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

Abstract EN

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.