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

• 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.

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.