{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T12:24:36Z","timestamp":1793363076218,"version":"4.5.0"},"reference-count":49,"publisher":"American Society of Hematology","issue":"16","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>More than 90% of patients with myelodysplastic\/myeloproliferative neoplasms (MDSs\/MPNs) harbor somatic mutations in myeloid-related genes, but still, current diagnostic criteria do not include molecular data. We performed genome-wide sequencing techniques to characterize the mutational landscape of a large and clinically well-characterized cohort including 367 adults with MDS\/MPN subtypes, including chronic myelomonocytic leukemia (CMML; n = 119), atypical chronic myeloid leukemia (aCML; n = 71), MDS\/MPN with ring sideroblasts and thrombocytosis (MDS\/MPN-RS-T; n = 71), and MDS\/MPN unclassifiable (MDS\/MPN-U; n = 106). A total of 30 genes were recurrently mutated in \u22653% of the cohort. Distribution of recurrently mutated genes and clonal architecture differed among MDS\/MPN subtypes. Statistical analysis revealed significant correlations between recurrently mutated genes, as well as genotype-phenotype associations. We identified specific gene combinations that were associated with distinct MDS\/MPN subtypes and that were mutually exclusive with most of the other MDSs\/MPNs (eg, TET2-SRSF2 in CMML, ASXL1-SETBP1 in aCML, and SF3B1-JAK2 in MDS\/MPN-RS-T). Patients with MDS\/MPN-U were the most heterogeneous and displayed different molecular profiles that mimicked the ones observed in other MDS\/MPN subtypes and that had an impact on the outcome of the patients. Specific gene mutations also had an impact on the outcome of the different MDS\/MPN subtypes, which may be relevant for clinical decision-making. Overall, the results of this study help to elucidate the heterogeneity found in these neoplasms, which can be of use in the clinical setting of MDS\/MPN.<\/jats:p>","DOI":"10.1182\/blood.2019004229","type":"journal-article","created":{"date-parts":[[2020,6,23]],"date-time":"2020-06-23T14:03:13Z","timestamp":1592920993000},"page":"1851-1862","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":179,"title":["Molecular landscape and clonal architecture of adult myelodysplastic\/myeloproliferative neoplasms"],"prefix":"10.1182","volume":"136","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3176-6271","authenticated-orcid":false,"given":"Laura","family":"Palomo","sequence":"first","affiliation":[{"name":"Myelodysplastic Syndromes (MDS) Group, Josep Carreras Leukaemia Research Institute, Institut Catal\u00e0 d\u2019Oncologia-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manja","family":"Meggendorfer","sequence":"additional","affiliation":[{"name":"Munich Leukemia Laboratory (MLL), Munich, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephan","family":"Hutter","sequence":"additional","affiliation":[{"name":"Munich Leukemia Laboratory (MLL), Munich, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0326-5704","authenticated-orcid":false,"given":"Sven","family":"Twardziok","sequence":"additional","affiliation":[{"name":"Munich Leukemia Laboratory (MLL), Munich, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vera","family":"Adem\u00e0","sequence":"additional","affiliation":[{"name":"Department of Translational Hematology and Oncology Research, Taussig Cancer Institute, Cleveland Clinic, Cleveland, OH; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Fuhrmann","sequence":"additional","affiliation":[{"name":"Munich Leukemia Laboratory (MLL), Munich, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1220-6183","authenticated-orcid":false,"given":"Francisco","family":"Fuster-Tormo","sequence":"additional","affiliation":[{"name":"Myelodysplastic Syndromes (MDS) Group, Josep Carreras Leukaemia Research Institute, Institut Catal\u00e0 d\u2019Oncologia-Hospital Germans Trias i Pujol, Universitat Aut\u00f2noma de Barcelona, Barcelona, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Xicoy","sequence":"additional","affiliation":[{"name":"Hematology Service, Institut Catal\u00e0 d\u2019Oncologia-Hospital Germans Trias i Pujol, Josep Carreras Leukaemia Research Institute, Barcelona, 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