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Case Reports in Hematology
Volume 2012 (2012), Article ID 517546, 6 pages
http://dx.doi.org/10.1155/2012/517546
Case Report

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

1Service d'Hématologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, France
2Service de Médecine Interne, Hôpital Européen Georges Pompidou, Université Paris Descartes, Paris Sorbonne Cité, Assistance Publique-Hôpitaux de Paris, 20 Rue Leblanc, 75015, France
3Centre de Référence des Mastocytoses, Faculté de Médecine et AP-HP Necker-Enfants Malades, 156 Rue de Vaugirard, 75743 Paris Cedex 15, France
4Service d'Hématologie Adultes, Université Paris Descartes, Paris Sorbonne Cité, Faculté de Médecine et AP-HP Necker-Enfants Malades, 149 Rue des Sèvres, 75743 Paris Cedex 15, France
5Laboratoire d'Hématologie Biologique et UMR CNRS 8147, Université Paris Descartes, Paris Sorbonne Cité, Faculté de Médecine et AP-HP Necker-Enfants Malades, 161 Rue des Sèvres, 75743 Paris Cedex 15, France
6Laboratoire de Biologie et de Cytologie, Centre Hospitalier Universitaire, Avenue Laennec, 80054 Amiens, France
7Service d'Anatomie-Pathologie, Necker-Enfants Malades, 149 Rue des Sèvres, 75743 Paris Cedex 15, France
8INSERM UMR 891, Centre de Recherche en Cancérologie de Marseille, Laboratoire d'Hématopoïèse Moléculaire et Fonctionnelle, 13009 Marseille, France
9University Hospital of Amiens, Department of Clinical Hematology, Avenue Laennec, 80054 Amiens, Cedex 1, France
10CNRS UMR 8147, Hôpital Necker-Enfants Malades, 149 Rue des Sèvres, 75743 Paris Cedex 15, France
11Service de Médecine Interne, Centre Hospitalier Universitaire, 44000 Nantes, France

Received 3 June 2012; Accepted 16 July 2012

Academic Editors: K. Konstantopoulos, A. Ohsaka, and J. Várkonyi

Copyright © 2012 Magalie Joris et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.