Review article
Mastocytosis – A Disease of the Hematopoietic Stem Cell
Dtsch Arztebl Int 2008; 105(40): 686-92. DOI: 10.3238/arztebl.2008.0686
; ; ;
1. | Ehrlich P: Beiträge zur Kenntniss der granulierten Bindegewebszellen und der eosinophilen Leukocythen. Arch Anat Physiol 1979; 3: 166–9. |
2. | Galli SJ, Tsai M: Mast cells: versatile regulators of inflammation, tissue remodeling, host defense and homeostasis. J Dermatol Sci 2008; 49: 7–19. MEDLINE |
3. | Hartmann K, Henz BM: Mastocytosis: recent advances in defining the disease. Br J Dermatol 2001; 144: 682–95. MEDLINE |
4. | Valent P, Horny H-P, Li CY et al.: Mastocytosis (mast cell disease). In: Jaffe ES, Harris NL, Stein H, Vardiman JW (Hrsg.): World Health Organization (WHO) classification of tumors. Pathology and genetics of tumors of haematopoietic and lymphoid tissues. Lyon: IARC Press 2001; 291–302. |
5. | Valent P, Horny H-P, Escribano L, Longley JB, Li CY, Schwartz LB et al.: Diagnostic criteria and classification of mastocytosis: a consensus proposal. Conference report of „Year 2000 Working Conference on Mastocytosis“. Leuk Res 2001; 25: 603–25. MEDLINE |
6. | Sonneck K, Florian S, Müllauer L et al.: Diagnostic and subdiagnostic accumulation of mast cells in the bone marrow of patients with anaphylaxis: monoclonal mast cell activation syndrome. Int Arch Allergy Immunol 2006; 142: 158–64. MEDLINE |
7. | Horny H-P, Sotlar K, Valent P: Mastocytosis: state of the art. Pathobiology 2007; 74: 121–32. MEDLINE |
8. | Sagher F, Even-Paz Z: Incidence of mastocytosis. In: Sagher F, Even-Paz Z (Hrsg.): Mastocytosis and the mast cell. Basel, New York: Karger 1967; 14–7. |
9. | Akin C: Clonality and molecular pathogenesis of mastocytosis. Acta Haematol 2005; 114: 61–9. MEDLINE |
10. | Orfao A, Garcia-Montero AC, Sanchez L, Escribano L; REMA: Recent advances in the understanding of mastocytosis: the role of KIT mutations. Br J Haematol 2007; 138: 12–30. MEDLINE |
11. | Sotlar K, Escribano L, Landt O et al.: One-step detection of c-kit point mutations using peptide nucleic acid-mediated polymerase chain reaction clamping and hybridization probes. Am J Pathol 2003; 162: 737–46. MEDLINE |
12. | Cools J, DeAngelo DJ, Gotlib J et al.: A tyrosine kinase created by fusion of the PDGFRA and FIP1L1 genes as a therapeutic target of imatinib in idiopathic hypereosinophilic syndrome. N Engl J Med 2003; 348: 1201–14. MEDLINE |
13. | Maric I, Robyn J, Metcalfe DD et al.: KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. J Allergy Clin Immunol 2007; 120: 680–7. MEDLINE |
14. | Sotlar K, Bache A, Stellmacher F, Bültmann B, Valent P, Horny H-P: Systemic mastocytosis associated with chronic idiopathic myelofibrosis: a distinct subtype of systemic mastocytosis associated clonal hematological nonmast cell lineage disorder carrying the activating point mutations KITD816V and JAK2V617F. J Mol Diagn 2008; 10: 58–66. MEDLINE |
15. | Ma Y, Zeng S, Metcalfe DD et al.: The c-KIT mutation causing human mastocytosis 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 2002; 99: 1741–4. MEDLINE |
16. | Valent P, Akin C, Escribano L et al.: Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 2007; 37: 435–53. MEDLINE |
17. | Brockow K, Jofer C, Behrendt H, Ring J: Anaphylaxis in patients with mastocytosis: a study on history, clinical features and risk factors in 120 patients. Allergy 2008; 63: 226–32. MEDLINE |
18. | Lennert K, Parwaresch MR: Mast cells and mast cell neoplasia: a review. Histopathology 1979; 3: 349–65. MEDLINE |
19. | Metcalfe DD: The treatment of mastocytosis: an overview. J Invest Dermatol 1991; 96: 55–6. MEDLINE |
20. | Friedman BS, Santiago ML, Berkebile C, Metcalfe DD: Comparison of azelastine and chlorpheniramine in the treatment of mastocytosis. J Allergy Clin Immunol 1993; 92: 520–6. MEDLINE |
21. | Wedi B: Urticaria. J Dtsch Dermatol Ges 2008; 6: 306–17. MEDLINE |
22. | Godt O, Proksch E, Streit V, Christophers E: Short- and long-term effectiveness of oral and bath PUVA therapy in urticaria pigmentosa and systemic mastocytosis. Dermatology 1997; 195: 35–9. MEDLINE |
23. | Tefferi A, Verstovsek S, Pardanani A: How we diagnose and treat WHO-defined systemic mastocytosis in adults. Haematologica 2008; 93: 6–9. MEDLINE |
24. | Hauswirth AW, Simonitsch-Klupp I, Uffmann M et al.: Response to therapy with interferon-a-2b and prednisolone in aggressive mastocytosis: report of five cases and review of the literature. Leuk Res 2004; 28: 249–57. MEDLINE |
e1. | Garcia-Montero AC, Jara-Acevedo M, Teodosio C et al.: KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients. Blood 2006; 108: 2366–72. MEDLINE |
e2. | Sotlar K, Marafioti T, Griesser H et al.: Detection of c-kit mutation Asp-816-Val in microdissected bone marrow infiltrates in a case of systemic mastocytosis associated with chronic myelomonocytic leukemia. Mol Pathol 2000; 53: 188–93. MEDLINE |
e3. | Ruëff F, Placzek M, Przybilla B: Mastocytosis and hymenoptera venom allergy. Curr Opin Allergy Clin Immunol 2006; 6: 284–8. MEDLINE |
e4. | Akin C: Molecular diagnosis of mast cell disorders. A paper from the 2005 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn 2006; 8: 412–9. MEDLINE |
e5. | Escribano L, Orfao A, Diaz-Agustin B et al.: Indolent systemic mast cell disease in adults: immunophenotypic characterization of bone marrow mast cells and its diagnostic implications. Blood 1998; 91: 2731–6. MEDLINE |
e6. | Kettelhut BV, Berkebile C, Bradley D, Metcalfe DD: A double-blind, placebo-controlled, crossover trial of ketotifen versus hydroxyzine in the treatment of pediatric mastocytosis. J Allergy Clin Immunol 1989; 83: 866–70. MEDLINE |
e7. | Kolde G, Frosch PJ, Czarnetzki BM: Response of cutaneous mast cells to PUVA in patients with urticaria pigmentosa: histomorphometric, ultrastructural, and biochemical investigations. J Invest Dermatol 1984; 83: 175–8. MEDLINE |