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/kit
:*CD117
:*CD11c
:*CD11c
:*CD13
:*CD13

Revision as of 13:07, 30 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

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. 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. 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. 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.