Mastocytosis is a disease of disordered mast cell proliferation. It affects all ages, both sexes, and all ethnic groups. In some cases, mastocytosis has an aggressive and ultimately fatal course. Thus, our efforts are directed to improving diagnosis and treatment; and to identifying the etiology of this disease. Most recently we have described pulmonary, abdominal, and ovarian manifestations of aggressive mastocytosis. A successful approach to treatment for aggressive disease remains elusive. Three patients treated for one year or more with interferon alpha-2b (IFNa-2b) continued to show a progressive course. However, in vitro studies demonstrate that IFNg-1b does suppress human mast cell growth, where IFNa-2b does not. Mast cell releasibility is not increased by IFNg-1b. Studies on c-kit and the relevance of activating mutations which we first identified in mastocytosis patients are continuing. Data now indicates all patients with mastocytosis and an associated hematologic disorder have the point mutation Asp816 Val in peripheral blood mononuclear cells. In contrast, adult patients with indolent mastocytosis may demonstrate this mutation only in skin lesions. Molecular studies are consistent with the conclusion that the Asp816 Val mutation is a somatic mutation and is not in germ line tissues. The search for other activating mutation continues.
| Akin, Cem; Valent, Peter; Metcalfe, Dean D (2010) Mast cell activation syndrome: Proposed diagnostic criteria. J Allergy Clin Immunol 126:1099-104.e4 |
| Kulka, Marianna; Metcalfe, Dean D (2010) Isolation of tissue mast cells. Curr Protoc Immunol Chapter 7:Unit 7.25 |
| Lahortiga, Idoya; Akin, Cem; Cools, Jan et al. (2008) Activity of imatinib in systemic mastocytosis with chronic basophilic leukemia and a PRKG2-PDGFRB fusion. Haematologica 93:49-56 |
| Simons, F E R; Frew, A J; Ansotegui, I J et al. (2008) Practical allergy (PRACTALL) report: risk assessment in anaphylaxis. Allergy 63:35-7 |
| Peavy, Richard D; Metcalfe, Dean D (2008) Understanding the mechanisms of anaphylaxis. Curr Opin Allergy Clin Immunol 8:310-5 |
| Maric, Irina; Robyn, Jamie; Metcalfe, Dean D et al. (2007) KIT D816V-associated systemic mastocytosis with eosinophilia and FIP1L1/PDGFRA-associated chronic eosinophilic leukemia are distinct entities. J Allergy Clin Immunol 120:680-7 |
| Valent, P; Akin, C; Metcalfe, D D (2007) FIP1L1/PDGFRA is a molecular marker of chronic eosinophilic leukaemia but not for systemic mastocytosis. Eur J Clin Invest 37:153-4 |
| Simons, F Estelle R; Frew, Anthony J; Ansotegui, Ignacio J et al. (2007) Risk assessment in anaphylaxis: current and future approaches. J Allergy Clin Immunol 120:S2-24 |
| Valent, P; Akin, C; Escribano, L et al. (2007) Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria. Eur J Clin Invest 37:435-53 |
| Jensen, Bettina M; Metcalfe, Dean D; Gilfillan, Alasdair M (2007) Targeting kit activation: a potential therapeutic approach in the treatment of allergic inflammation. Inflamm Allergy Drug Targets 6:57-62 |
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