Case Reports in Hematology
Volume 2012 (2012), Article ID 517546, 6 pages
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.
- S. H. Swerdlow, E. Campo, N. L. Harris, et al., Eds., WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, International Agency for Research on Cancer, Lyon, France, 2008.
- A. Tefferi and A. Pardanani, “Systemic mastocytosis: current concepts and treatment advances,” Current Hematology Reports, vol. 3, no. 3, pp. 197–202, 2004.
- W. R. Sperr, L. Escribano, J. H. Jordan et al., “Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis,” Leukemia Research, vol. 25, no. 7, pp. 529–536, 2001.
- P. Valent, H. P. Horny, L. Escribano et al., “Diagnostic criteria and classification of mastocytosis: a consensus proposal,” Leukemia Research, vol. 25, no. 7, pp. 603–625, 2001.
- F. Lanternier, A. Cohen-Akenine, F. Palmerini et al., “Phenotypic and genotypic characteristics of mastocytosis according to the age of onset,” PLoS One, vol. 3, no. 4, Article ID e1906, 2008.
- K. H. Lim, A. Tefferi, T. L. Lasho et al., “Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors,” Blood, vol. 113, no. 23, pp. 5727–5736, 2009.
- C. Teodosio, A. C. García-Montero, M. Jara-Acevedo et al., “An immature immunophenotype of bone marrow mast cells predicts for multilineage D816V KIT mutation in systemic mastocytosis,” Leukemia, vol. 26, no. 5, pp. 951–958, 2012.
- A. C. Garcia-Montero, M. Jara-Acevedo, C. Teodosio et al., “KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients,” Blood, vol. 108, no. 7, pp. 2366–2372, 2006.
- G. H. Schernthaner, J. H. Jordan, M. Ghannadan et al., “Expression, epitope analysis, and functional role of the LFA-2 antigen detectable on neoplastic mast cells,” Blood, vol. 98, no. 13, pp. 3784–3792, 2001.
- L. Escribano, A. Orfao, J. Villarrubia et al., “Sequential immunophenotypic analysis of mast cells in a case of systemic mast cell disease evolving to a mast cell leukemia,” Communications in Clinical Cytometry, vol. 30, no. 2, pp. 98–102, 1997.
- L. Escribano, B. Diaz-Agustin, A. López et al., “Immunophenotypic analysis of mast cells in mastocytosis: When and How to do it. Proposals of the Spanish network on mastocytosis (REMA),” Cytometry B, vol. 58, no. 1, pp. 1–8, 2004.
- K. Sotlar, S. Cerny-Reiterer, K. Petat-Dutter et al., “Aberrant expression of CD30 in neoplastic mast cells in high-grade mastocytosis,” Modern Pathology, vol. 24, no. 4, pp. 585–595, 2011.
- B. J. Longley Jr., D. D. Metcalfe, M. Tharp et al., “Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis,” Proceedings of the National Academy of Sciences of the United States of America, vol. 96, no. 4, pp. 1609–1614, 1999.
- B. J. Longley, L. Tyrrell, S. Z. Lu et al., “Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm,” Nature Genetics, vol. 12, no. 3, pp. 312–314, 1996.
- Y. Ma, S. Zeng, D. D. Metcalfe et al., “The c-KIT mutation causing human mastocytosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory-type mutations,” Blood, vol. 99, no. 5, pp. 1741–1744, 2002.
- B. J. Longley, M. J. Reguera, and Y. Ma, “Classes of c-KIT activating mutations: proposed mechanisms of action and implications for disease classification and therapy,” Leukemia Research, vol. 25, no. 7, pp. 571–576, 2001.
- S. Georgin-Lavialle, L. Lhermitte, F. Suarez, et al., “Mast cell leukemia: identification of a new c-KIT mutation, dup(501-502), and response to masitinib, a c-KIT tyrosine kinase inhibitor,” European Journal of Haematology, vol. 89, no. 1, pp. 47–52, 2012.
- C. Akin, G. Fumo, A. S. Yavuz, P. E. Lipsky, L. Neckers, and D. D. Metcalfe, “A novel form of mastocytosis associated with a transmembrane c-KIT mutation and response to imatinib,” Blood, vol. 103, no. 8, pp. 3222–3225, 2004.
- C. G. Valentini, M. Rondoni, E. M. Pogliani et al., “Mast cell leukemia: a report of ten cases,” Annals of Hematology, vol. 87, no. 6, pp. 505–508, 2008.
- A. R. Arredondo, J. Gotlib, L. Shier et al., “Myelomastocytic leukemia versus mast cell leukemia versus systemic mastocytosis associated with acute myeloid leukemia: a diagnostic challenge,” American Journal of Hematology, vol. 85, no. 8, pp. 600–606, 2010.
- A. Mital, A. Piskorz, K. Lewandowski, B. Wasag, J. Limon, and A. Hellmann, “A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib,” European Journal of Haematology, vol. 86, no. 6, pp. 531–535, 2011.
- S. Finotto, Y. A. Mekori, and D. D. Metcalfe, “Glucocorticoids decrease tissue mast cell number by reducing the production of the c-KIT ligand, stem cell factor, by resident cells. In vitro and in vivo evidence in murine systems,” Journal of Clinical Investigation, vol. 99, no. 7, pp. 1721–1728, 1997.
- P. Casassus, N. Caillat-Vigneron, A. Martin et al., “Treatment of adult systemic mastocytosis with interferon-α: results of a multicentre phase II trial on 20 patients,” British Journal of Haematology, vol. 119, no. 4, pp. 1090–1097, 2002.
- H. C. Kluin-Nelemans, J. H. Jansen, H. Breukelman et al., “Response to interferon alfa-2b in a patient with systemic mastocytosis,” New England Journal of Medicine, vol. 326, no. 9, pp. 619–623, 1992.
- A. S. Worobec, A. S. Kirshenbaum, L. B. Schwartz, and D. D. Metcalfe, “Treatment of three patients with systemic mastocytosis with interferon alpha-2b,” Leukemia and Lymphoma, vol. 22, no. 5-6, pp. 501–508, 1996.
- A. Pardanani, A. V. Hoffbrand, J. H. Butterfield, and A. Tefferi, “Treatment of systemic mast cell disease with 2-chlorodeoxyadenosine,” Leukemia Research, vol. 28, no. 2, pp. 127–131, 2004.
- H. C. Kluin-Nelemans, J. M. Oldhoff, J. J. van Doormaal et al., “Cladribine therapy for systemic mastocytosis,” Blood, vol. 102, no. 13, pp. 4270–4276, 2003.
- H. J. Droogendijk, H. J. C. Kluin-Nelemans, J. J. van Doormaal, A. P. Oranje, A. A. van de Loosdrecht, and P. L. A. van Daele, “Imatinib mesylate in the treatment of systemic mastocytosis: a phase II trial,” Cancer, vol. 107, no. 2, pp. 345–351, 2006.
- A. Vega-Ruiz, J. E. Cortes, M. Sever et al., “Phase II study of imatinib mesylate as therapy for patients with systemic mastocytosis,” Leukemia Research, vol. 33, no. 11, pp. 1481–1484, 2009.
- M. M. Schittenhelm, S. Shiraga, A. Schroeder et al., “Dasatinib (BMS-354825), a dual SRC/ABL kinase inhibitor, inhibits the kinase activity of wild-type, juxtamembrane, and activation loop mutant KIT isoforms associated with human malignancies,” Cancer Research, vol. 66, no. 1, pp. 473–481, 2006.
- N. P. Shah, F. Y. Lee, R. Luo, Y. Jiang, M. Donker, and C. Akin, “Dasatinib (BMS-354825) inhibits , an imatinib-resistant activating mutation that triggers neoplastic growth in most patients with systemic mastocytosis,” Blood, vol. 108, no. 1, pp. 286–291, 2006.
- S. Verstovsek, A. Tefferi, J. Cortes et al., “Phase II study of dasatinib in philadelphia chromosome—negative acute and chronic myeloid diseases, including systemic mastocytosis,” Clinical Cancer Research, vol. 14, no. 12, pp. 3906–3915, 2008.
- E. Weisberg, P. W. Manley, W. Breitenstein et al., “Characterization of AMN107, a selective inhibitor of native and mutant Bcr-Abl,” Cancer Cell, vol. 7, no. 2, pp. 129–141, 2005.
- S. Verstovsek, C. Akin, T. Manshouri et al., “Effects of AMN107, a novel aminopyrimidine tyrosine kinase inhibitor, on human mast cells bearing wild-type or mutated codon 816 c-KIT,” Leukemia Research, vol. 30, no. 11, pp. 1365–1370, 2006.
- K. V. Gleixner, M. Mayerhofer, K. J. Aichberger et al., “PKC412 inhibits in vitro growth of neoplastic human mast cells expressing the D816V-mutated variant of KIT: comparison with AMN107, imatinib, and cladribine (2CdA) and evaluation of cooperative drug effects,” Blood, vol. 107, no. 2, pp. 752–759, 2006.
- J. Gotlib, C. Berubé, J. D. Growney et al., “Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation,” Blood, vol. 106, no. 8, pp. 2865–2870, 2005.