DISEASE: Mast-cell leukemia

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

Gene

KIT (mutation) [HSA:3815] [KO:K05091]

Drug

Imatinib mesylate [DR:D01441]
Midostaurin [DR:D05029]

Other DBs

ICD-11:

2A21.00

ICD-10:

C94.3

MeSH:

D007946

Reference

PMID:23243287

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

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

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

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

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

» Japanese version

All links

Drug (2)   
   KEGG DRUG (2)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (5)   
   PubMed (5)   
All databases (9)   

Download RDF