Mast cell leukemia pathophysiology: Difference between revisions
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==Overview== | ==Overview== | ||
Genes involved in the pathogenesis of mast cell leukemia include ''KIT'' D816V, and non-''KIT'' D816V.<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><ref name="Georgin-LavialleLhermitte2012">{{cite journal|last1=Georgin-Lavialle|first1=S.|last2=Lhermitte|first2=L.|last3=Dubreuil|first3=P.|last4=Chandesris|first4=M.-O.|last5=Hermine|first5=O.|last6=Damaj|first6=G.|title=Mast cell leukemia|journal=Blood|volume=121|issue=8|year=2012|pages=1285–1295|issn=0006-4971|doi=10.1182/blood-2012-07-442400}}</ref><ref name="KristensenVestergaard2011">{{cite journal|last1=Kristensen|first1=Thomas|last2=Vestergaard|first2=Hanne|last3=Møller|first3=Michael Boe|title=Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay|journal=The Journal of Molecular Diagnostics|volume=13|issue=2|year=2011|pages=180–188|issn=15251578|doi=10.1016/j.jmoldx.2010.10.004}}</ref> There are no characteristic findings of mast cell leukemia on gross pathology.<ref name=Grosspathology>Horvai AE, Link TM. Bone and Soft Tissue Pathology. Elsevier Health Sciences (2012). http://books.google.com?id=p2DV6VWdXx8C. Accessed on November 30, 2015.</ref> On microscopic histopathological analysis, multifocal sheets, and clusters of mast cells in [[bone marrow]] sections are findings of mast cell leukemia.<ref name="ValentSotlar2014">{{cite journal|last1=Valent|first1=P.|last2=Sotlar|first2=K.|last3=Sperr|first3=W. R.|last4=Escribano|first4=L.|last5=Yavuz|first5=S.|last6=Reiter|first6=A.|last7=George|first7=T. I.|last8=Kluin-Nelemans|first8=H. C.|last9=Hermine|first9=O.|last10=Butterfield|first10=J. H.|last11=Hagglund|first11=H.|last12=Ustun|first12=C.|last13=Hornick|first13=J. L.|last14=Triggiani|first14=M.|last15=Radia|first15=D.|last16=Akin|first16=C.|last17=Hartmann|first17=K.|last18=Gotlib|first18=J.|last19=Schwartz|first19=L. B.|last20=Verstovsek|first20=S.|last21=Orfao|first21=A.|last22=Metcalfe|first22=D. D.|last23=Arock|first23=M.|last24=Horny|first24=H.- P.|title=Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal|journal=Annals of Oncology|volume=25|issue=9|year=2014|pages=1691–1700|issn=0923-7534|doi=10.1093/annonc/mdu047}}</ref> | Genes involved in the pathogenesis of [[mast cell]] leukemia include ''KIT'' D816V, and non-''KIT'' D816V.<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><ref name="Georgin-LavialleLhermitte2012">{{cite journal|last1=Georgin-Lavialle|first1=S.|last2=Lhermitte|first2=L.|last3=Dubreuil|first3=P.|last4=Chandesris|first4=M.-O.|last5=Hermine|first5=O.|last6=Damaj|first6=G.|title=Mast cell leukemia|journal=Blood|volume=121|issue=8|year=2012|pages=1285–1295|issn=0006-4971|doi=10.1182/blood-2012-07-442400}}</ref><ref name="KristensenVestergaard2011">{{cite journal|last1=Kristensen|first1=Thomas|last2=Vestergaard|first2=Hanne|last3=Møller|first3=Michael Boe|title=Improved Detection of the KIT D816V Mutation in Patients with Systemic Mastocytosis Using a Quantitative and Highly Sensitive Real-Time qPCR Assay|journal=The Journal of Molecular Diagnostics|volume=13|issue=2|year=2011|pages=180–188|issn=15251578|doi=10.1016/j.jmoldx.2010.10.004}}</ref> There are no characteristic findings of mast cell leukemia on gross pathology.<ref name=Grosspathology>Horvai AE, Link TM. Bone and Soft Tissue Pathology. Elsevier Health Sciences (2012). http://books.google.com?id=p2DV6VWdXx8C. Accessed on November 30, 2015.</ref> On microscopic histopathological analysis, multifocal sheets, and clusters of mast cells in [[bone marrow]] sections are findings of mast cell leukemia.<ref name="ValentSotlar2014">{{cite journal|last1=Valent|first1=P.|last2=Sotlar|first2=K.|last3=Sperr|first3=W. R.|last4=Escribano|first4=L.|last5=Yavuz|first5=S.|last6=Reiter|first6=A.|last7=George|first7=T. I.|last8=Kluin-Nelemans|first8=H. C.|last9=Hermine|first9=O.|last10=Butterfield|first10=J. H.|last11=Hagglund|first11=H.|last12=Ustun|first12=C.|last13=Hornick|first13=J. L.|last14=Triggiani|first14=M.|last15=Radia|first15=D.|last16=Akin|first16=C.|last17=Hartmann|first17=K.|last18=Gotlib|first18=J.|last19=Schwartz|first19=L. B.|last20=Verstovsek|first20=S.|last21=Orfao|first21=A.|last22=Metcalfe|first22=D. D.|last23=Arock|first23=M.|last24=Horny|first24=H.- P.|title=Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal|journal=Annals of Oncology|volume=25|issue=9|year=2014|pages=1691–1700|issn=0923-7534|doi=10.1093/annonc/mdu047}}</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
==Pathogenesis== | ==Pathogenesis== | ||
Revision as of 13:42, 2 December 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] There are no characteristic findings of mast cell leukemia on gross pathology.[4] On microscopic histopathological analysis, multifocal sheets, and clusters of mast cells in bone marrow sections are findings of mast cell leukemia.[5]
Pathophysiology
Pathogenesis
- Mutation of c-KIT is a hallmark of the mast cell leukemia.
- 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]
Genetics
Genes involved in the pathogenesis of mast cell leukemia include:[1][2][3]
- KIT D816V
- non-KIT D816V
Associated conditions
Mast cell leukemia may be associated with systemic mastocytosis.[2]
Gross Pathology
There are no characteristic findings of mast cell leukemia on gross pathology. Gross specimens are not seen typically.[4]
Microscopic Pathology
On microscopic histopathological analysis, findings of mast cell leukemia include:[5]
- Multifocal sheets of mast cells
- Clusters of mast cells
Immunohistochemistry
- Atypical mast cells express multiple surface antigens such as:[1]
- The role of these antigens is however not yet understood.
- CD2 and CD25 antigens are important markers.
- 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 2.2 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.
- ↑ 4.0 4.1 Horvai AE, Link TM. Bone and Soft Tissue Pathology. Elsevier Health Sciences (2012). http://books.google.com?id=p2DV6VWdXx8C. Accessed on November 30, 2015.
- ↑ 5.0 5.1 Valent, P.; Sotlar, K.; Sperr, W. R.; Escribano, L.; Yavuz, S.; Reiter, A.; George, T. I.; Kluin-Nelemans, H. C.; Hermine, O.; Butterfield, J. H.; Hagglund, H.; Ustun, C.; Hornick, J. L.; Triggiani, M.; Radia, D.; Akin, C.; Hartmann, K.; Gotlib, J.; Schwartz, L. B.; Verstovsek, S.; Orfao, A.; Metcalfe, D. D.; Arock, M.; Horny, H.- P. (2014). "Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal". Annals of Oncology. 25 (9): 1691–1700. doi:10.1093/annonc/mdu047. ISSN 0923-7534.