Analysis of the surface expression of c-kit and occurrence of the c-kit Asp816Val activating mutation in T cells, B cells, and myelomonocytic cells in patients with mastocytosis

Experimental Hematology

Volumn 28, Issue 2, 2000, Pages 140-147

  Akin, Cem ^a   Kirshenbaum, Arnold S ^a   Semere, Tekli ^a   Worobec, Alexandra S ^a   Scott, Linda M ^a   Metcalfe, Dean D ^a  

^a NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

c kit; Hematopoiesis; Mastocytosis; Mutation

Indexed keywords

STEM CELL FACTOR;

ADULT; ARTICLE; B LYMPHOCYTE ACTIVATION; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEMATOPOIESIS; HUMAN; MALE; MAST CELL; MASTOCYTOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTO ONCOGENE; SKIN BIOPSY; T LYMPHOCYTE ACTIVATION;

ADULT; AGED; B-LYMPHOCYTES; CELL LINEAGE; FEMALE; HUMANS; INFANT; MALE; MASTOCYTOSIS; MIDDLE AGED; MONOCYTES; MUTATION; PROTO-ONCOGENE PROTEINS C-KIT; STEM CELL FACTOR; T-LYMPHOCYTES;

EID: 0033956308     PISSN: 0301472X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0301-472X(99)00145-9     Document Type: Article

References (31)

1. Metcalfe D.D. Classification and diagnosis of mastocytosis. current status J Invest Dermatol. 96:1991;2S.
2. Lawrence J.B., Friedman B.S., Travis W.D., Chinchilli V.M., Metcalfe D.D., Gralnick H.R. Hematologic manifestations of systemic mast cell disease. a prospective study of laboratory and morphologic features and their relation to prognosis Am J Med. 91:1991;612.
3. Parker R.I. Hematologic aspects of mastocytosis. II: management of hematologic disorders in association with systemic mast cell disease J Invest Dermatol. 96:1991;52S.
4. Nagata H., Worobec A.S., Oh C.K., Chowdhury B.A., Tannenbaum S., Suzuki Y., Metcalfe D.D. Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc Natl Acad Sci U S A. 92:1995;10560.
5. 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. Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis. establishment of clonality in a human mast cell neoplasm Nat Genet. 12:1996;312.
6. Rottem M., Okada T., Goff J.P., Metcalfe D.D. Mast cells cultured from the peripheral blood of normal donors and patients with mastocytosis originate from a CD34+/Fc epsilon RI- cell population. Blood. 84:1994;2489.
7. Parolini O., Berardelli S., Riedl E., Bello-Fernandez C., Strobl H., Majdic O., Knapp W. Expression of Wiskott-Aldrich syndrome protein (WASP) gene during hematopoietic differentiation. Blood. 90:1997;70.
8. Metcalfe D.D. Mastocytosis. Bennett J.C., Plum F. Cecil textbook of medicine. 20th ed:1996;1435 WB Saunders, Philadelphia.
9. Metcalfe D.D. Conclusions. J Invest Dermatol. 96:1991;64S.
10. Aukrust P., Svardal A.M., Muller F., Lunden B., Berge R.K., Ueland P.M., Froland S.S. Increased levels of oxidized glutathione in CD4+ lymphocytes associated with disturbed intracellular redox balance in human immunodeficiency virus type 1 infection. Blood. 86:1995;258.
11. Funderud S., Erikstein B., Asheim H.C., Nustad K., Stokke T., Blomhoff H.K., Holte H., Smeland E.B. Functional properties of CD19+ B lymphocytes positively selected from buffy coats by immunomagnetic separation. Eur J Immunol. 20:1990;201.
12. Boyum A (1968) Isolation of mononuclear cells and granulocytes from human blood. Isolation of monuclear cells by one centrifugation, and of granulocytes by combining centrifugation and sedimentation at 1 g. Scand J Clin Lab Invest Suppl 97:77.
13. Chomczynski P., Sacchi N. Single-step method of RNA isolation by acid guanidinium thiocyanate- phenol-chloroform extraction. Anal Biochem. 162:1987;156.
14. Prussin C., Metcalfe D.D. Detection of intracytoplasmic cytokine using flow cytometry and directly conjugated anti-cytokine antibodies. J Immunol Methods. 188:1995;117.
15. Worobec A.S., Semere T., Nagata H., Metcalfe D.D. Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer. 83:1998;2120. [In Process Citation].
16. Furitsu T., Tsujimura T., Tono T., Ikeda H., Kitayama H., Koshimizu U., Sugahara H., Butterfield J.H., Ashman L.K., Kanayama Y.et al. Identification of mutations in the coding sequence of the proto- oncogene c-kit in a human mast cell leukemia cell line causing ligand- independent activation of c-kit product. J Clin Invest. 92:1993;1736.
17. Hashimoto K., Tsujimura T., Moriyama Y., Yamatodani A., Kimura M., Tohya K., Morimoto M., Kitayama H., Kanakura Y., Kitamura Y. Transforming and differentiation-inducing potential of constitutively activated c-kit mutant genes in the IC-2 murine interleukin-3-dependent mast cell line. Am J Pathol. 148:1996;189.
18. Kitayama H., Kanakura Y., Furitsu T., Tsujimura T., Oritani K., Ikeda H., Sugahara H., Mitsui H., Kanayama Y., Kitamura Y.et al. Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. Blood. 85:1995;790.
19. Kitayama H., Tsujimura T., Matsumura I., Oritani K., Ikeda H., Ishikawa J., Okabe M., Suzuki M., Yamamura K., Matsuzawa Y., Kitamura Y., Kanakura Y. Neoplastic transformation of normal hematopoietic cells by constitutively activating mutations of c-kit receptor tyrosine kinase. Blood. 88:1996;995.
20. Longley B.J. Jr., Metcalfe D.D., Tharp M., Wang X., Tyrrell L., Lu S., Heitjan D., Ma Y. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci U S A. 96:1999;1609.
21. Kirshenbaum A.S., Kessler S.W., Goff J.P., Metcalfe D.D. Demonstration of the origin of human mast cells from CD34+ bone marrow progenitor cells. J Immunol. 146:1991;1410.
22. Cumano A., Paige C.J., Iscove N.N., Brady G. Bipotential precursors of B cells and macrophages in murine fetal liver. Nature. 356:1992;612.
23. Kee B.L., Cumano A., Iscove N.N., Paige C.J. Stromal cell independent growth of bipotent B cell-macrophage precursors from murine fetal liver. Int Immunol. 6:1994;401.
24. Borzillo G.V., Ashmun R.A., Sherr C.J. Macrophage lineage switching of murine early pre-B lymphoid cells expressing transduced fms genes. Mol Cell Biol. 10:1990;2703.
25. Davidson WF, Pierce JH, Rudikoff S, Morse HC (1988) Relationships between B cell and myeloid differentiation. Studies with a B lymphocyte progenitor line, HAFTL-1. J Exp Med 168:389.
26. Kirshenbaum A.S., Goff J.P., Semere T., Metcalfe D.D. Demonstration that human mast cells arise from a progenitor cell population that is CD34+, c-kit+, and expresses amonipeptidase N (CD13). Blood. 94:1999;2333.
27. Billips L.G., Petitte D., Dorshkind K., Narayanan R., Chiu C.P., Landreth K.S. Differential roles of stromal cells, interleukin-7, and kit-ligand in the regulation of B lymphopoiesis. Blood. 79:1992;1185.
28. Matsuzaki Y., Gyotoku J., Ogawa M., Nishikawa S., Katsura Y., Gachelin G., Nakauchi H. Characterization of c-kit positive intrathymic stem cells that are restricted to lymphoid differentiation. J Exp Med. 178:1993;1283.
29. Afonja O., Amorosi E., Ashman L., Takeshita K. Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosis. Ann Hematol. 77:1998;183.
30. Takahashi N., Miura I., Saitoh K., Miura A.B. Lineage Involvement of stem cells bearing the Philadelphia chromosome in chronic myeloid leukemia in the chronic phase as shown by a combination of fluorescence-activated cell sorting and fluorescence in situ hybridization. Blood. 92:1998;4758.
31. Worobec A.S., Akin C., Scott L.M., Metcalfe D.D. Cytogenetic abnormalities and their lack of relationship to the Asp816Val c-kit mutation in the pathogenesis of mastocytosis. J Allergy Clin Immunol. 102:1998;523.