells in skin, lymph nodes, internal organs (such as the liver and spleen) and the linings of the lung, stomach, and intestine
• 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.
• Mediator release from mast cells has a central role in the development of type 1 hypersensitivity.
• In systemic mastocytosis, abnormal proliferation and microscopic infiltration of mast cells involves skin, bone marrow, gastrointestinal tract, liver, and spleen.
• It is thought that the effects of mastocytosis relate at least in part to mediator release.
• 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.

Genetics

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:

• 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