Mast cell tumor pathophysiology

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

Overview

Pathophysiology

Mast Cell

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]
  • 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

  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
  3. 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. 4.0 4.1 Mastocytosis. Libre Pathology. http://librepathology.org/wiki/Mastocytosis accessed on March 1st, 2016

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