{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T06:15:47Z","timestamp":1790748947396,"version":"4.1.0"},"reference-count":17,"publisher":"American Society of Hematology","issue":"2","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2002,7,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mast cells are derived from multipotential hematopoietic progenitors and are clonally increased in systemic mastocytosis, a disease associated with point mutations of codon 816 (most commonly Asp816Val) of c-kit. To study the lineage relationship and the extent of expansion of cells derived from the mutated clone, we examined the occurrence of the Asp816Val c-kit mutation in genomic DNA of individual sorted peripheral blood T cells, B cells, and monocytes in patients with indolent systemic mastocytosis. The mutation was detected in varying frequencies in the genomic DNA of individual B cells and monocytes and bone marrow mast cells in patients with extensive disease. In B cells, the immunoglobulin repertoire was polyclonal, indicating that the mutation occurred before VH\/(D)\/JH recombination. These results show that mastocytosis is a disorder of a pluripotential hematopoietic progenitor cell that gives rise to B cells and monocytes in addition to mast cells and that the affected clone shows variable expansion in these lineages in the peripheral blood of patients with systemic mastocytosis.<\/jats:p>","DOI":"10.1182\/blood-2002-01-0203","type":"journal-article","created":{"date-parts":[[2002,10,11]],"date-time":"2002-10-11T18:33:52Z","timestamp":1034361232000},"page":"661-665","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":142,"title":["Evidence for the involvement of a hematopoietic progenitor cell in systemic mastocytosis from single-cell analysis of mutations in the c-kit gene"],"prefix":"10.1182","volume":"100","author":[{"given":"A. Selim","family":"Yavuz","sequence":"first","affiliation":[{"name":"From the Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter E.","family":"Lipsky","sequence":"additional","affiliation":[{"name":"From the Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sule","family":"Yavuz","sequence":"additional","affiliation":[{"name":"From the Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dean D.","family":"Metcalfe","sequence":"additional","affiliation":[{"name":"From the Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cem","family":"Akin","sequence":"additional","affiliation":[{"name":"From the Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), and Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health, Bethesda, MD."}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","reference":[{"key":"2020021219021807700_B1","doi-asserted-by":"crossref","first-page":"10560","DOI":"10.1073\/pnas.92.23.10560","article-title":"Identification of a point mutation in the catalytic domain of the protooncogene c-kit in peripheral blood mononuclear cells of patients who have mastocytosis with an associated hematologic disorder.","volume":"92","author":"Nagata","year":"1995","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2020021219021807700_B2","doi-asserted-by":"crossref","first-page":"1609","DOI":"10.1073\/pnas.96.4.1609","article-title":"Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis.","volume":"96","author":"Longley","year":"1999","journal-title":"Proc Natl Acad Sci U S A."},{"key":"2020021219021807700_B3","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1172\/JCI116761","article-title":"Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product.","volume":"92","author":"Furitsu","year":"1993","journal-title":"J Clin Invest."},{"key":"2020021219021807700_B4","doi-asserted-by":"crossref","first-page":"1227","DOI":"10.1046\/j.1523-1747.1998.00414.x","article-title":"Identification of activating c-kit mutations in adult-, but not in childhood-onset indolent mastocytosis: a possible explanation for divergent clinical behavior.","volume":"111","author":"Buttner","year":"1998","journal-title":"J Invest Dermatol."},{"key":"2020021219021807700_B5","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1016\/S0301-472X(99)00145-9","article-title":"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.","volume":"28","author":"Akin","year":"2000","journal-title":"Exp Hematol."},{"key":"2020021219021807700_B6","doi-asserted-by":"crossref","first-page":"2702","DOI":"10.1172\/JCI118337","article-title":"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.","volume":"96","author":"Schwartz","year":"1995","journal-title":"J Clin Invest."},{"key":"2020021219021807700_B7","doi-asserted-by":"crossref","first-page":"1267","DOI":"10.1182\/blood.V96.4.1267","article-title":"Soluble stem cell factor receptor (CD117) and IL-2 receptor alpha chain (CD25) levels in the plasma of patients with mastocytosis: relationships to disease severity and bone marrow pathology.","volume":"96","author":"Akin","year":"2000","journal-title":"Blood."},{"key":"2020021219021807700_B8","first-page":"291","article-title":"Mastocytosis.","volume-title":"World Health Organization Classification of Tumours. 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