{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,19]],"date-time":"2026-10-19T16:00:53Z","timestamp":1792425653829,"version":"4.5.0"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2009,12,22]],"date-time":"2009-12-22T00:00:00Z","timestamp":1261440000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["pathsocjournals.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Pathology"],"published-print":{"date-parts":[[2010,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In a substantial number of patients with systemic mastocytosis (SM), an associated clonal haematological non\u2010mast cell lineage disease (AHNMD) is detectable. Although most of these patients display <jats:italic>KIT<\/jats:italic> mutations, especially <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup>, little is known about their exact frequency and their distribution in AHNMD subtypes. We examined 48 patients with SM\u2013AHNMD for the presence of mutant <jats:italic>KIT<\/jats:italic> in the SM and AHNMD components of the disease. Mast cells and AHNMD cells were obtained from immunostained bone marrow sections by laser microdissection and examined by melting point analysis of nested\u2010PCR products. <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup> was found in AHNMD cells in the vast majority of patients with SM\u2013chronic myelomonocytic leukaemia (CMML, 89%). Unexpectedly, <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup> was far less frequently detectable in AHNMD cells in patients with SM\u2013myeloproliferative neoplasm (MPN, 20%) and SM\u2013acute myeloid leukaemia (AML, 30%). None of the patients with lymphoproliferative AHNMDs displayed <jats:italic>KIT<\/jats:italic> codon 816 mutations in AHNMD cells (0\/8). In FIP1L1\/PDGFRA\u2010positive chronic eosinophilic leukaemia (CEL), neither the SM nor the CEL component of the disease exhibited the <jats:italic>KIT<\/jats:italic> mutation. Our findings demonstrate that <jats:italic>KIT<\/jats:italic> codon 816 mutations are variably present in AHNMD cells in patients with SM\u2013AHNMD, depending on the subtype of AHNMD. The high frequency of <jats:italic>KIT<\/jats:italic><jats:sup>D816V<\/jats:sup> in neoplastic mast cells and leukaemic myelomonocytic cells in SM\u2013CMML may point to a common precursor in these patients, and may have implications for the biology of the disease and the development of <jats:italic>KIT<\/jats:italic>\u2010targeting therapies. Copyright \u00a9 2009 Pathological Society of Great Britain and Ireland. Published by John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/path.2677","type":"journal-article","created":{"date-parts":[[2009,12,22]],"date-time":"2009-12-22T06:53:36Z","timestamp":1261464816000},"page":"586-595","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":152,"title":["Variable presence of <i>KIT<\/i><sup>D816V<\/sup> in clonal haematological non\u2010mast cell lineage diseases associated with systemic mastocytosis 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