{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T03:20:10Z","timestamp":1778556010544,"version":"3.51.4"},"reference-count":33,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T00:00:00Z","timestamp":1626393600000},"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":["Int J Lab Hematology"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>The diagnosis of myelodysplastic syndromes (MDS) and myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) is based on morphology and cytogenetics\/FISH findings per 2017 WHO classification. With rare exceptions, somatic mutations have not been incorporated as the diagnostic criteria.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We analyzed the utility of mutational analysis with a targeted 54\u2010gene or 40\u2010gene next\u2010generation sequencing (NGS) panel in the diagnosis of MDS and MDS\/MPN.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We retrospectively collected\u00a092 patients\u00a0who presented with\u00a0unexplained cytopenia with or without\u00a0cytosis, including 32 low\u2010grade MDS (MDS\u2010L), 18 high\u2010grade MDS (MDS\u2010H), 5 therapy\u2010related MDS (MDS\u2010TR), 19 MDS\/MPN, and 18 negative cases. Of 92 patients, 197 somatic mutations involving 38 genes were detected\u00a0and had\u00a0variant allele frequency (VAF) ranging from 3%\u00a0to\u00a099%.\u00a0The most common mutated genes were\u00a0<jats:italic>TET2<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>, <jats:italic>RUNX1, TP53, SRSF2, and SF3B1<\/jats:italic>. MDS\u2010L, MDS\u2010H, MDS\u2010TR, and MDS\/MPN showed an average number of somatic mutations with a mean VAF of 1.9\/33%, 2.6\/30%, 2\/36%, and 4\/41%,\u00a0respectively. <jats:italic>SF3B1<\/jats:italic> mutations were exclusively observed in MDS\u2010L and MDS\/MPN. <jats:italic>TP53<\/jats:italic> gene mutations were more frequently seen in MDS\u2010H and MDS\u2010TR. Among 34 patients with a diagnosis of MDS or MDS\/MPN with normal cytogenetics, 31 patients (91%) had at least 1 mutation and 24 patients (71%) had \u22652 mutations with \u226510% VAF.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>A myeloid mutational panel provides additional evidence of clonality besides cytogenetics\/FISH studies in the diagnosis of cytopenia with or without cytosis. Two or more mutations with \u226510% VAF highly predicts MDS and MDS\/MPN with a positive predictive value of 100%.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13659","type":"journal-article","created":{"date-parts":[[2021,7,16]],"date-time":"2021-07-16T16:05:39Z","timestamp":1626451539000},"page":"1501-1509","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["The utility of a myeloid mutation panel for the diagnosis of myelodysplastic syndrome and myelodysplastic\/myeloproliferative neoplasm"],"prefix":"10.1111","volume":"43","author":[{"given":"Warda","family":"Ibrar","sequence":"first","affiliation":[{"name":"Department of Pathology and Microbiology University of Nebraska Medical Center Omaha NE USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weiwei","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Microbiology University of Nebraska Medical Center 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USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7835-6662","authenticated-orcid":false,"given":"Ji","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Pathology and Microbiology University of Nebraska Medical Center Omaha NE USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,7,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2014.114660"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102010\u201007\u2010295857"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010009\u20100745\u20103"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02994004"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00277\u2010008\u20100483\u2010y"},{"key":"e_1_2_7_7_1","volume-title":"WHO Classification of Tumours of 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