Mastocytosis: Pathology, genetics, and current options for therapy

References

• Galli, S.J. (1990) "Biology of disease: New insights into "the riddle of the mast cells": microenvironmental regula-tion of mast cell development and phenotypic heterogeneity", Lab. Invest., 62, 5–33.
   Google Scholar
• Valent, P., Sillaber, C. and Bettelheim, P. (1991) "The growth and differentiation of mast cells", Frog. Growth Factor Res., 3, 27–41.
   Google Scholar
• Schwartz, L.B. (1985) The mast cell. In Allergy, vol 1, edited by A.P. Kaplan. Pp 53 — 92. Edinburgh: Churchill Livingston.
   Google Scholar
• Schwartz, L.B., Sakai, K., Bradford, T.R., Ren, S., Zwei-man, B., Worobec, AS., et al. (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", 3. Clin. Invest., 96, 2702–2710.
   Google Scholar
• Akin, C. and Metcalfe, D.D. "Surrogate markers of disease in mastocytosis", Int. Arch. Allergy Immunol., 127, 133–136.
   Google Scholar
• Sperr, W.R., Jordan, J.H., Fiegl, M., Escribano, L., Dirnhofer, S., et al. (2002) "Serum tryptase levels in patients with mastocytosis: correlation with mast cell burden and implication for defining the category of disease", Int. Arch. Allergy Immunol., 128, 136–141. Kitamura, Y., Yokoyama, M., Matsuda, H., Ohno, T. and Mori, K.J. (1981) "Spleen colony forming cell as common precursor for tissue mast cells and granulocytes", Nature, 291, 159–160.
   Google Scholar
• Kitshenbaum, AS., Goff, J.P., Kessler, S.W., Mican, J.M., Zsebo, K.M. and Metcalfe, D.D. (1992) "Effects of IL-3 and stem cell factor on the appearance of human basophils and mast cells from CD34 + pluripotent progenitor cells", 3. Immunol., 148, 772–777.
   Google Scholar
• Kirshenbaum, AS., Goff, J.P., Semere, T., Foster, B., Scott, L.M. and Metcalfe, D.D. (1999) "Demonstration that human mast cells arise from a progenitor cell population that is CD34+, c-kit+, and expresses amino-peptidase N (CD13)", Blood, 94, 2333–2342.
   Google Scholar
• Agis, H., Willheim, M., Sperr, W.R, Wilfing, A., Kr6mer, E., Kabrna, E., et al. (1993) "Monocytes do not make mast cells when cultured in the presence of SCF. Characteriza-tion of the circulating mast cell progenitor as a c-kit+, CD34+, Ly-, CD14-, CD17-, colony forming cell", I. Immunol., 151, 4221–4227.
   Google Scholar
• Rottem, M., Okada, T., Goff, J.P. and Metcalfe, D.D. (1994) "Mast cells cultured from peripheral blood of normal donors and patients with mastocytosis originate from a CD34+/ FceRI— cell population", Blood, 84, 2489–2496.
   Google Scholar
• Valent, P. (1994) "The riddle of the mast cell: c-kit Ligand as Missing Link?", Immunol. Today, 15, 111–114.
   Google Scholar
• Mitsui, H., Furitsu, T., Dvorak, A.M., Irani, A.M., Schwartz, L.B., Inagaki, N., et al. (1990) "Development of human mast cells from umbilical cord blood cells by recombinant human and murine c-kit ligand", Proc. Natl. Acad. Sci. (USA), 90, 735–739.
   Google Scholar
• Irani, A.M., Nilsson, G., Miettinen, U., Craig, S.S., Ashman, L.K., Ishizaka, T., et al. (1992) "Recombinant human stem cell factor stimulates differentiation of human mast cells from dispersed fetal liver cells", Blood, 80, 3009 — 3016.
   Google Scholar
• Valent, P., Spanblöchl, E., Sperr, W.R., Sillaber, Ch., Agis, H., Zsebo, K., et al. (1992) "Induction of differentiation of human mast cells from bone marrow and peripheral blood mononuclear cells by recombinant human stem cell factor (SCF)/kit ligand (KL) in long term culture", Blood, 80, 2237–2245.
   Google Scholar
• Galli, S.J., Tsai, M. and Wershil, B.K. (1993) "The c-kit receptor, stem cell factor, and mast cells, what each is teaching us about the others", Am. I. Pathol., 142, 965 — 974.
   Google Scholar
• Kitamura, Y., Go, S. and Hatanaka, S. (1978) "Decrease of mast cells in W/IV mice and their increase by bone marrow transplantation", Blood, 52, 447–452.
   Google Scholar
• Kitamura, Y. and Go, S. (1979) "Decreased production of mast cells in Si/Sid mice", Blood, 53, 492–497.
   Google Scholar
• Furitsu, T., Tsujimura, T., Tono, T., Ikeda, H., Kitayama, H., Koshimizu, U., et al. (1993) "Identification of muta-tions in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-indepen-dent activation of the c-kit product", I. Clin. Invest., 92, 1736–1744.
   Google Scholar
• Feger, F., Ribadeau Dumas, A., Leriche, L., Valent, P. and Arock, M. (2002) "Kit and c-kit mutations in mastocytosis: a short overview with special reference to novel molecular and diagnostic concepts", Int. Arch. Allergy Immunol., 127, 110–114.
   Google Scholar
• Nagata, H., Worobec, AS., Oh, C.K., Chowdhury, B.A., Tannenbaum, S., Suzuki, Y., et al. (1995) "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 hemato-logic disorder", Proc. Natl. Acad. Sci. (USA), 92, 10560 — 10564.
   Google Scholar
• Longley, B.J., Tyrrell, L., Lu, S.Z., Ma, Y.S., Langley, K., Ding, T.G., et al. (1996) "Somatic c-kit activating mutation in urticaria pigmentosa and aggressive mastocytosis: estab-lishment of clonality in a human mast cell neoplasm", Nat. Genet., 12, 312–314.
   Google Scholar
• Longley, B.J., Metcalfe, D.D., Tharp, M., Wang, X., Tyrrell, L., Lu, S.-Z., et al. (1999) "Activating and dominant inactivating c-kit catalytic domain mutations in distinct forms of human mastocytosis", Proc. Natl. Acad. Sci. (USA), 96, 1609–1614.
   Google Scholar
• Biltmer, C., Henz, B.M., Welker, P., Sepp, N.T. and Grabbe, J. (1998) "Identification of activating c-kit mutations in adult-, but not childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behaviour". I. Invest. Dermatol., 111, 1227 — 1231.
   Google Scholar
• Akin, C., Kitschenbaum, AS., Semere, T., Worobec, A.S., Scott, L.M. and Metcalfe, D.D. (2000) "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., 28, 140–147.
   Google Scholar
• Yavuz, A.S., Lipsky, P.E., Yavuz, S., Metcalfe, D.D. and Akin, C. (2002) "Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single cell analysis of mutations in the c-kit gene", Blood, 100, 661 — 665.
   Google Scholar
• Lennert, K. and Parwaresch, M.R. (1979) "Mast cells and mast cell neoplasia: a review", Histopathology, 3, 349–365.
   Google Scholar
• Parwaresch, M.R., Horny, H.-P. and Lennert, K. (1985) "Tissue mast cells in health and disease", Path. Res. Pract., 179, 439–461.
   Google Scholar
• Metcalfe, D.D. (1991) "Classification and diagnosis of mastocytosis: current status", I. Invest. Dermatot, 96, 2S — 4S.
   Google Scholar
• Valent, P. (1996) "Biology, classification and treatment of human mastocytosis", Wien. Kin. Wschr., 108, 385–397.
   Google Scholar
• Sotlar, K., Escribano, L., Landt, 0., Mohrle, S., Herrero, S., Torrelo, A., et al. (2003) "One-step detection of c-kit point mutations using peptide nucleic acid-mediated poly-merase chain reaction clamping and hybridization probes", Am. 3. Pathol., 162, 737–746.
   Google Scholar
• Valent, P., Escribano, L., Parwaresch, M.R., Schemmel, V., Schwartz, L.B., Sotlar, K., et al. (1999) "Recent advances in mastocytosis research", Int. Arch. Allergy Immunol., 120, 1 — 7.
   Google Scholar
• Tefferi, A. and Pardanani, A. (2004) "Clinical, genetic, and therapeutic insights into systemic mast cell disease", Curr. Opin. Hematot, 11, 58–64.
   Google Scholar
• Valent, P., Akin, C., Sperr, W.R., Horny, H.P., Arock, M., Lechner, K., et al. (2003) "Diagnosis and treatment of systemic mastocytosis: state of the art", Br. 3. Haematol., 122, 695–717.
   Google Scholar
• Fritsche-Polanz, R., Jordan, J.H., Feix, A., Sperr, W.R., Sunder-Plassmann, G., Valent, P., et al. (2001) "Mutation analysis of c-kit in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis", Br. 3. Haematol., 113, 357–364.
   Google Scholar
• Ferrao, P.T., Gonda, T.J. and Ashman, L.K. (2003) "Constitutively active mutant D816VKit induces megakayocyte and mast cell differentiation of early haemo-poietic cells from murine foetal liver", Leuk. Res., 27, 547 — 555.
   Google Scholar
• Pignon, J.M., Giraudier, S., Duquesnoy, P., Jouault, H., Imbert, M., Vainchenker, W., et al. (1997) "A new c-kit mutation in a case of aggressive mast cell disease", Br. 3. Haematol., 96, 374–376.
   Google Scholar
• Akin, C., Fumo, G., Yavuz, AS., Lipsky, P.E., Neckers, L. and Metcalfe, D.D. (2003) "A novel form of mastocytosis associated with a transmembrane c-Kit mutation and response to imatinib", Blood, 103, 3222–3225.
   Google Scholar
• Pullarkat, V.A., Pullarkat, S.T., Calverley, D.C. and Brynes, R.K. (2000) "Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His", Am. 3. Hematot, 65, 307–309.
   Google Scholar
• Pardanani, A., Ketterling, R.P., Brockman, SR., Flynn, H.C., Paternoster, S.F., Shearer, B.M., et al. (2003) "CHIC2 deletion, a surrogate for FIP1L1-PDGFRA fusion, occurs in systemic mastocytosis associated with eosinophilia and predicts response to imatinib mesylate therapy", Blood, 102, 3093–3096.
   Google Scholar
• Swolin, B., Rodjer, S. and Roupe, G. (1987) "Cytogenetic studies and in vitro colony growth in patients with mastocytosis", Blood, 70, 1928–1932.
   Google Scholar
• Swolin, B., Rodjer, S. and Roupe, G. (2000) "Cytogenetic studies in patients with mastocytosis", Cancer Genet. Cytogenet., 120, 131–135.
   Google Scholar
• Lishner, M., Confino-Cohen, R., Mekori, Y.A., Feigin, M., Manor, Y., Goldberg, A., et al. (1996) "Trisomies 9 and 8 detected by fluorescence in situ hybridization in patients with systemic mastocytosis", 3. Allergy Clin. Immunol., 98, 199— 204.
   Google Scholar
• Daley, T., Metcalfe, D.D. and Akin, C. (2001) "Associa-tion of the Q576R polymorphism in the interleukin-4 receptor alpha chain with indolent mastocytosis limited to the skin", Blood, 98, 880 — 882.
   Google Scholar
• Escribano, L., Orfao, A., Diaz-Agustin, B., Villarrubia, J., Cervero, C., Lopez, A., et al. (1998) "Indolent systemic mast cell disease in adults: immunophenotypic character-ization of bone marrow mast cells and its diagnostic implication", Blood, 91, 2731 — 2736.
   Google Scholar
• Schernthaner, G.H., Jordan, J.H., Ghannadan, M., Agis, H., Bevec, D., Nunez, R., et al. (2001) "Expression, epitope analysis, and functional role of the LFA-2 antigen detectable on neoplastic mast cells", Blood, 98, 3784–3792.
   Google Scholar
• Escribano, L., Diaz-Agustin, B., Bellas, C., Navalón, R., Nunez, R., Sperr, W.R., et al. (2001) "Utility of flow cytometric analysis of mast cells in the diagnosis and classification of adult mastocytosis", Leuk. Res., 25, 563 — 570.
   Google Scholar
• Valent, P. and Bettelheim, P. (1992) "Cell surface structures on human basophils and mast cells: biochemical and functional characterization", Adv. Immunol., 52, 333–423.
   Google Scholar
• Valent, P., Schernthaner, G.H., Sperr, W.R., Fritsch, G., Agis, H., Willheim, M., et al. (2001) "Variable expression of activation-linked surface antigens on human mast cells in health and disease", Immunol. Rev., 179, 74 — 81.
   Google Scholar
• Ghannadan, M., Hauswirth, A., Schernthaner, G.-H., M.R., Klepetko, W., Schatzl, G., et al. (2002) "Detection of novel CD antigens on the surface of human mast cells and basophils", Int. Arch. Allergy Immunol., 127, 299— 307.
   Google Scholar
• Wolff, K., Komar, M. and Petzelbauer, P. (2001) "Clinical and histopathological aspects of cutaneous mastocytosis", Leuk. Res., 25, 519–528.
   Google Scholar
• Horny, H.-P., Parwaresch, M.R. and Lennert, K. (1985) "Bone marrow findings in systemic mastocytosis", Human Pathology, 16, 808–814.
   Google Scholar
• Horny, H.-P. and Valent, P. (2001) "Diagnosis of mastocytosis: General histopathological aspects, morpholo-gical criteria, and immunohistochemical findings", Leuk. Res., 25, 543–551.
   Google Scholar
• Horny, H.-P., Kaiserling, E., Parwaresch, M.R. and Lennert, K. (1992) "Lymph node findings in generalized mastocytosis", Histopathology, 21, 439–446.
   Google Scholar
• Horny, H.-P., Ruck, M. and Kaiserling, E. (1992) "Spleen findings in generalized mastocytosis. A clinicopathologic study", Cancer, 70, 459–468.
   Google Scholar
• Horny, H.-P., Kaiserling, E., Campbell, M., Parwaresch, M.R. and Lennert, K. (1989) "Liver findings in generalized mastocytosis. A clinicopathologic study", Cancer, 63, 532 — 538.
   Google Scholar
• Metcalfe, D.D. (1991) "The liver, spleen, and lymph nodes in mastocytosis", I. Invest Dernzatot, 96, 45S —46S.
   Google Scholar
• Travis, W.D. and Li, C.Y. (1988) "Pathology of the lymph node and spleen in systemic mast cell disease", Mod. Pathot, 1, 4–14.
   Google Scholar
• Caplan, R.M. (1963) "The natural course of urticaria pigmentosa", Arch. Dermatot, 87, 146–157.
   Google Scholar
• Jordan, J.H., Fritsche-Polanz, R., Sperr, W.R, Mitterbauer, G., Födinger, M., Schernthaner, G.H., et al. (2001) "A case of smouldering mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val", Leuk. Res., 25, 627 — 634.
   Google Scholar
• Akin, C., Scott, L.M. and Metcalfe, D.D. (2001) "Slowly progressing mastocytosis with high mast cell burden and no evidence of a non-mast cell hematologic disorder: an example of a smoldering case?", Leuk. Res., 25, 635 — 638.
   Google Scholar
• Hauswirth, A., Sperr, W.R., Ghannadan, M., Schernthaner, G.-H., Jordan, J.H., Fritsche-Polanz, R. et al. (2002) "A case of smouldering mastocytosis with peripheral blood eosinophilia and lymphadenopathy", Leuk. Res., 26, 601 — 606.
   Google Scholar
• Sotlar, K., Marafioti, T., Griesser, H., Theil, J., Aepinus, C., et al. (2000) "Detection of c-kit mutation Asp-816-Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomono-cytic leukemia", Mol. Pathol., 53, 188–193.
   Google Scholar
• Valent, P., Akin, C., Sperr, W.R., Horny, H.-P. and Metcalfe, D.D. (2002) "Smouldering mastocytosis: a new type of systemic mastocytosis with slow progression", Int. Arch. Allergy Immunol., 127, 137–139.
   Google Scholar
• Horny, H.-P., Ruck, M., Wehrmann, M. and Kaiserling, E. (1990) "Blood findings in generalized mastocytosis: evidence of frequent simultaneous occurrence of myeloproliferative disorders", Br. 3. Haematol., 76, 186–193.
   Google Scholar
• Lawrence, J.B., Friedman, B.S., Travis, W.D., Chinchilli, V.M., Metcalfe, D.D. and Gralnick, H.R. (1991) "Hema-tologic manifestation of systemic mast cell disease: a prospective study of laboratory and morphologic features and their relation to prognosis", Am. 3. Med., 91, 612— 624.
   Google Scholar
• Sperr, W.R., Horny, H.-P., Lechner, K. and Valent, P. (2000) "Clinical and biologic diversity of leukemias occur-ing in patients with mastocytosis", Leukemia & Lymphoma, 37, 473–486.
   Google Scholar
• Travis, W.D., Li, C.Y., Yam, L.T., Bergstralh, E.J. and Swee, R.G. (1988) "Significance of systemic mast cell disease with associated hematologic disorders", Cancer, 62, 965–972.
   Google Scholar
• Valent, P., Horny, H.-P., Escribano, L., Longley, J.B., Li, C.Y., Schwartz, L.B., et al. (2001) "Diagnostic criteria and classification of mastocytosis: a consensus proposal. Con-ference Report of "Year 2000 Working Conference on Mastocytosis'", Leuk. Res., 25, 603— 625.
   Google Scholar
• Valent, P., Horny, H.-P., Li, C.Y., Longley, J.B., Metcalfe, D.D., Parwaresch, R.M., et al. (2001) Mastocytosis (Mast cell disease). World Health Organization (WHO) Classification of Tumours. Pathology & Genetics. Tumours of Haematopoietic and Lymphoid Tissues, edited by E.S. Jaffe, N.L. Harris, H. Stein and J.W. Vardiman. Vol 1. Pp 291–302.
   Google Scholar
• Horny, H.-P., Sillaber, C., Menke, D., Kaiserling, E., Wehrmann, M., Stehberger, B., et al. (1998) "Diagnostic utility of staining for tryptase in patients with mastocytosis", Am. 3. Surg. Pathol., 22, 1132–1140.
   Google Scholar
• Fukuda, T., Kamashima, T., Tsuura, Y., Suzuki, T., Kakihara, T., Naito, M., et al. (1995) "Expression of the c-kit gene product in normal and neoplastic mast cells but not in neoplastic basophil/mast cell precursors from chronic myelogenous leukaemia", I. Pathol., 177, 139–146.
   Google Scholar
• Li, W.V., Kapadia, S.B., Sonmez-Alpan, E. and Swerdlow, S.H. (1996) "Immunohistochemical characterization of mast cell disease in paraffin sections using tryptase, CD68, myeloperoxidase, lysozym, and CD20 antibodies", Mod. Pathol., 9, 982–988.
   Google Scholar
• Li, C.-Y. (2001) "Diagnosis of mastocytosis: Value of cytochemistry and immunohistochemistry", Leuk. Res., 25, 537 — 541.
   Google Scholar
• Prokocimer, M. and Polliack, A. (1981) "Increased bone marrow mast cells in preleukemic syndromes, acute leukemia, and lymphoproliferative disorders", Am. 3. Clin. Pathol., 75, 34–38.
   Google Scholar
• Valent, P., Sperr, W.R., Samorapoompichit, P., Geissler, K., Lechner, K., Horny, H.P., et al. (2001) "Myelomasto-cytic overlap syndromes: Biology, criteria, and relationship to mastocytosis", Leuk. Res., 25, 595–602.
   Google Scholar
• Jordan, J.H., Sperr, W.R., Lechner, K., Geissler, K., Schernthaner, G.-H., Fritsche-Polanz, R., et al. (2002) "Stem cell factor-induced bone marrow mast cell hyperpla-sia mimicking systemic mastocytosis (SM): histopathologic and morphologic evaluation with special reference to novel SM-criteria", Leuk. Lymphoma, 43, 575–582.
   Google Scholar
• Valent, P., Samorapoompichit, P., Sperr, W.R., Horny, H.-P. and Lechner, K. (2002) "Myelomastocytic leukemia: myeloid neoplasm characterized by partial differentiation of mast cell-lineage cells", Hematol. 1., 3, 90–94.
   Google Scholar
• Sperr, W.R., Escribano, L., Jordan, J.H., Schernthaner, G.H., Kundi, M., Horny, H.-P., et al. (2001) "Morphologic properties of neoplastic mast cells: delineation of stages of maturation and implication for cytological grading of mastocytosis", Leuk. Res., 25, 529–536.
   Google Scholar
• Jordan, J.H., Walchshofer, S., Jurecka, W., Mosberger, I., Sperr, W.R., Wolff, K., et al. (2001) "Immunohistochem-ical properties of bone marrow mast cells in systemic mastocytosis: evidence for expression of CD2, CD117/Kit, and bc1-xi,", Hum. Pathol., 32, 545–552.
   Google Scholar
• Sotlar, K., Horny, H.P., Simonitsch, I., Krokowski, H., Aichberger, K.J., Mayerhofer, M., Printz, D., et al. (2004) "CD25 indicates the neoplastic phenotype of mast cells: a novel immunohistochemical marker for the diagnosis of systemic mastocytosis (SM) on routinely processed bone marrow biopsy specimens", Am. 3. Surg. Pathol., 28, 1319 — 1325.
   Google Scholar
• Sperr, W.R., Stehberger, B., Wimazal, F., Baghestanian, M., Schwartz, L.B., Kundi, M., et al. (2002) "Serum tryptase measurements in patients with myelodysplastic syndromes", Leuk. Lymphoma, 43, 1097–1105.
   Google Scholar
• Sperr, W.R., Jordan, J.H., Baghestanian, M., Kiener, H.P., Samorapoompichit, P., Semper, H., et al. (2001) "Expression of mast cell tryptase by myeloblasts in a group of patients with acute myeloid leukemia", Blood, 98, 2200–2209.
   Google Scholar
• Sperr, W.R., Hauswirth, A.W. and Valent, P. (2002) "Tryptase a novel biochemical marker of acute myeloid leukemia", Leuk. Lymphoma, 43, 2257–2261.
   Google Scholar
• Schwartz, L.B. (2001) "Clinical utility of tryptase levels in systemic mastocytosis and associated hematologic disor-ders", Leuk. Res., 25, 553–562.
   Google Scholar
• Schwartz, L.B., Metcalfe, D.D., Miller, J.S., Earl, H. and Sullivan, T. (1987) "Tryptase levels as an indicator of mast-cell activation in systemic anaphylaxis and mastocytosis", N. Engl. 3. Med., 316, 1622–1626.
   Google Scholar
• Valent, P., Sperr, W.R., Schwartz, LB. and Horny, H.P. (2004) "Classification of systemic mast cell disorders: delineation from immunologic diseases and non-mast cell lineage hematopoietic neoplasms", I. Allergy Clin. Immunol., 114, 3–11.
   Google Scholar
• Jordan, J.H., Jager, E., Sperr, W.R., Schwarzinger, I., Födinger, M., Fritsche-Polanz, R., et al. (2003) "Numbers of colony-forming progenitors in patients with systemic mastocytosis: potential diagnostic implications and compar-ison with myeloproliferative disorders", Bur. 3. Clin. Invest., 33, 611 — 618.
   Google Scholar
• Topar, G., Staudacher, C., Geisen, F., Gabl, C., Fend, F., Herold, M., et al. (1998) "Urticaria pigmentosa: a clinical, hematopathologic, and serologic study of 30 adults", Am. 3. Clin. Pathol., 109, 279–285.
   Google Scholar
• Hartmann, K. and Henz, B.M. (2002) "Cutaneous mastocytosis — clinical heterogeneity", Int. Arch. Allergy Immunol., 127, 143–146.
   Google Scholar
• Willemze, R., Ruiter, D.J., Scheffer, E. and van Vloten, W.A. (1980) "Diffuse cutaneous mastocytosis with multiple cutaneous mastocytomas. Report of a case with clinical, histopathological and ultrastructural aspects", Br. 3. Der-matol., 102, 601 — 607.
   Google Scholar
• Valent, P., Akin, C., Sperr, W.R., Escribano, L., Arock, M., Horny, H.P., et al. (2003) "Aggressive systemic mastocy-tosis and related mast cell disorders: current treatment options and proposed response criteria", Leuk. Res., 27, 635— 641.
   Google Scholar
• Dalton, R, Chan, L., Batten, E. and Eridani, S. (1986) "Mast cell leukemia: evidence for bone marrow origin of the pathological clone", Br. 3. Haematol., 64, 397–406.
   Google Scholar
• Travis, W.D., Li, C.Y., Hogaland, H.C., Travis, L.B. and Banks, P.M. (1986) "Mast cell leukemia: Report of a case and review of the literature", Mayo Clin. Proc., 61, 957 — 966.
   Google Scholar
• Austen, K.F. (1992) "Systemic mastocytosis", N. Engl. 1. Med., 326, 639–640.
   Google Scholar
• Castells, M. and Austen, K.F. (2002) "Mastocytosis: mediator-related signs and symptoms", Int. Arch. Allergy Immunol., 127, 147–152.
   Google Scholar
• Escribano, L., Akin, C., Castells, M., Orfao, A. and Metcalfe, D.D. (2002) "Mastocytosis: current concepts in diagnosis and treatment", Ann. Hematol., 81, 677 — 690.
   Google Scholar
• Beltrani, G. and Carlesimo, O.A. (1966) "Telangiectasia macularis eruptiva perstans with mastocytosis", Minerva Dermatol., 41, 436–442.
   Google Scholar
• Cohn, MS. and Mahon, M.J. (1994) "Telangiectasia macularis eruptiva perstans", I. Am. Osteopath Assoc., 94, 246 — 248.
   Google Scholar
• Wolff, K. (2002) "Treatment of cutaneous mastocytosis", Int. Arch. Allergy Immunol., 127, 156–159.
   Google Scholar
• Verbov, J.L. and Borne, P.F. (1971) "Diffuse cutaneous mastocytosis", Br. 1. Dermatol., 84, 190–191.
   Google Scholar
• Requena, L. (1992) "Erythrodermic mastocytosis", Cutis, 49, 189–192.
   Google Scholar
• McDermott, W.V. and Topol, B.M. (1985) "Systemic mastocytosis with extensive large cutaneous mastocytomas: surgical management", 3. Surg. Oncol., 30, 221 —225.
   Google Scholar
• Worobec, A.S. (2000) "Treatment of systemic mast cell disorders", Hematol. Oncol. North Am., 14, 659— 687.
   Google Scholar
• Godt, 0., Proksch, E., Streit, V. and Christophers, E. (1997) "Short- and long-term effectiveness of oral and bath PUVA therapy in urticaria pigmentosa and systemic mastocytosis", Dermatology, 195, 35–39.
   Google Scholar
• Pardanani, A., Elliott, M., Reeder, T., Li, C.Y., Baxter, E.J., Cross, N.C., et al. (2003) "Imatinib for systemic mast-cell disease", Lancet, 362, 535–536.
   Google Scholar
• Tefferi, A. and Pardanani, A. (2004) "Imatinib therapy in clonal eosinophilic disorders, including systemic mastocy-tosis", Int. 3. Hematol., 79, 441–447.
   Google Scholar
• Sperr, W.R., Walchshofer, S., Horny, H.P., Födinger, M., Simonitsch, I., Fritsche-Polanz, R., et al. (1998) "Systemic mastocytosis associated with acute myeloid leukaemia: report of two cases and detection of the c-kit mutation Asp-816 to Val", Br. 3. Haematol., 103, 740–749.
   Google Scholar
• Kluin-Nelemans, H.C., Jansen, J.H., Breukelman, H., Wolthers, B.G., Kluin, P.M., et al. (1992) "Response to interferon alfa-2b in a patient with systemic mastocytosis", N. Engl. 3. Med., 326, 619–623.
   Google Scholar
• Delaporte, E., Pierard, E., Wolters, B.G., Desreumaux, P., Janin, A., Cortot, A., et al. (1995) "Interferon-alpha in combination with corticosteroids improves systemic mast cell disease", Br. 3. Dermatol., 132, 479–482.
   Google Scholar
• Worobec, AS., Kirshenbaum, AS., Schwartz, L.B. and Metcalfe, D.D. (1996) "Treatment of three patients with systemic mastocytosis with interferon alpha-2b", Leuk. Lymphoma, 22, 501–508.
   Google Scholar
• Weide, R., Ehlenz, K., Lorenz, W., Walthers, E., Klaus-mann, M. and Pfluger, K.H. (1996) "Successful treatment of osteoporosis in systemic mastocytosis with interferon alpha-2b", Ann. Hematol., 72, 41–43.
   Google Scholar
• Hauswirth, A.W., Simonitsch-Klupp, I., Uffmann, M., Koller, E., Sperr, W.R., Lechner, K., et al. (2004) "Response to therapy with interferon alpha-2b and pre-dnisolone in aggressive systemic mastocytosis: report of five cases and review of the literature", Leuk. Res., 28, 249–257.
   Google Scholar
• Tefferi, A., Li, C.Y., Butterfield, J.H. and Hoagland, H.C. (2001) "Treatment of systemic mast-cell disease with cladribine", N. Engl. 3. Med., 344, 307–309.
   Google Scholar
• Kluin-Nelemans, H.C., Oldhoff, J.M., Van Doormaal, J.J., Van 't Wout, J.W., Verhoef, G., Gerrits, W.B., et al. (2003) "Cladribine therapy for systemic mastocytosis", Blood, 102, 4270–4276.
   Google Scholar
• Pardanani, A., Hoffbrand, A.V., Butterfield, J.H. and Tefferi, A. (2004) "Treatment of systemic mast cell disease with 2-chlorodeoxyadenosine", Leuk. Res., 28, 127–131.
   Google Scholar
• Akin, C., Brockow, K., D'Ambrosio, C., Kirshenbaum, A., Ma, Y., Longley, J.B., et al. (2003) "Effects of tyrosine kinase inhibitor STI571 on human mast cells bearing wild-type or mutated forms of c-kit", Exp. Hematol., 31, 686 — 692.
   Google Scholar
• Ma, Y., Zeng, S., Metcalfe, D.D., Akin, C., Dimitrijevic, S., et al. (2002) "The c-kit mutation causing human mastocy-tosis is resistant to STI571 and other KIT kinase inhibitors; kinases with enzymatic site mutations show different inhibitor sensitivity profiles than wild-type kinases and those with regulatory type mutations", Blood, 99, 1741 — 1744.
   Google Scholar
• Frost, M.J., Ferrao, PT., Hughes, T.P. and Ashman, L.K. (2002) "Juxtamembrane mutant V560GKit is more sensi-tive to Imatinib (5TI571) compared with wild-type c-kit whereas the kinase domain mutant D816VKit is resistant", Mol. Cancer Ther., 1, 1115–1124.
   Google Scholar
• Horny, H.-P., Parwaresch, M.R., Kaiserling, E., Muller, K., Olbermann, M., Mainzer, K., et al. (1986) "Mast cell sarcoma of the larynx", I. Clin. Pathol., 39, 596–602.
   Google Scholar
• Kojima, M., Nakamura, S., Itoh, H., Ohno, Y., Masawa, N., Joshita, T., et al. (1999) "Mast cell sarcoma with tissue eosinophilia arising in the ascending colon", Modern Pathology, 12, 739–743.
   Google Scholar
• Guenther, P.P., Huebner, A., Sobottka, S.B., Neumeister, V., Weissbach, G., Todt, H., et al. (2001) "Temporary response of localized intracranial mast cell sarcoma to combination chemotherapy", 3. Pediatr. Hematol. Oncol., 23, 134–138.
   Google Scholar