Mast Cell Leukaemia: c-KIT Mutations Are Not Always Positive. (10th September 2012)

• Record Type: Journal Article
• Authors: Joris, Magalie; Georgin-Lavialle, Sophie; Chandesris, Marie-Olivia; Lhermitte, Ludovic; Claisse, Jean-François; Canioni, Danielle; Hanssens, Katia; Damaj, Gandhi; Hermine, Olivier; Hamidou, Mohammed
• Other Names: Konstantopoulos K. Academic Editor.; Ohsaka A. Academic Editor.; Várkonyi J. Academic Editor.
• Is Part Of: Case reports in hematology. Volume 2012(2012)
• Publication Date: 2012-09-10
• Subjects: Hematology -- Periodicals; Hematology -- Case studies -- Periodicals; Blood -- Diseases -- Periodicals; Hematology; Hematologic Diseases; Blood -- Diseases; Hematology; Electronic journals; Periodicals; Case studies; Periodicals; Case Reports; Fulltext; Internet Resources; Periodicals; 616.15
• DOI: 10.1155/2012/517546
• Languages: English
• ISSNs: 2090-6560

Abstract

Abstract : 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.