KEGG   DISEASE: Mast-cell leukemiaHelp
Entry
H01511                      Disease                                

Name
Mast-cell leukemia
Description
Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; and a poor prognosis. Gain-of-function mutations in the proto-oncogene c-kit that induce constitutive kinase activity of its product, KIT protein, are characteristic of various neoplastic diseases including MCL. Downstream signaling pathways, including PI3 kinase (PI3K)/AKT, are inappropriately activated, and this is believed to contribute to the abnormal proliferation and survival of these neoplastic cells. The reason why the prognosis of patients with MCL is mostly that MCs in these patients are largely resistant against conventional drugs and targeted drugs, including tyrosine kinase inhibitors (TKI) directed against KIT D816V such as PKC412 (midostaurin).
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of haematopoietic and lymphoid tissues
   H01511  Mast-cell leukemia
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Neoplasms of haematopoietic or lymphoid tissues
   Myeloproliferative neoplasms
    2A21  Mastocytosis
     H01511  Mast-cell leukemia
BRITE hierarchy
Pathway
hsa04151 PI3K-AKT signaling pathway   
Gene
KIT (mutation) [HSA:3815] [KO:K05091]
Drug
Midostaurin [DR:D05029]
Comment
ICD-O-3: 9742/3 Mast cell leukaemia
Other DBs
ICD-11: 2A21.00
ICD-10: C94.3
MeSH: D007946
Reference
PMID:23243287 (gene, drug)
  Authors
Georgin-Lavialle S, Lhermitte L, Dubreuil P, Chandesris MO, Hermine O, Damaj G
  Title
Mast cell leukemia.
  Journal
Blood 121:1285-95 (2013)
DOI:10.1182/blood-2012-07-442400
Reference
PMID:24675021 (description, gene, marker)
  Authors
Valent P, Sotlar K, Sperr WR, Escribano L, Yavuz S, Reiter A, George TI, Kluin-Nelemans HC, Hermine O, Butterfield JH, Hagglund H, Ustun C, Hornick JL, Triggiani M, Radia D, Akin C, Hartmann K, Gotlib J, Schwartz LB, Verstovsek S, Orfao A, Metcalfe DD, Arock M, Horny HP
  Title
Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal.
  Journal
Ann Oncol 25:1691-700 (2014)
DOI:10.1093/annonc/mdu047
Reference
PMID:22997594 (gene, marker)
  Authors
Joris M, Georgin-Lavialle S, Chandesris MO, Lhermitte L, Claisse JF, Canioni D, Hanssens K, Damaj G, Hermine O, Hamidou M
  Title
Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive.
  Journal
Case Rep Hematol 2012:517546 (2012)
DOI:10.1155/2012/517546
Reference
PMID:25443885 (description, gene, marke)
  Authors
Valent P, Sotlar K, Sperr WR, Reiter A, Arock M, Horny HP
  Title
Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features.
  Journal
Leuk Res 39:1-5 (2015)
DOI:10.1016/j.leukres.2014.09.010
Reference
PMID:17949810 (description, pathway, drug)
  Authors
Kajiguchi T, Lee S, Lee MJ, Trepel JB, Neckers L
  Title
KIT regulates tyrosine phosphorylation and nuclear localization of beta-catenin in mast cell leukemia.
  Journal
Leuk Res 32:761-70 (2008)
DOI:10.1016/j.leukres.2007.08.023

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