Mast cell leukemia pathophysiology: Difference between revisions
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:*''KIT'' D816V | :*''KIT'' D816V | ||
:*non-''KIT'' D816V | :*non-''KIT'' D816V | ||
*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.<ref name="JorisGeorgin-Lavialle2012">{{cite journal|last1=Joris|first1=Magalie|last2=Georgin-Lavialle|first2=Sophie|last3=Chandesris|first3=Marie-Olivia|last4=Lhermitte|first4=Ludovic|last5=Claisse|first5=Jean-François|last6=Canioni|first6=Danielle|last7=Hanssens|first7=Katia|last8=Damaj|first8=Gandhi|last9=Hermine|first9=Olivier|last10=Hamidou|first10=Mohammed|title=Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive|journal=Case Reports in Hematology|volume=2012|year=2012|pages=1–6|issn=2090-6560|doi=10.1155/2012/517546}}</ref> | *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.<ref name="JorisGeorgin-Lavialle2012">{{cite journal|last1=Joris|first1=Magalie|last2=Georgin-Lavialle|first2=Sophie|last3=Chandesris|first3=Marie-Olivia|last4=Lhermitte|first4=Ludovic|last5=Claisse|first5=Jean-François|last6=Canioni|first6=Danielle|last7=Hanssens|first7=Katia|last8=Damaj|first8=Gandhi|last9=Hermine|first9=Olivier|last10=Hamidou|first10=Mohammed|title=Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive|journal=Case Reports in Hematology|volume=2012|year=2012|pages=1–6|issn=2090-6560|doi=10.1155/2012/517546}}</ref> | ||
==Associated Conditions== | ==Associated Conditions== | ||
==Gross Pathology== | ==Gross Pathology== | ||
| Line 20: | Line 20: | ||
==Immunohistochemistry== | ==Immunohistochemistry== | ||
*Atypical mast cells express multiple surface antigens such as:<ref name="JorisGeorgin-Lavialle2012">{{cite journal|last1=Joris|first1=Magalie|last2=Georgin-Lavialle|first2=Sophie|last3=Chandesris|first3=Marie-Olivia|last4=Lhermitte|first4=Ludovic|last5=Claisse|first5=Jean-François|last6=Canioni|first6=Danielle|last7=Hanssens|first7=Katia|last8=Damaj|first8=Gandhi|last9=Hermine|first9=Olivier|last10=Hamidou|first10=Mohammed|title=Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive|journal=Case Reports in Hematology|volume=2012|year=2012|pages=1–6|issn=2090-6560|doi=10.1155/2012/517546}}</ref> | *Atypical mast cells express multiple surface antigens such as:<ref name="JorisGeorgin-Lavialle2012">{{cite journal|last1=Joris|first1=Magalie|last2=Georgin-Lavialle|first2=Sophie|last3=Chandesris|first3=Marie-Olivia|last4=Lhermitte|first4=Ludovic|last5=Claisse|first5=Jean-François|last6=Canioni|first6=Danielle|last7=Hanssens|first7=Katia|last8=Damaj|first8=Gandhi|last9=Hermine|first9=Olivier|last10=Hamidou|first10=Mohammed|title=Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive|journal=Case Reports in Hematology|volume=2012|year=2012|pages=1–6|issn=2090-6560|doi=10.1155/2012/517546}}</ref> | ||
:*CD117 | :*CD117 | ||
:*CD11c | :*CD11c | ||
:*CD13 | :*CD13 | ||
Revision as of 13:07, 30 November 2015
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Mast cell leukemia Microchapters |
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Mast cell leukemia pathophysiology On the Web |
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Risk calculators and risk factors for Mast cell leukemia pathophysiology |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]
Overview
Genes involved in the pathogenesis of mast cell leukemia include KIT D816V, and non-KIT D816V.[1][2][3]
Pathophysiology
Pathogenesis
Genetics
Genes involved in the pathogenesis of mast cell leukemia include:[1][2][3]
- 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.[1]
Associated Conditions
Gross Pathology
Microscopic Pathology
Immunohistochemistry
- Atypical mast cells express multiple surface antigens such as:[1]
- CD117
- 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
- ↑ 1.0 1.1 1.2 1.3 Joris, Magalie; Georgin-Lavialle, Sophie; Chandesris, Marie-Olivia; Lhermitte, Ludovic; Claisse, Jean-François; Canioni, Danielle; Hanssens, Katia; Damaj, Gandhi; Hermine, Olivier; Hamidou, Mohammed (2012). "Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive". Case Reports in Hematology. 2012: 1–6. doi:10.1155/2012/517546. ISSN 2090-6560.
- ↑ 2.0 2.1 Georgin-Lavialle, S.; Lhermitte, L.; Dubreuil, P.; Chandesris, M.-O.; Hermine, O.; Damaj, G. (2012). "Mast cell leukemia". Blood. 121 (8): 1285–1295. doi:10.1182/blood-2012-07-442400. ISSN 0006-4971.
- ↑ 3.0 3.1 Kristensen, Thomas; Vestergaard, Hanne; Møller, Michael Boe (2011). "Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay". The Journal of Molecular Diagnostics. 13 (2): 180–188. doi:10.1016/j.jmoldx.2010.10.004. ISSN 1525-1578.