{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T15:20:12Z","timestamp":1783524012131,"version":"3.55.0"},"reference-count":13,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T00:00:00Z","timestamp":1537920000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2018,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The World Health Organization (WHO) system lists five morphological categories of systemic mastocytosis (SM): indolent (ISM), smoldering, SM with an associated hematological neoplasm (SM\u2010AHN), aggressive (ASM) and mast cell leukemia (MCL). Recent studies have highlighted the prognostic importance of mutations in SM, including <jats:italic>ASXL1<\/jats:italic>, <jats:italic>RUNX1<\/jats:italic>, and <jats:italic>SRSF2.<\/jats:italic> In contrast, information on incidence of cytogenetic abnormalities in SM and their prognostic relevance, especially in the context of mutations, is limited. In the current study, we retrospectively reviewed the cytogenetic findings in 348 consecutive cases of SM (median age 59\u2009years; 53% males); 41% constituted ISM, 45% SM\u2010AHN, 14% ASM and two cases of MCL. Karyotype was abnormal in 53 (15%) cases with incidences of 6% for ISM, 26% for SM\u2010AHN and 8% for ASM (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001); among SM\u2010AHN cases, abnormal karyotype incidences were 0% for SM\u2010AHN\u2010lymphoid and 28% for SM\u2010AHN\u2010myeloid (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001). Clinical correlative studies disclosed significant associations between abnormal karyotype and male sex (<jats:italic>P<\/jats:italic>\u2009=\u2009.002), age\u2009&gt;\u200960\u2009years (<jats:italic>P<\/jats:italic>\u2009=\u2009.04), thrombocytopenia (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001) and anemia (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001), but not with the presence of adverse mutations (<jats:italic>P<\/jats:italic>\u2009=\u2009.19). In univariate analysis, abnormal karyotype was associated with inferior survival (HR 3.0, 95% CI 2.0\u20104.3), specifically confirmed for ASM (HR 4.9, 95% CI 1.1\u201016.1) and SM\u2010AHN (HR 1.8, 95% CI 1.2\u20102.7). Sample size adequacy allowed additional multivariable analysis in SM\u2010AHN\u2010myeloid, which disclosed independent prognostic contribution from adverse mutations (<jats:italic>P<\/jats:italic>\u2009=\u2009.003), anemia (<jats:italic>P<\/jats:italic>\u2009=\u2009.003) and thrombocytopenia (<jats:italic>P<\/jats:italic>\u2009=\u2009.001), but not from abnormal karyotype (<jats:italic>P<\/jats:italic>\u2009=\u2009.31). Our observations suggest that mutations are prognostically more relevant than karyotype in SM.<\/jats:p>","DOI":"10.1002\/ajh.25265","type":"journal-article","created":{"date-parts":[[2018,8,30]],"date-time":"2018-08-30T02:14:11Z","timestamp":1535595251000},"page":"1461-1466","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Cytogenetic abnormalities in systemic mastocytosis: WHO subcategory\u2010specific incidence and prognostic impact among 348 informative cases"],"prefix":"10.1002","volume":"93","author":[{"given":"Sahrish","family":"Shah","sequence":"first","affiliation":[{"name":"Divisions of Hematology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Animesh","family":"Pardanani","sequence":"additional","affiliation":[{"name":"Divisions of Hematology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoseph C.","family":"Elala","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine John C. Edwards School of Medicine, Marshall University  West Virginia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terra L.","family":"Lasho","sequence":"additional","affiliation":[{"name":"Divisions of Hematology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6998-662X","authenticated-orcid":false,"given":"Mrinal M.","family":"Patnaik","sequence":"additional","affiliation":[{"name":"Divisions of Hematology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaaren K.","family":"Reichard","sequence":"additional","affiliation":[{"name":"Divisions of Hematopathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Curtis A.","family":"Hanson","sequence":"additional","affiliation":[{"name":"Divisions of Hematopathology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rhett P.","family":"Ketterling","sequence":"additional","affiliation":[{"name":"Divisions of Laboratory Genetics and Genomics Departments of Internal Medicine and Laboratory Medicine Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4605-3821","authenticated-orcid":false,"given":"Ayalew","family":"Tefferi","sequence":"additional","affiliation":[{"name":"Divisions of Hematology Mayo Clinic  Rochester Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,9,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-03-643544"},{"issue":"6","key":"e_1_2_5_3_1","doi-asserted-by":"crossref","first-page":"1928","DOI":"10.1182\/blood.V70.6.1928.1928","article-title":"Cytogenetic studies and in vitro colony growth in patients with mastocytosis","volume":"70","author":"Swolin B","year":"1987","journal-title":"Blood"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22526"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24426"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.13865"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/leu.2015.284"},{"key":"e_1_2_5_8_1","volume-title":"ISCN 2009: An International System for Human Cytogenetic Nomenclature (2009): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature","author":"Shaffer LG","year":"2009"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/0165-4608(85)90032-9"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.5858\/2010-0085-OAR1.1"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-018-0018-z"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24553"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.24395"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-018-0121-1"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.25265","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.25265","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:51:31Z","timestamp":1694782291000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.25265"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,9,26]]},"references-count":13,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2018,12]]}},"alternative-id":["10.1002\/ajh.25265"],"URL":"https:\/\/doi.org\/10.1002\/ajh.25265","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,9,26]]},"assertion":[{"value":"2018-08-10","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-08-22","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-09-26","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}