Mast cell leukemia pathophysiology

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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], Sogand Goudarzi, MD [3]


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]


  • Mutation of 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]
  • Mutations in SRSF2, ASXL1 or RUNX1 are founded in mast cell leukemia patient.[6]
  • The majority patients with mast cell leukemai have signs of organ damage.[6]


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



  • Atypical mast cells express multiple surface antigens such as:[1]


  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 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. 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. 4.0 4.1 Horvai AE, Link TM. Bone and Soft Tissue Pathology. Elsevier Health Sciences (2012). Accessed on November 30, 2015.
  5. 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.
  6. 6.0 6.1 Jawhar, Mohamad; Schwaab, Juliana; Meggendorfer, Manja; Naumann, Nicole; Horny, Hans-Peter; Sotlar, Karl; Haferlach, Torsten; Schmitt, Karla; Fabarius, Alice; Valent, Peter; Hofmann, Wolf-Karsten; Cross, Nicholas C.P.; Metzgeroth, Georgia; Reiter, Andreas (2017). "The clinical and molecular diversity of mast cell leukemia with or without associated hematologic neoplasm". Haematologica. 102 (6): 1035–1043. doi:10.3324/haematol.2017.163964. ISSN 0390-6078.
  7. Image of peripheral blood smear of acute mast cell leukemia. Wikipedia (2015). Accessed on December 2, 2015

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