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

Volumn 89, Issue 1, 2012, Pages 47-52

  Georgin Lavialle, Sophie ^a,b   Lhermitte, Ludovic ^a,c   Suarez, Felipe ^d   Yang, Ying ^e,f   Letard, Sébastien ^e,f   Hanssens, Katia ^e,f   Feger, Frédéric ^a   Renand, Amédée ^a   Brouze, Chantal ^c   Canioni, Danielle ^a,d   Asnafi, Vahid ^c   Chandesris, Marie Olivia ^a,d   Aouba, Achille ^d   Gineste, Paul ^g   Macintyre, Elizabeth ^c   Mansfield, Colin D ^g   Moussy, Alain ^g   Lepelletier, Yves ^a   Dubreuil, Patrice ^e,f   Hermine, Olivier ^a,d  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^c CNRS   (France)

^d UNIVERSITÉ PARIS DESCARTES   (France)

^e INSERM   (France)

^f INSTITUT PAOLI CALMETTES   (France)

^g AB Science   (France)

Author keywords

C kit mutation; Masitinib; Mast cell leukemia; Mastocytosis; Treatment

Indexed keywords

HISTAMINE; MASITINIB; TRYPTASE;

AGED; ANIMAL CELL; ARTICLE; CASE REPORT; FEMALE; GENE MUTATION; HISTAMINE BLOOD LEVEL; HUMAN; IN VITRO STUDY; MAST CELL; MAST CELL LEUKEMIA; NONHUMAN; NUCLEOTIDE SEQUENCE; ONCOGENE C KIT; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SYSTEMIC MASTOCYTOSIS; TREATMENT DURATION; TREATMENT RESPONSE;

AGED; ANIMALS; ANTINEOPLASTIC AGENTS; BASE SEQUENCE; CERCOPITHECUS AETHIOPS; COS CELLS; FEMALE; HUMANS; IMMUNOPHENOTYPING; LEUKEMIA, MAST-CELL; MAST CELLS; MUTATION; NEOPLASTIC CELLS, CIRCULATING; PROTEIN KINASE INHIBITORS; PROTO-ONCOGENE PROTEINS C-KIT; THIAZOLES; TRYPTASES;

EID: 84862578484     PISSN: 09024441     EISSN: 16000609     Source Type: Journal    
DOI: 10.1111/j.1600-0609.2012.01761.x     Document Type: Article

References (29)

1. Horny HP, Parwaresch MR, Lennert K. Bone marrow findings in systemic mastocytosis. Hum Pathol 1985;16:808-14.
2. Lennert K, Parwaresch MR. Mast cells and mast cell neoplasia: a review. Histopathology 1979;3:349-65.
3. Metcalfe DD. Classification and diagnosis of mastocytosis: current status. J Invest Dermatol 1991;96:2S-4S.
4. Valent P, Akin C, Escribano L, et al. Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 2007;37:435-53.
5. Valent P, Horny HP, Escribano L, et al. Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk Res 2001;25:603-25.
6. Valent P, Horny H-P, Escribano L, Longley BJ, Li CY, Schwartz LB, ed. Mastocytosis (Mast cell disease). World Health Organization (WHO) Classification of Tumours. Lyon, France: IARC Press, 2001.
7. Valent P, Akin C, Sperr WR, Horny HP, Arock M, Lechner K, Bennett JM, Metcalfe DD. Diagnosis and treatment of systemic mastocytosis: state of the art. Br J Haematol 2003;122:695-717.
8. Akin C, Fumo G, Yavuz AS, Lipsky PE, Neckers L, Metcalfe DD. A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib. Blood 2004;103:3222-5.
9. Pagano L, Valentini CG, Caira M, et al. Advanced mast cell disease: an Italian hematological multicenter experience. Int J Hematol 2008;88:483-8.
10. Pardanani A, Elliott M, Reeder T, Li CY, Baxter EJ, Cross NC, Tefferi A. Imatinib for systemic mast-cell disease. Lancet 2003;362:535-6.
11. Vega-Ruiz A, Cortes JE, Sever M, Manshouri T, Quintas-Cardama A, Luthra R, Kantarjian HM, Verstovsek S. Phase II study of imatinib mesylate as therapy for patients with systemic mastocytosis. Leuk Res 2009;33:1481-4.
12. Zhang LY, Smith ML, Schultheis B, Fitzgibbon J, Lister TA, Melo JV, Cross NC, Cavenagh JD. A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leuk Res 2006;30:373-8.
13. Bellamy F, Bader T, Moussy A, Hermine O. Pharmacokinetics of masitinib in cats. Vet Res Commun 2009;33:831-7.
14. Dubreuil P, Letard S, Ciufolini M, et al. Masitinib (AB1010), a potent and selective tyrosine kinase inhibitor targeting KIT. PLoS ONE 2009;4:e7258.
15. Hahn KA, Ogilvie G, Rusk T, et al. Masitinib is safe and effective for the treatment of canine mast cell tumors. J Vet Intern Med 2008;22:1301-9.
16. Letard S, Yang Y, Hanssens K, Palmerini F, Leventhal PS, Guery S, Moussy A, Kinet JP, Hermine O, Dubreuil P. Gain-of-function mutations in the extracellular domain of KIT are common in canine mast cell tumors. Mol Cancer Res 2008;6:1137-45.
17. Humbert M, Casteran N, Letard S, et al. Masitinib combined with standard gemcitabine chemotherapy: in vitro and in vivo studies in human pancreatic tumour cell lines and ectopic mouse model. PLoS ONE 2010;5:e9430.
18. Humbert M, de Blay F, Garcia G, et al. Masitinib, a c-kit/PDGF receptor tyrosine kinase inhibitor, improves disease control in severe corticosteroid-dependent asthmatics. Allergy 2009;64:1194-201.
19. Le Cesne A, Blay JY, Bui BN, et al. Phase II study of oral masitinib mesilate in imatinib-naive patients with locally advanced or metastatic gastro-intestinal stromal tumour (GIST). Eur J Cancer 2010;46:1344-51.
20. Soria JC, Massard C, Magne N, Bader T, Mansfield CD, Blay JY, Bui BN, Moussy A, Hermine O, Armand JP. Phase 1 dose-escalation study of oral tyrosine kinase inhibitor masitinib in advanced and/or metastatic solid cancers. Eur J Cancer 2009;45:2333-41.
21. Tebib J, Mariette X, Bourgeois P, et al. Masitinib in the treatment of active rheumatoid arthritis: results of a multicentre, open-label, dose-ranging, phase 2a study. Arthritis Res Ther 2009;11:R95.
22. Bodemer C, Hermine O, Palmerini F, et al. Pediatric mastocytosis is a clonal disease associated with D(816)V and other activating c-KIT mutations. J Invest Dermatol 2009;130:804-15.
23. Lasota J, Miettinen M. Clinical significance of oncogenic KIT and PDGFRA mutations in gastrointestinal stromal tumours. Histopathology 2008;53:245-66.
24. Mital A, Piskorz A, Lewandowski K, Wasag B, Limon J, Hellmann A. A case of mast cell leukaemia with exon 9 KIT mutation and good response to imatinib. Eur J Haematol 2011;86:531-5.
25. Gotlib J, Berube C, Growney JD, et al. Activity of the tyrosine kinase inhibitor PKC412 in a patient with mast cell leukemia with the D816V KIT mutation. Blood 2005;106:2865-70.
26. Noack F, Sotlar K, Notter M, Thiel E, Valent P, Horny HP. Aleukemic mast cell leukemia with abnormal immunophenotype and c-kit mutation D816V. Leuk Lymphoma 2004;45:2295-302.
27. Valentini CG, Rondoni M, Pogliani EM, et al. Mast cell leukemia: a report of ten cases. Ann Hematol 2008;87:505-8.
28. Spector MS, Iossifov I, Kritharis A, He C, Kolitz JE, Lowe SW, Allen SL. Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor beta chain and KIT V654A. Leukemia 2011;Epub ahead of print; doi: 10.1038/leu.2011.354.
29. Hermine O, Lortholary O, Leventhal PS, et al. Case-control cohort study of patients' perceptions of disability in mastocytosis. PLoS ONE 2008;3:e2266.