Mast cell tumor pathophysiology

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

Overview

Pathophysiology

  • 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]
  • 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.[2]
  • 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

References

  1. 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.
  2. Mastocytosis. Dr Alexandra Stanislavsky. Radiopaedia.org 2015. http://radiopaedia.org/articles/mastocytosis Accessed on February 29, 2016

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