期刊
EUROPEAN JOURNAL OF HAEMATOLOGY
卷 89, 期 1, 页码 47-52出版社
WILEY
DOI: 10.1111/j.1600-0609.2012.01761.x
关键词
mast cell leukemia; c-Kit mutation; treatment; mastocytosis; masitinib
类别
资金
- AB Science
- Fondation pour la Recherche Medicale (FRM)
- Centre National de Recherche Scientifique (CNRS)
- AFIRMM (Association Francaise pour la recherche sur le mastocyte et la mastocytose)
- INSERM, la Ligue Nationale Contre le Cancer
- ANR-MRAR (Agence Nationale pour la Recherche)
- Institut National du cancer INCa
Objective: Most patients with systemic mastocytosis bear mutations in the tyrosine kinase receptor gene c-Kit. Limited treatment options exist for mast cell leukemia, a rare form of systemic mastocytosis associated with a dire prognosis. Our aim was to investigate c-Kit mutations associated with mast cell leukemia and find new treatment for this severe form of mastocytosis. Patient and methods: We describe here a patient with mast cell leukemia characterized by 42% of circulating mast cells associated with a previously unidentified c-Kit mutation in adult mastocytosis: dup(501-502). Main findings: This patient was treated with masitinib, a novel c-Kit tyrosine kinase inhibitor, with a dramatic response observed following 3 months of treatment, including clinical improvement, disappearance of circulating mast cells, and decrease in both serum histamine and tryptase levels. In vitro and ex vivo research was performed on the patients cells and revealed constitutive c-Kit phosphorylation in mast cell leukemia. Conclusions: This case highlights the importance of sequencing all c-Kit exons when the classical D816V c-Kit mutation is not found, even in adults with SM. It also indicates that masitinib may be safe and effective for the treatment for some mast cell leukemia.
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