z-logo
Premium
Mast cell leukemia: identification of a new c‐Kit mutation, dup(501‐502), and response to masitinib, a c‐Kit tyrosine kinase inhibitor
Author(s) -
GeorginLavialle Sophie,
Lhermitte Ludovic,
Suarez Felipe,
Yang Ying,
Letard Sébastien,
Hanssens Katia,
Feger Frédéric,
Renand Amédée,
Brouze Chantal,
Canioni Danielle,
Asnafi Vahid,
Chandesris MarieOlivia,
Aouba Achille,
Gineste Paul,
Macintyre Elizabeth,
Mansfield Colin D.,
Moussy Alain,
Lepelletier Yves,
Dubreuil Patrice,
Hermine Olivier
Publication year - 2012
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.2012.01761.x
Subject(s) - systemic mastocytosis , mast cell , cancer research , leukemia , tyrosine kinase inhibitor , tryptase , medicine , tyrosine kinase , immunology , receptor , cancer
Abstract 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 patient’s 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.

This content is not available in your region!

Continue researching here.

Having issues? You can contact us here