{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T20:08:47Z","timestamp":1791576527512,"version":"4.3.4"},"reference-count":29,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2018,2,19]],"date-time":"2018-02-19T00:00:00Z","timestamp":1518998400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100005677","name":"Jos\u00e9 Carreras Leuk\u00e4mie-Stiftung","doi-asserted-by":"publisher","award":["DJCLS R 13\/05"],"award-info":[{"award-number":["DJCLS R 13\/05"]}],"id":[{"id":"10.13039\/501100005677","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes Chromosomes &amp; Cancer"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The clinical behavior of systemic mastocytosis (SM) is strongly associated with activating mutations in <jats:italic>KIT<\/jats:italic> (D816V in &gt;80% of cases), with the severity of the phenotype influenced by additional somatic mutations, for example, in <jats:italic>SRSF2<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>, or <jats:italic>RUNX1<\/jats:italic>. Complex molecular profiles are frequently associated with the presence of an associated hematologic neoplasm (AHN) and an unfavorable clinical outcome. However, little is known about the incidence and prognostic impact of cytogenetic aberrations. We analyzed cytogenetic and molecular characteristics of 109 patients (<jats:italic>KIT<\/jats:italic> D816V+, <jats:italic>n<\/jats:italic>\u2009=\u2009102, 94%) with indolent (ISM, <jats:italic>n<\/jats:italic>\u2009=\u200926) and advanced SM (<jats:italic>n<\/jats:italic>\u2009=\u200983) with (<jats:italic>n<\/jats:italic>\u2009=\u200973, 88%) or without AHN. An aberrant karyotype was identified in SM\u2010AHN (16\/73, 22%) patients only. In patients with an aberrant karyotype, additional somatic mutations were identified in 12\/16 (75%) patients. Seven of 10 (70%) patients with a poor\u2010risk karyotype, for example, monosomy 7 or complex karyotype, and 1\/6 (17%) patients with a good\u2010risk karyotype progressed to secondary acute myeloid leukemia (<jats:italic>n<\/jats:italic>\u2009=\u20097) or mast cell leukemia (<jats:italic>n<\/jats:italic>\u2009=\u20091) within a median of 40 months (range 2\u2010190, <jats:italic>P<\/jats:italic>\u2009=\u2009.04). In advanced SM, the median overall survival (OS) of poor\u2010risk karyotype patients was significantly shorter than in good\u2010risk\/normal karyotype patients (4 vs 39 months; hazard ratio 11.7, 95% CI 5.0\u201027.3; <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.0001). Additionally, the shortened OS in patients with poor\u2010risk karyotype was independent from the mutation status. In summary, a poor\u2010risk karyotype is an independent prognostic variable in advanced SM. Cytogenetic and molecular analyses should be routinely performed in all patients with advanced SM\u2009\u00b1\u2009AHN because these investigations greatly support prognostication and treatment decisions.<\/jats:p>","DOI":"10.1002\/gcc.22526","type":"journal-article","created":{"date-parts":[[2018,1,17]],"date-time":"2018-01-17T09:29:12Z","timestamp":1516181352000},"page":"252-259","source":"Crossref","is-referenced-by-count":59,"title":["Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis"],"prefix":"10.1002","volume":"57","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9177-9133","authenticated-orcid":false,"given":"Nicole","family":"Naumann","sequence":"first","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Jawhar","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Schwaab","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sebastian","family":"Kluger","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"L\u00fcbke","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgia","family":"Metzgeroth","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Henning D.","family":"Popp","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nada","family":"Khaled","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans\u2010Peter","family":"Horny","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Ludwig\u2010Maximilians\u2010University Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl","family":"Sotlar","sequence":"additional","affiliation":[{"name":"University Hospital Salzburg, Paracelsus Medical University Salzburg Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Valent","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine I, Division of Hematology and Ludwig Boltzmann Cluster Oncology Medical University of Vienna Vienna Austria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Haferlach","sequence":"additional","affiliation":[{"name":"MLL Munich Leukemia Laboratory Munich Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0863-8645","authenticated-orcid":false,"given":"Gudrun","family":"G\u00f6hring","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Hannover Medical School Hannover 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Kingdom"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas","family":"Reiter","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alice","family":"Fabarius","sequence":"additional","affiliation":[{"name":"Department of Hematology and Oncology University Hospital Mannheim, Heidelberg University Heidelberg Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,2,19]]},"reference":[{"key":"e_1_2_7_2_1","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Horny 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