Leukemia Research
Volume 26, Issue 11 , Pages 979-984 , November 2002

Detection of c-kit point mutation Asp-816 → Val in microdissected pooled single mast cells and leukemic cells in a patient with systemic mastocytosis and concomitant chronic myelomonocytic leukemia

  • Karl Sotlar

      Affiliations

    • Institute of Pathology, University of Tübingen, Liebermeisterstraße 8, D-72076 Tübingen, Germany
    • Corresponding Author InformationCorresponding author. Tel.: +49-7071-298-2265; fax: +49-7071-292-258.
    • ,
  • Claudius Fridrich

      Affiliations

    • Institute of Pathology, University of Tübingen, Liebermeisterstraße 8, D-72076 Tübingen, Germany
    • ,
  • Adelheid Mall

      Affiliations

    • Institute of Pathology, University of Tübingen, Liebermeisterstraße 8, D-72076 Tübingen, Germany
    • ,
  • Ralf Jaussi

      Affiliations

    • Institute of Pathology, University of Cologne, Cologne, Germany
    • ,
  • Burkhard Bültmann

      Affiliations

    • Institute of Pathology, University of Tübingen, Liebermeisterstraße 8, D-72076 Tübingen, Germany
    • ,
  • Peter Valent

      Affiliations

    • Department of Internal Medicine I, Division of Hematology and Hemostaseology, University of Vienna, Vienna, Austria
    • ,
  • Hans-Peter Horny

      Affiliations

    • Institute of Pathology, Medical University of Lübeck/MUL, Lübeck, Germany

Received 15 November 2001 ,Accepted 19 February 2002.

References 

  1. Valent P, Horny H-P, Escribano L, Longley BJ, Li CY, Schwartz LB, et al.  Diagnostic criteria and classification of mastocytosis: a consensus proposal. Leuk. Res. 2001;25:603–625
  2. Lennert K, Parwaresch MR. Mast cells and mast cell neoplasia: a review. Histopathology. 1979;3(5):349–365
  3. Horny H-P, Parwaresch MR, Lennert K. Bone marrow findings in systemic mastocytosis. Hum. Pathol. 1985;16(8):808–814
  4. Stein DH. Mastocytosis: a review. Pediatr. Dermatol. 1986;3:365–375
  5. Brunning RD, McKenna RW, Rosai J, Parkin JL, Risdall R. Systemic mastocytosis. Extracutaneous manifestations. Am. J. Surg. Pathol. 1983;7(5):425–438
  6. Parwaresch MR, Horny H-P, Lennert K. Tissue mast cells in health and disease. Pathol. Res. Pract. 1985;179(4/5):439–461
  7. Travis WD, Li CY, Yam LT, Bergstralh EJ, Swee RG. Significance of systemic mast cell disease with associated hematologic disorders. Cancer. 1988;62(5):965–972
  8. Horny HP, Ruck M, Wehrmann M, Kaiserling E. Blood findings in generalized mastocytosis: evidence of frequent simultaneous occurrence of myeloproliferative disorders (see comments). Br. J. Haematol. 1990;76(2):186–193
  9. Lawrence JB, Friedman BS, Travis WD, Chinchilli VM, Metcalfe DD, Gralnick HR. Hematologic manifestations of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis. Am. J. Med. 1991;91(6):612–624
  10. Sperr WR, Walchshofer S, Horny H-P, Födinger M, Simonitsch I, Fritsche PR, et al.  Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val. Br. J. Haematol. 1998;103(3):740–749
  11. Metcalfe DD, Akin C. Mastocytosis: molecular mechanisms and clinical disease heterogeneity. Leuk. Res. 2001;25(7):577–582
  12. Mitsui H, Furitsu T, Dvorak AM, Irani AM, Schwartz LB, Inagaki N, et al.  Development of human mast cells from umbilical cord blood cells by recombinant human and murine c-kit ligand. Proc. Natl. Acad. Sci. U.S.A. 1993;90(2):735–739
  13. Valent P, Spanblochl E, Sperr WR, Sillaber C, Zsebo KM, Agis H, et al.  Induction of differentiation of human mast cells from bone marrow and peripheral blood mononuclear cells by recombinant human stem cell factor/kit-ligand in long-term culture. Blood. 1992;80(9):2237–2245
  14. Ashman LK, Cambareri AC, To LB, Levinsky RJ, Juttner CA. Expression of the YB5.B8 antigen (c-kit proto-oncogene product) in normal human bone marrow. Blood. 1991;78(1):30–37
  15. Papayannopoulou T, Brice M, Broudy VC, Zsebo KM. Isolation of c-kit receptor-expressing cells from bone marrow, peripheral blood, and fetal liver: functional properties and composite antigenic profile. Blood. 1991;78(6):1403–1412
  16. Reisbach G, Bartke I, Kempkes B, Kostka G, Ellwart J, Birner A, et al.  Characterization of hemopoietic cell populations from human cord blood expressing c-kit. Exp. Hematol. 1993;21(1):74–79
  17. Ogawa M, Matsuzaki Y, Nishikawa S, Hayashi S, Kunisada T, Sudo T, et al.  Expression and function of c-kit in hemopoietic progenitor cells. J. Exp. Med. 1991;174(1):63–71
  18. Orr UA, Avivi A, Zimmer Y, Givol D, Yarden Y, Lonai P. Developmental expression of c-kit, a proto-oncogene encoded by the W locus. Development. 1990;109(4):911–923
  19. Manova K, Nocka K, Besmer P, Bachvarova RF. Gonadal expression of c-kit encoded at the W locus of the mouse. Development. 1990;110(4):1057–1069
  20. Sillaber C, Strobl H, Bevec D, Ashman LK, Butterfield JH, Lechner K, et al.  IL-4 regulates c-kit proto-oncogene product expression in human mast and myeloid progenitor cells. J. Immunol. 1991;147(12):4224–4228
  21. Pawson T. Protein-tyrosine kinases. Getting down to specifics. Nature. 1995;373(6514):477–478
  22. Kitayama H, Kanakura Y, Furitsu T, Tsujimura T, Oritani K, Ikeda H, et al.  Constitutively activating mutations of c-kit receptor tyrosine kinase confer factor-independent growth and tumorigenicity of factor-dependent hematopoietic cell lines. Blood. 1995;85(3):790–798
  23. Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, Koshimizu U, 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. 1993;92(4):1736–1744
  24. Longley BJ, Tyrrell L, Lu SZ, Ma YS, Langley K, Ding TG, et al.  Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm. Nat. Genet. 1996;12(3):312–314
  25. Worobec AS, Semere T, Nagata H, Metcalfe DD. Clinical correlates of the presence of the Asp816Val c-kit mutation in the peripheral blood mononuclear cells of patients with mastocytosis. Cancer. 1998;83(10):2120–2129
  26. Afonja O, Amorosi E, Ashman L, Takeshita K. Multilineage involvement and erythropoietin-“independent” erythroid progenitor cells in a patient with systemic mastocytosis. Ann. Hematol. 1998;77(4):183–186
  27. Longley BJ, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, et al.  Activating and dominant inactivating c-kit catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc. Natl. Acad. Sci. U.S.A. 1999;96(4):1609–1614
  28. Nagata H, Worobec AS, Oh CK, Chowdhury BA, Tannenbaum S, Suzuki Y, et al.  Identification of a point mutation in the catalytic domain of the proto-oncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder. Proc. Natl. Acad. Sci. U.S.A. 1995;92(23):10560–10564
  29. Akin C, Kirshenbaum AS, Semere T, Worobec AS, Scott LM, Metcalfe DD. 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. Exp. Hematol. 2000;28:140–147
  30. Sotlar K, Marafioti T, Griesser H, Theil J, Aepinus C, Jaussi R, et al.  Detection of c-kit mutation Asp 816 to Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukaemia. Mol. Pathol. 2000;53(4):188–193
  31. Schütze K, Lahr G. Identification of expressed genes by laser-mediated manipulation of single cells. Nat. Biotechnol. 1998;16(8):737–742
  32. Horny H-P, Sillaber C, Menke D, Kaiserling E, Wehrmann M, Stehberger B, et al.  Diagnostic value of immunostaining for tryptase in patients with mastocytosis. Am. J. Surg. Pathol. 1998;22(9):1132–1140
  33. Galli SJ. New concepts about the mast cell. N. Engl. J. Med. 1993;328(4):257–265
  34. Kröber SM, Horny HP, Ruck P, Kämmerer U, Geiselhart A, Handgretinger R, et al.  Mastocytosis: reactive or neoplastic?. J. Clin. Pathol. 1997;50(6):525–527
  35. Roehrl MH, Becker KF, Becker I, Höfler H. Efficiency of single-cell polymerase chain reaction from stained histologic slides and integrity of DNA in archival tissue. Diagn. Mol. Pathol. 1997;6(5):292–297
  36. Baghestanian M, Bankl H, Sillaber C, Beil WJ, Radaszkiewicz T, Fureder W, et al.  A case of malignant mastocytosis with circulating mast cell precursors: biologic and phenotypic characterization of the malignant clone. Leukemia. 1996;10(1):159–166

PII: S0145-2126(02)00041-3

Leukemia Research
Volume 26, Issue 11 , Pages 979-984 , November 2002

Article Tools

* Image Usage & Resolution