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dc.contributor.authorGupta, Ren_US
dc.contributor.authorBain, BJen_US
dc.contributor.authorKnight, CLen_US
dc.identifier.citationACTA HAEMATOLOGICA, 2002, 107 pp. 123 - 128en_US
dc.description.abstractClonal cytogenetic abnormalities similar to those observed in other haematological neoplasms are demonstrable in a proportion of patients with systemic mastocytosis and in a smaller proportion of adults with urticaria pigmentosa without apparent systemic disease. These clonal abnormalities are not likely to represent the primary event in mast cell neoplasms. Although no recurrent cytogenetic abnormalities specific for mastocytosis have yet been recognized, the majority of cases display one of several mutations in c-KIT, the gene encoding the receptor for stem cell factor. That most commonly observed is the Asp816Val mutation, which permits proliferation independent of growth factors. c-KIT mutations may play a significant role in the biology of mast cell malignancies, although other mutations may be needed for a malignant phenotype. Copyright (C) 2002 S. Karger AG, Basel.en_US
dc.format.extent123 - 128en_US
dc.titleCytogenetic and molecular genetic abnormalities in systemic mastocytosisen_US
dc.typeJournal Article
rioxxterms.typeJournal Article/Reviewen_US
dc.relation.isPartOfACTA HAEMATOLOGICAen_US
pubs.notesaffiliation: Gupta, R (Reprint Author), Inst Canc Res, Sect Gene Funct & Regulat, Chester Beatty Labs, 237 Fulham Rd, London SW3 6JB, England. Inst Canc Res, Sect Gene Funct & Regulat, Chester Beatty Labs, London SW3 6JB, England. Univ London Imperial Coll Sci & Technol, Fac Med, St Marys Hosp, Dept Haematol, London, England. keywords: cytogenetics; molecular genetics; mastocytosis; urticaria pigmentosa; c-KIT keywords-plus: C-KIT MUTATION; MAST-CELL DISEASE; ACUTE MYELOID-LEUKEMIA; RECEPTOR TYROSINE KINASE; BLOOD MONONUCLEAR-CELLS; IN-SITU HYBRIDIZATION; BONE-MARROW; CATALYTIC DOMAIN; PHILADELPHIA-CHROMOSOME; ACTIVATING MUTATION research-areas: Hematology web-of-science-categories: Hematology number-of-cited-references: 41 times-cited: 8 usage-count-last-180-days: 0 usage-count-since-2013: 0 journal-iso: Acta Haematol. doc-delivery-number: 541BN unique-id: ISI:000174965500009 da: 2018-09-19en_US
pubs.notesNot knownen_US
pubs.embargo.termsNot knownen_US
dc.contributor.icrauthorGupta, Rajeeven_US

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