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Verfasser Titel Jahr
zeige Details Longley, B. Jack, Tyrrell, Lynda, ... Somatic c-KIT activating mutation in urticaria pigmentosa and aggressive mastocytosis: establishment of clonality in a human mast cell neoplasm
in: Nature genetics . - New York, NY : Nature America, ISSN 1546-1718, Vol. 12, No. 3 (1996), p. 312-314
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1996
Mastocytosis Is characterized by accumulations of mast cells in various organs1. Most cases are indolent and confined to the skin, where discrete mast cell infiltrates are associated with increased epidermal melanin, a clinical picture known as urticaria pigmentosa (UP). Other forms of mastocytosis combine UP with aggressive involvement of other organs or with haematologic abnormalities1–4. It is not known whether all forms of mastocytosis are true neoplasms or whether some might represent reactive hyperplasias5–7. The c-KIT proto-oncogene encodes a type III receptor tyrosine kinase (KIT) that is critical to the development and survival of mast cells and melanocytes8–11. The ligand for KIT (KL) can stimulate mast cell development, proliferation, and mediator release9,12–17, as well as melanocyte proliferation and pigment production18–20. To determine the role of c-KIT in the pathogenesis of mastocytosis, we examined tissue and cells isolated from a patient with UP and aggressive systemic mastocytosis with massive splenic involvement. We found a mutation that results in constitutive activation and expression of c-KIT in mast cells of both skin and spleen. This is the first in situ demonstration of an activating c-KIT mutation in neoplastic cells. It also demonstrates the clonal and neoplastic nature of this form of mastocytosis.
beteiligte Personen: Longley, B. Jack , Tyrrell, Lynda , Lu, Shu-Zhuang , Ma, Yong-Sheng , Langley, Keith , Ding, Tie-gang , Duffy, Thomas , Jacobs, Peter , Tang, Laura H. , Modlin, Irvin
Format: Elektronisch
Erschienen: 1996.
Serie: Nature Archives 1869 - 2007 [Dig. Serial]
Schlagwörter:
URL: http://dx.doi.org/10.1038/ng0396-312

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zeige Details Reinacher-Schick, A., Petrasch, S., ... c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease
in: Annals of hematology , ISSN 1432-0584, Vol. 77 (3. 1998), p. 131-134
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zeige Details Haas, Norbert, Hamann, Kathrin, ... Phenotypic characterization of skin lesions in urticaria pigmentosa and mastocytomas
in: Archives of dermatological research , ISSN 1432-069X, Vol. 287 (3/4. 1995), p. 242-248
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zeige Details Werfel, T., Oppermann, Martin, ... C5a receptors are detectable on mast cells in normal human skin and in psoriatic plaques but not in weal and flare reactions or in urticaria pigmentosa by immunohistochemistry
in: Archives of dermatological research , ISSN 1432-069X, Vol. 289 (2. 1997), p. 83-86
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zeige Details Fonga-Djimi, Hortense S., Gottrand, Frederic, ... A fatal case of portal hypertension complicating systemic mastocytosis in an adolescent
in: European journal of pediatrics , ISSN 1432-1076, Vol. 154 (10. 1995), p. 819-821
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zeige Details Sauer, O., Nemetschek, H. Electron microscopic findings in a case of systemic mastocytosis
in: European journal of pediatrics , ISSN 1432-1076, Vol. 119 (1. 1975), p. 59-69
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