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Posted by on Jun 14, 2013 in Medical Journals |

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

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

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

Joris M, Georgin-Lavialle S, Chandesris MO, Lhermitte L, Claisse JF, Canioni D, Hanssens K, Damaj G, Hermine O, Hamidou M.


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.

PMID: 22997594 [PubMed] PMCID: PMC3444844 Free PMC Article