Mast cell leukemia pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
*Mutation of c-KIT is also a hallmark of the disease. | *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. | *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. | *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. | |||
==Associated Conditions== | ==Associated Conditions== | ||
==Gross Pathology== | ==Gross Pathology== | ||
Revision as of 21:03, 19 November 2015
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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.
- 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.
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.