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Blood, 1 October 2006, Vol. 108, No. 7, pp. 2366-2372.
Prepublished online as a Blood First Edition Paper on June 1, 2006; DOI 10.1182/blood-2006-04-015545.
 Previous Article | Next Article 
Submitted April 7, 2006
Accepted May 20, 2006
KIT mutation in mast cells and other bone marrow haematopoietic cell lineages in systemic mast cell disorders. A prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients
Andres C Garcia-Montero, Maria Jara-Acevedo, Cristina Teodosio, Maria Luz Sanchez, Rosa Nunez, Aranzazu Prados, Isabel Aldanondo, Laura Sanchez, Mercedes Dominguez, Luis M Botana, Francisca Sanchez-Jimenez, Karl Sotlar, Julia Almeida, Luis Escribano, and Alberto Orfao*
Centro de Investigacion del Cancer, University of Salamanca
Hospital Ramon y Cajal
Instituto de Salud Carlos III
Universidad de Santiago de Compostela
Universidad de Malaga
University of Tuebingen
* Corresponding author; email: orfao{at}usal.es.
Despite the relevance of the c-kit/SCF signalling pathway in mast cell (MC) diseases, the exact frequency of KIT mutations in different compartments of bone marrow (BM) haematopoietic cells of individuals with systemic mastocytosis (SM), and its different diagnostic categories, remains unknown. In this study, we prospectively analyzed the presence of KIT mutations in FACS-purified populations of BM MC (n=113) and other BM cell compartments (n=67) from adults with SM. Our results show the presence of D816V KIT mutation in virtually all adults (93%) with indolent and aggressive forms of SM, except well-differentiated SM (29%), while other KIT mutations were rarely (<3%) detected. In around one third of patients with mutated MC, the KIT mutation was also detected in CD34+ haematopoietic cells and eosinophils, and, to a lower extent, in monocytic, neutrophil-lineage BM precursor cells and lymphocytes. Most poor-prognosis SM cases (81%) carried the KIT mutation in two or more BM myeloid cell populations while this was detected in a smaller proportion (27%) of indolent cases. These results would support the notion that KIT mutation is a hallmark of adult SM where it targets a pluripotent haematopoietic stem cell and may contribute to explain previously observed discrepancies in the literature.
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