Mast cell leukemia pathophysiology: Difference between revisions
Nawal Muazam (talk | contribs) No edit summary |
Nawal Muazam (talk | contribs) No edit summary |
||
| Line 44: | Line 44: | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
{{Hematological malignancy histology}} | |||
{{WikiDoc Help Menu}} | |||
{{WikiDoc Sources}} | |||
[[Category:Disease]] | |||
[[Category:Types of cancer]] | |||
[[Category:Oncology]] | |||
Revision as of 15:36, 1 December 2015
|
Mast cell leukemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Mast cell leukemia pathophysiology On the Web |
|
American Roentgen Ray Society Images of Mast cell leukemia pathophysiology |
|
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] 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]
- 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.
- 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.