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

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 molecu...

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Bibliographic Details
Published in:Case reports in hematology 2012-01, Vol.2012 (2012), p.1-6
Main Authors: Georgin-Lavialle, Sophie, Joris, Magalie, Chandesris, Marie-Olivia, Lhermitte, Ludovic, Claisse, Jean-François, Canioni, Danielle, Hanssens, Katia, Damaj, Gandhi, Hermine, Olivier, Hamidou, Mohammed
Format: Article
Language:English
Subjects:
Autoimmune diseases
Case Report
Cells
Disease
Kinases
Mutation
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Summary: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.
ISSN:2090-6560
2090-6579
DOI:10.1155/2012/517546