{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T11:19:04Z","timestamp":1740136744152,"version":"3.37.3"},"reference-count":33,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T00:00:00Z","timestamp":1618876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,9,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) are a group of rare and heterogeneous hematopoietic disorders that frequently present a diagnostic challenge. Here we present our institutional experience with next-generation sequencing (NGS), together with morphologic, flow cytometric, and cytogenetic evaluation, in the diagnosis of MDS\/MPN, with particular emphasis on MDS\/MPN unclassifiable (MPN-U).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We evaluated the morphologic, flow cytometric, cytogenetic, and molecular characteristics of all MDS\/MPN cases that underwent NGS at our institution between April 2016 and February 2019.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Thirty-seven cases of MDS\/MPN were identified, including 14 cases of MDS\/MPN-U. Ninety-seven percent harbored mutations and immunophenotypic aberrancies (36\/37), while only 38% had cytogenetic abnormalities (12\/32). The MDS\/MPN-U group had the highest rate of myeloblast phenotypic abnormalities and had a high mutation rate of approximately 2.7 mutated genes per case, most commonly in JAK2, SRSF2, and ASXL1.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>No single ancillary study was abnormal in every case, but all cases had at least one abnormal finding, demonstrating the usefulness of a multiparameter approach to the diagnosis of MDS\/MPN. Although a few specific mutations were found exclusively in MDS\/MPN-U and JAK2 mutations were most prevalent, larger studies are needed to determine whether MDS\/MPN-U has a mutational \u201cfingerprint,\u201d which may aid in diagnosis and targeted therapy.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajcp\/aqaa281","type":"journal-article","created":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T20:13:10Z","timestamp":1616530390000},"page":"634-643","source":"Crossref","is-referenced-by-count":2,"title":["Pathogenic Mutations and Atypical Flow Cytometric Findings Characterize the Majority of Unclassifiable Myelodysplastic\/Myeloproliferative Neoplasms"],"prefix":"10.1093","volume":"156","author":[{"given":"Yanchun","family":"Li","sequence":"first","affiliation":[{"name":"Department of Pathology, University Hospitals Cleveland Medical Center , Cleveland, OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rose C","family":"Beck","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospitals Cleveland Medical Center , Cleveland, OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5387-2409","authenticated-orcid":false,"given":"Erika M","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology, University Hospitals Cleveland Medical Center , Cleveland, OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2021,4,20]]},"reference":[{"key":"2023021215112899400_CIT0001","doi-asserted-by":"crossref","first-page":"1308","DOI":"10.1038\/leu.2008.119","article-title":"The myelodysplastic\/myeloproliferative neoplasms: myeloproliferative diseases with dysplastic features","volume":"22","author":"Orazi","year":"2008","journal-title":"Leukemia."},{"volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid 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CMML","volume":"92","author":"Lacronique-Gazaille","year":"2007","journal-title":"Haematologica."},{"key":"2023021215112899400_CIT0006","doi-asserted-by":"crossref","first-page":"168","DOI":"10.1111\/ejh.12477","article-title":"Flow cytometry immunophenotypic findings in chronic myelomonocytic leukemia and its utility in monitoring treatment response","volume":"95","author":"Shen","year":"2015","journal-title":"Eur J Haematol."},{"key":"2023021215112899400_CIT0007","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1038\/leu.2014.8","article-title":"Myelodysplastic\/myeloproliferative neoplasms, unclassifiable (MDS\/MPN, U): natural history and clinical outcome by treatment strategy","volume":"28","author":"DiNardo","year":"2014","journal-title":"Leukemia."},{"key":"2023021215112899400_CIT0008","doi-asserted-by":"crossref","first-page":"2100","DOI":"10.1182\/blood-2018-05-848473","article-title":"Mutational landscape of myelodysplastic\/myeloproliferative 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