Mastocytosis cells bearing a c-kit activating point mutation are characterized by hypersensitivity to stem cell factor and increased apoptosis

British Journal of Haematology

Volumn 108, Issue 4, 2000, Pages 729-736

  Dror, Yigal ^a,c   Leaker, Michael ^a   Caruana, Georgina ^b   Bernstein, Alan ^b   Freedman, Melvin H ^a  

^a Research Institute   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

Apoptosis; C kit; Mastocytosis; Myelodysplastic syndrome; Stem cell factor

Indexed keywords

STEM CELL FACTOR; STEM CELL FACTOR RECEPTOR;

AMINO ACID SUBSTITUTION; APOPTOSIS; ARTICLE; CASE REPORT; CELL INFILTRATION; CLONOGENESIS; FEMALE; HUMAN; MAST CELL; MASTOCYTOSIS; MONONUCLEAR CELL; MYELODYSPLASTIC SYNDROME; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

APOPTOSIS; BONE MARROW EXAMINATION; CELL COUNT; CELLS, CULTURED; CHILD; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MAST CELLS; MASTOCYTOSIS; MYELODYSPLASTIC SYNDROMES; POINT MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; STEM CELL FACTOR;

EID: 0034075483     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2000.01935.x     Document Type: Article

References (30)

1. Beghini, A., Cairoli, R., Morra, E. & Larizza, L. (1998) In vivo differentiation of mast cells from acute myeloid leukaemia blasts carrying a novel activating ligand-independent C-kit mutation. Blood Cells and Molecular Diseases. 24, 262-270.
2. Bernstein, I.D., Andrews, R.G. & Zsebo, K.M. (1991) Recombinant human stem cell factor enhances the formation of colonies by CD34+ and CD34+lin-cells, and the generation of colony-forming cell progeny from CD34+lin-cells cultured with interleukin-3, granulocyte colony-stimulating factor, or granulocyte-macrophage colony-stimulating factor. Blood, 77, 2316-2321.
3. Bogdanovic, A.D., Jankovic, G.M., Colovic, M.D., Trpinac, D.P. & Bumbasirevic, V.Z. (1996) Apoptosis in bone marrow of myelodysplastic syndrome patients. Blood, 87, 3064-3070.
4. Bowen, D.T., Padua, R.A., Burnett, A.K., deCastro, C. & Kaufman, R.E. (1993) Two new polymorphisms but no mutations of the KIT gene in patients with myelodysplasia at positions corresponding to human FMS and murine W locus mutational hot spots. Leukemia, 7, 1883-1885.
5. Enerback, L. (1966) Mast cells in rat gastrointestinal mucosa. 2. Dye-binding and metachromatic properties. Acta Pathologica et Microbiologica Scandinavica, 66, 303-312.
6. Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, H., Koshimizu, U., Sugahara, H., Butterfield, J.H., Ashman, L.K. & Kanayama, Y. (1993) Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukaemia cell line causing ligand-independent activation of c-kit product. Journal of Clinical Investigations, 92, 1736-1744.
7. Heath, I.D. (1961) Staining of sulphated mucopolysaccharides. Nature, 191, 1056-1058.
8. Kitayama, H., Tsujimura, T., Matsumura, I., Oritani, K., Ikeda, H., Ishikawa, J., Okabe, M., Suzuki, M., Yamamura, K., Matsuzawa, Y., Kitamura, Y. & Kanakura, Y. (1996) Neoplastic transformation of normal haematopoietic cells by constitutively activating mutations of c-kit receptor tyrosine kinase. Blood, 88, 995-1004.
9. Lepelley, P., Campergue, L., Grardel, N., Preudhomme, C., Cosson, A. & Fenaux, P. (1996) Is apoptosis a massive process in myelodysplastic syndromes? British Journal of Haematology. 95, 368-371.
10. Lichter, P., Tang, C., Call, K., Hermanson, G., Evans, G., Housman, D. & Ward, D. (1990) High resolution mapping of human chromosome 11 by in-situ hybridisation with cosmid clones. Science. 247, 64-69.
11. Lishner, M., Confino-Cohen, R., Mekori, Y.A., Feigin, M., Manor. Y., Goldberg, A., Ravid, M. & Amiel, A. (1996) Trisomies 9 and 8 detected by fluorescence in situ hybridisation in patients with systemic mastocytosis. Journal of Allergy and Clinical Immunology, 98, 199-204.
12. Longley, B.J., Tyrrell, L., Lu, S.Z., Ma, Y.S., Langley, K., Ding, T.G., Duffy, T., Jacobs, P., Tang. L.H. & Modlin, I. (1996) Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nature Genetics, 12, 312-314.
13. Longley, Jr. B.J., Metcalfe, D.D., Tharp. M., Wang. X., Tyrrell, L., Lu, S.Z., Heitjan, D. & Ma, Y. (1999) 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, 96, 1609-1705.
14. Metcalfe, D.D. (1991) Classification and diagnosis of mastocytosis: current status. Journal of Investigational Dermatology. 96, 2S-4S.
15. Nagata, H., Worobec, A.S., Oh, C.K., Chowdury, B.A., Tannenbaum, S., Suzuki, Y. & Metcalfe, D.D. (1995) Identification of point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells from patients who have mastocytosis with an associated haematologic disorder. Proceedings of the National Academy of Sciences of the United States of America. 92, 10560-10564.
16. Nakahata, T., Spicer, S.S., Cantey, J.R. & Ogawa, M. (1982) Clonal assay of mouse mast cell colonies in methylcellulose culture. Blood, 60, 352-361.
17. Piao, X. & Bernstein, A. (1996) A point mutation in the catalytic domain of c-kit induces growth factor independence, tumorigenicity. and differentiation of mast cells. Blood. 87, 3117-3123.
18. Piao, X., Paulson, R., van der Geer, P., Pawson, T. & Bernstein, A. (1996) Oncogenic mutation in the kit receptor tyrosine kinase alters substrate specificity and induces degradation of the protein tyrosine phosphatase SHP-1. Proceedings of the National Academy of Sciences of the United States of America. 93, 14665-14669.
19. Pignon, J.M., Giraudier, S., Duquesnoy, P., Jouault, H., Imbert, M., Vainchenker, W., Vernant, J.P. & Tulliez, M. (1997) A new c-kit mutation in a case of aggressive mast cell disease. British Journal of Haematology. 96, 374-376.
20. Rajapaksa, R., Ginzton, N., Rott, L.S. & Greenberg, P.L. (1996) Altered oncoprotein expression and apoptosis in myelodysplastic syndrome marrow cells. Blood. 88, 4275-4287.
21. Ratajczak, M.Z., Luger, S.M., DeRiel, K., Abrahm, J., Calabretta, B. & Gewirtz, A.M. (1992) Role of the KIT protooncogene in normal and malignant human haematopoiesis. Proceedings of the National Academy of Sciences of the United States of America, 89, 1992.
22. Raza, A., Gezer, S., Mundle, S., Gao, X.Z., Alvi, S., Borok, R., Rifkin, S., Iftikhar, A., Shetty, V., Parcharidou, A., Loew, J., Marcus, R., Kahn, Z., Chaney, C., Shoel. J., Gregory, S. & Presley, H. (1995) Apoptosis in bone marrow biopsy samples involving stromal and haematopoietic cells in 50 patients with myelodysplastic syndromes. Blood, 86, 268-276.
23. Reith, A.D., Ellis, C., Lyman, S.D., Anderson, D.M., Williams, D.E., Bernstein, A. & Pawson, T. (1991) Signal transduction by normal isoforms and W mutant variants of the Kit receptor tyrosine kinase. EMBO Journal, 10, 2451-2454.
24. Rottapel, R., Reedijk, M., Williams, D.K., Lyman, S.D., Anderson, D.M., Pawson, T. & Bernstein, A. (1991) The Steel/W transduction pathway: kit autophosphorylation and its association with a unique subset of cytoplasmic signalling proteins is induced by the Steel factor. Molecular and Cellular Biology. 11, 3043-3051.
25. Tsujimura, T. (1996) Role of c-kit receptor tyrosine kinase in the development, survival and neoplastic transformation of mast cells. Pathology International, 46, 933-937.
26. Tsujimura, T., Furitsu, T., Morimoto, M., Isozaki, K., Nomura, S., Matsuzawa, Y., Kitamura, Y. & Kanakura, Y. (1994) Ligand-independent activation of c-kit receptor tyrosine kinase in a murine mastocytoma cell line P-815 generated by a point mutation. Blood, 83, 2619-2626.
27. Tsujimura, T., Furitsu, T., Morimoto, M., Kanayama, Y., Nomura, S., Matsuzawa, Y., Kitamura, Y. & Kanakura, Y. (1995) Substitution of an aspartic acid results in constitutive activation of c-kit receptor tyrosine kinase in a rat tumour mast cell line RBL-2H3. International Archives of Allergy and Immunology. 106, 377-385.
28. Worobec, A.S., Semere, T., Nagata, H. & Metcalfe, D.D. (1998) Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer, 83, 2120-2129.
29. Yarden, Y., Kuang, W.J., Yang-Feng, T., Coussens, L., Munemitsu, S., Dull, T.J., Chen, E., Schlessinger, J., Francke, U. & Ullrich, A. (1987) Human proto-oncogene c-ki: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO Journal, 6, 3341-3351.
30. Yarden, Y. & Ullrich, A. (1988) Growth factor receptor tyrosine kinases. Annul Review in Biochemistry, 57, 443-449.