{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T05:21:46Z","timestamp":1791264106801,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,1,12]],"date-time":"2002-01-12T00:00:00Z","timestamp":1010793600000},"content-version":"vor","delay-in-days":256,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2001,5]]},"abstract":"<jats:p>The proto\u2010oncogene <jats:italic>C\u2010KIT<\/jats:italic> encodes a tyrosine kinase receptor that is expressed on mast cells and haematopoietic stem cells and can show somatic mutations in patients with mastocytosis. Only scattered information is available about mutations in <jats:italic>C\u2010KIT<\/jats:italic> in patients with other myeloid neoplasms. Moreover, the prevalence of mutations in <jats:italic>C\u2010KIT<\/jats:italic> in bone marrow specimens of individuals with systemic mastocytosis is largely unknown. Using sequence analysis, we have screened cDNAs of the <jats:italic>C\u2010KIT<\/jats:italic> domain encompassing codon 510\u2013626 and codon 763\u2013858 in bone marrow (BM) mononuclear cells (MNCs) of patients with myelodysplastic syndromes (<jats:italic>n<\/jats:italic>\u2003=\u200328) and patients with systemic mastocytosis (<jats:italic>n<\/jats:italic>\u2003=\u200312) for the presence of mutations. Furthermore, restriction fragment length polymorphism analysis was applied for identification of the <jats:italic>C\u2010KIT<\/jats:italic> 2468A\u2192T and the <jats:italic>C\u2010KIT<\/jats:italic> 1700T\u2192G mutation, as well as the <jats:italic>C\u2010KIT<\/jats:italic> 1642A\u2192C polymorphism. All 11 patients with systemic indolent mastocytosis tested positive for <jats:italic>C\u2010KIT<\/jats:italic> 2468A\u2192T. In contrast, no mutation was identified in the case of aggressive mastocytosis. Among patients with myelodysplastic syndromes, no patient showed a somatic mutation in <jats:italic>C\u2010KIT<\/jats:italic>. The allele frequency for <jats:italic>C\u2010KIT<\/jats:italic> 1642A\u2192C among the entire patient population was 0\u00b7038 and was 0\u00b7125 among age\u2010 and sex\u2010matched healthy controls. Our data demonstrate that myelodysplastic syndromes without histological or cytological evidence of mastocytosis do not exhibit somatic mutations in exons 10, 11, 12, 16, 17 and 18 of <jats:italic>C\u2010KIT<\/jats:italic>. In contrast, BM MNCs of patients with systemic indolent mastocytosis were all positive for <jats:italic>C\u2010KIT<\/jats:italic> 2468A\u2192T and negative for additional mutations in these exons. The <jats:italic>C\u2010KIT<\/jats:italic> 1642A\u2192C polymorphism is not associated with myelodysplastic syndrome or systemic mastocytosis.<\/jats:p>","DOI":"10.1046\/j.1365-2141.2001.02783.x","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:27:39Z","timestamp":1027679259000},"page":"357-364","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":120,"title":["Mutation analysis of <i>C\u2010KIT<\/i> in patients with myelodysplastic syndromes without mastocytosis and cases of systemic mastocytosis"],"prefix":"10.1111","volume":"113","author":[{"given":"Robert","family":"Fritsche\u2010Polanz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John\u2010Hendrik","family":"Jordan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Feix","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wolfgang 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