Mast cell leukemia pathophysiology

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Overview

Pathophysiology

Pathogenesis

Genetics

  • Mutation of c-KIT is also a hallmark of the disease.
  • Adult-type human mastocytosis is characterized by mutations in c-KIT at codon 816, which cause constitutive activation of KIT kinase.
  • Different classes of activating KIT mutations respond differentially to KIT inhibitors depending on the site and type of mutation.

Associated Conditions

Gross Pathology

Microscopic Pathology

Immunohistochemistry

  • Atypical mast cells express multiple surface antigens such as:
  • CD117/kit
  • CD11c
  • CD13
  • CD29
  • CD33
  • CD44
  • CD45
  • CD63
  • CD68
  • CD71
  • CD2
  • CD22
  • CD25
  • CD54
  • The role of these antigens is however not yet understood.
  • CD2 and CD25 antigens are important markers and their positivity on the surface of mast cells constitute minor criteria for the diagnosis of mast cell disease.

References