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Case Rep Hematol. 2012;2012:517546. Epub 2012 Sep 10.

Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive.

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  • 1Service d'Hématologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, France.


Mast cell leukemia (MCL) is a rare and aggressive disease with poor prognosis and short survival time. D816V c-KIT mutation is the most frequent molecular abnormality and plays a crucial role in the pathogenesis and development of the disease. Thus, comprehensive diagnostic investigations and molecular studies should be carefully carried out to facilitate the therapeutic choice. A MCL patient's case with rare phenotypic and genotypic characteristics is described with review of major clinical biological and therapeutic approaches in MCL.

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