Mast cell leukemia pathophysiology

Mast cell leukemia Microchapters
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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]

Genetics

Genes involved in the pathogenesis of mast cell leukemia include:

• KIT D816V
• non-KIT D816V

• 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.
• D816V c-KIT mutation is the most frequent mutation, found in more than 80% of adult patients with systemic mastocytosis especially in the aggressive forms with a frequency of more than 95% in mast cell leukemia patients.

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.