Evolution of urticaria pigmentosa into indolent systemic mastocytosis: Abnormal immunophenotype of mast cells without evidence of c-kit mutation ASP-816-VAL

Leukemia and Lymphoma

Volumn 44, Issue 2, 2003, Pages 313-319

  Noack, F ^a   Escribano, L ^b   Sotlar, K ^c   Nunez, R ^b   Schuetze, K ^d   Valent, P ^e   Horny, H P ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

^c UNIVERSITY OF TÜBINGEN   (Germany)

^d PALM   (Germany)

^e UNIVERSITY OF VIENNA   (Austria)

Author keywords

c kit mutation; Flow cytometry; Laser microdissection; Mast cells; Mastocytosis; Nested polymerase chain reaction

Indexed keywords

ASPARTIC ACID; MONOCLONAL ANTIBODY; STEM CELL FACTOR; TRYPTASE; VALINE;

ADULT; ANTIGEN EXPRESSION; ARTICLE; BONE MARROW; CASE REPORT; CELL INFILTRATION; CELL PROLIFERATION; CLINICAL FEATURE; CONTROLLED STUDY; ENZYME BLOOD LEVEL; FLOW CYTOMETRY; HEMATOLOGIC DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IMMUNOPHENOTYPING; MALE; MAST CELL; MAST CELL LEUKEMIA; MOLECULAR BIOLOGY; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTO ONCOGENE; REMISSION; SARCOMA; SYSTEMIC MASTOCYTOSIS; URTICARIA PIGMENTOSA;

EID: 0037299470     PISSN: 10428194     EISSN: None     Source Type: Journal    
DOI: 10.1080/1042819021000037967     Document Type: Article

References (26)

1. Nettleship, E.T.W. (1869) "Rare form of urticaria", British Medical Journal 2, 323-330.
2. Ehrlich, P. (1879) "Beiträge zur Kenntnis der granulierten Bindegewebszellen and der eosinophilen Leukozyten", Archiv der Anatomischen Physiologie 3, 166-169.
3. Unna, P. (1887) "Beiträge zur Anatomie and Pathogenese der urticaria simplex and pigmentosa", Monatschrift der praktischen Dermatologie 6, 9-18.
4. Valent, P., Horny, H.-P., Li, C.Y., Longley, B.J., Metcalfe, D., Pawaresch, R.M. and Bennett, J.M. (2001) "Mastocytosis", In: Jaffe, E.S., Harris, N.L., Stein, H. and Vardiman, V.W., eds, WHO Classification of Tumours. Pathology and Genetics. Tumours of Haematopoetic and Lymphoid Tissues (IARC Press, Lyon), pp. 291-302.
5. Valent, P. (1996) "Biology, classification and treatment of human mastocytosis", Wiener Klinische Wochenschrift 108, 385-397.
6. Valent, P., Horny, H.-P., Escribano, L., Longley, B.J., Li, C.Y., Schwartz, L.B., Marone, G., Nunez, R., Akin, C., Sotlar, K., Sperr, W.R., Wolff, K., Brunning, R.D., Parwaresch, R.M., Austen, K.F., Lennert, K., Metcalfe, D.D., Vardiman, J.W. and Bennett, J.M. (2001) "Diagnostic criteria and classification of mastocytosis: a consensus proposal", Leukemia Research 25, 603-625.
7. Longley, B.J., Tyrrell, L., Lu, S.Z., Ma, Y.S., Langley, K., Ding, T.G., Duffy, T., Jacobs, P., Tang, L.H. and 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.
8. Fodinger, M. and Mannhalter, C. (1997) "Molecular genetics and development of mast cells: implications for molecular medicine", Molecular Medicine Today 3, 131-137.
9. Furitsu, T., Tsujimura, T. and Tono, T. (2001) "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", Journal of Clinical Investigation 92, 1736-1744.
10. Valent, P., Escribano, L., Parwaresch, R.M., Schemmel, V., Schwartz, L.B., Sotlar, K., Sperr, W.R. and Horny, H.-P. (1999) "Recent advances in mastocytosis research. Summary of the Vienna Mastocytosis Meeting 1998", International Archives of Allergy and Immunology 120, 1-7.
11. Boissan, M., Feger, F., Guillosson, J.J. and Arock, M. (2000) "c-Kit and c-kit mutations in mastocytosis and other hematological diseases", Journal of Leukocyte Biology 67, 135-148.
12. Escribano, L., Navalón, R., Núñez, R., Díaz Agustín, B. and Bravo, P. (2000) "Flow cytometry immunophenotypic analysis of human mast cells", In: Robinson, J.P., Darzynkiewicz, Z., Dean, P., Orfao, A., Rabinovitch, P. and Wheeless, L., eds, Current Protocols in Cytometry (Wiley, New York), pp. 661-6618.
13. Orfao, A., Escribano, L., Villarrubia, J., Velasco, J.L., Cerveró, C., Ciudad, J., Navarro, J.L. and San Miguel, J.F. (1996) "Flow cytometric analysis of mast cells from normal and pathological human bone marrow samples. Identification and enumeration", American Journal of Pathology 149, 1493-1499.
14. Sotlar, K., Fridrich, C., Mall, A., Jaussi, R., Bultmann, B., Valent, P. and Horny, H.-P. (2002) "Detection of c-kit point mutation Asp-816 Val in microdissected single mast cells and leukemic cells in a patient with systemic mastocytosis and concomittant chronic myelomonocytic leukemia", Leukemia Research 26, 979-984.
15. Sotlar, K., Marafioti, T., Griesser, H., Theil, J., Aepinus, C., Jaussi, R., Stein, H., Valent, P. and Horny, H.P. (2000) "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", Molecular Pathology 53, 188-193.
16. Escribano, L., Diaz-Agustin, B., Bellas, C., Navalon, R., Nunez, R., Sperr, W.R., Schernthaner, G.H., Valent, P. and Orfao, A. (2001) "Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis", Leukemia Research 25, 563-570.
17. Valent, P., Horny, H.-P., Escribano, L., Longley, B.J., Li, C.Y., Schwartz, L.B., Marone, G., Nunez, R., Akin, C., Sotlar, K., Sperr, W.R., Wolff, K., Brunning, R.D., Parwaresch, R.M., Austen, K.F., Lennert, K., Metcalfe, D.D., Vardiman, J.W. and Bennett, J.M. (2001) "Diagnostic criteria and classification of mastocytosis: a consensus proposal", Leukemia Research 25, 603-625.
18. Schwartz, L.B., Sakai, K., Bradford, T.R., Ren, S., Zweiman, B., Worobec, A.S. and Metcalfe, D.D. (1995) "The alpha form of human tryptase is the predominant type present in blood at baseline in normal subjects and is elevated in those with systemic mastocytosis", Journal of Clinical Investigation 96, 2702-2710.
19. Longley, Jr., B.J., Metcalfe, D.D., Tharp, M., Wang, X., Tyrrell, L., Lu, S.Z., Heitjan, D. and 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 96, 1609-1614.
20. Jordan, J.H., Fritsche-Polanz, R., Sperr, W.R., Mitterbauer, G., Fodinger, M., Schernthaner, G.H., Christian, B.H., Gebhart, W., Chott, A., Lechner, K. and Valent, P. (2001) "A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val", Leukemia Research 25, 627-634.
21. Pignon, J.M., Giraudier, S., Duquesnoy, P., Jouault, H., Imbert, M., Vainchenker, W., Vernant, J.P. and Tulliez, M. (1997) "A new c-kit mutation in a case of aggressive mast cell disease", British Journal of Haematology 96, 374-376.
22. Nagata, H., Worobec, A.S., Oh, C.K., Chowdhury, B.A., Tannenbaum, S., Suzuki, Y. and Metcalfe, D.D. (1995) "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", Proceedings of the National Academy of Sciences 92, 10560-10564.
23. Jost, E., Michaux, L., Vanden Abeele, M., Boland, B., Latinne, D., Godfraind, C., Scheiff, J.M., Vaerman, J.L., Lecouvet, F. and Ferrant, A. (2001) "Complex karyotype and absence of mutation in the c-kit receptor in aggressive mastocytosis presenting with pelvic osteolysis, eosinophilia and brain damage", Annals of Hematology 80, 302-307.
24. Grabbe, J., Welker, P., Dippel, E. and Czarnetzki, B.M. (1994) "Stem cell factor, a novel cutaneous growth factor for mast cells and melanocytes", Archives of Dermatological Research 287, 78-84.
25. Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, H., Koshimizu, U., Sugahara, H., Butterfield, J.H., Ashman, L.K. and Kanayama, Y. (1993) "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", Journal of Clinical Investigation 92, 1736-1744.
26. Metcalfe, D.D. and Akin, C. (2001) "Mastocytosis: molecular mechanisms and clinical disease heterogeneity", Leukemia Research 25, 577-582.