{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T06:08:57Z","timestamp":1790662137948,"version":"4.1.0"},"reference-count":23,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,6,20]],"date-time":"2016-06-20T00:00:00Z","timestamp":1466380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Mayo Clinic (Rochester) sequencing core facility"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:p>In routine practice, the World Health Organization classification of systemic mastocytosis (SM) is also the <jats:italic>de facto<\/jats:italic> prognostic system; a core value is distinguishing indolent (ISM) from advanced SM (includes aggressive SM [ASM], SM with associated hematological neoplasm [SM\u2010AHN] and mast cell leukemia [MCL]). We sequenced 27 genes in 150 SM patients to identify mutations that could be integrated into a clinical\u2010molecular prognostic model for survival. Forty four patients (29%) had ISM, 25 (17%) ASM, 80 (53%) SM\u2010AHN and 1 (0.7%) MCL; overall <jats:italic>KIT<\/jats:italic>D816V prevalence was 75%. In 87 patients, 148 non\u2010<jats:italic>KIT<\/jats:italic> mutations were detected; the most frequently mutated genes were <jats:italic>TET2<\/jats:italic> (29%), <jats:italic>ASXL1<\/jats:italic> (17%), and <jats:italic>CBL<\/jats:italic> (11%), with significantly higher mutation frequency in SM\u2010AHN\u2009&gt;\u2009ASM\u2009&gt;\u2009ISM (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). In advanced SM, <jats:italic>ASXL1<\/jats:italic> and <jats:italic>RUNX1<\/jats:italic> mutations were associated with inferior survival. In multivariate analysis, age\u2009&gt;\u200960 years (HR\u2009=\u20092.4), hemoglobin\u2009&lt;\u200910 g\/dL or transfusion\u2010dependence (HR\u2009=\u20091.7), platelet count\u2009&lt;\u2009150 \u00d7 10<jats:sup>9<\/jats:sup>\/L (HR\u2009=\u20093.2), serum albumin\u2009&lt;\u20093.5 g\/dL (HR\u2009=\u20092.6), and <jats:italic>ASXL1<\/jats:italic> mutation (HR\u2009=\u20092.3) were associated with inferior survival. A mutation\u2010augmented prognostic scoring system (MAPSS) based on these parameters stratified advanced SM patients into high\u2010, intermediate\u2010, and low\u2010risk groups with median survival of 5, 21 and 86 months, respectively (<jats:italic>P<\/jats:italic>\u2009&lt;\u20090.0001). These data should optimize risk\u2010stratification and treatment selection for advanced SM patients. Am. J. Hematol. 91:888\u2013893, 2016. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajh.24426","type":"journal-article","created":{"date-parts":[[2016,5,24]],"date-time":"2016-05-24T10:43:11Z","timestamp":1464086591000},"page":"888-893","source":"Crossref","is-referenced-by-count":75,"title":["Next\u2010generation sequencing in systemic mastocytosis: Derivation of a mutation\u2010augmented clinical prognostic model for survival"],"prefix":"10.1002","volume":"91","author":[{"given":"Animesh","family":"Pardanani","sequence":"first","affiliation":[{"name":"Department of Medicine, Division of Hematology Mayo Clinic Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terra","family":"Lasho","sequence":"additional","affiliation":[{"name":"Department of Medicine, Division of Hematology Mayo Clinic Rochester 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