{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T21:07:07Z","timestamp":1768424827457,"version":"3.49.0"},"reference-count":33,"publisher":"MDPI AG","issue":"19","license":[{"start":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T00:00:00Z","timestamp":1759795200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003725","name":"Korean Government (MSIT)","doi-asserted-by":"publisher","award":["RS-2025-00519514"],"award-info":[{"award-number":["RS-2025-00519514"]}],"id":[{"id":"10.13039\/501100003725","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Myelodysplastic\/myeloproliferative neoplasms (MDS\/MPNs) are rare hematopoietic disorders that exhibit overlapping pathological and molecular features of both MDS and MPN. This study aimed to investigate the mutational profiles and prognostic implications of MDS\/MPN subtypes in Korean patients. Methods: We retrospectively reviewed 53 patients with MDS\/MPN who underwent bone marrow examination and next-generation sequencing panel testing. Overall survival was analyzed with 3-year censoring. The cohort included chronic myelomonocytic leukemia (CMML; N = 30); MDS\/MPN with neutrophilia (N = 6); MDS\/MPN with SF3B1 mutation and thrombocytosis (N = 4); and MDS\/MPN, not otherwise specified (MDS\/MPN-NOS; N = 13). Results: The most frequently mutated gene was ASXL1 (52.8%), followed by TET2 (39.6%) and U2AF1 (18.9%), in total MDS\/MPN. U2AF1 mutations were particularly frequent in myelodysplastic CMML (33.3%) and MDS\/MPN-NOS (30.8%). In CMML, ASXL1 and TET2 mutations were associated with a trend toward better prognosis compared with wild-type (HR 0.21, p = 0.052; HR 0.25, p = 0.057, respectively), while U2AF1 mutations were associated with adverse prognosis in univariate analysis with borderline significance (HR 12.20, p = 0.050). Clinical\/Molecular CMML-Specific Prognostic Scoring System and Mayo Molecular Model showed stepwise survival patterns across risk groups without statistical significance. In univariate analysis, transfusion dependency was associated with poor prognosis (HR 7.78, p = 0.013). Conclusions: This study provides the first single-institution analysis in Korean patients with MDS\/MPN and identified U2AF1 mutations as a potentially significant prognostic factor, enhancing the molecular understanding of MDS\/MPN.<\/jats:p>","DOI":"10.3390\/jcm14197074","type":"journal-article","created":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T12:46:56Z","timestamp":1759841216000},"page":"7074","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Mutational Spectrum and Clinical Outcomes of Myelodysplastic\/Myeloproliferative Neoplasms: A Single-Institution Study in Korea with Emphasis on U2AF1"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4482-3098","authenticated-orcid":false,"given":"Min-Seung","family":"Park","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul 03181, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dae-Ho","family":"Choi","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7423-4676","authenticated-orcid":false,"given":"Jun Ho","family":"Jang","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chul Won","family":"Jung","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee-Jin","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyun-Young","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1038\/s41375-025-02620-8","article-title":"Myelodysplastic syndrome\/myeloproliferative neoplasm overlap syndromes: A practical guide to diagnosis and management","volume":"39","author":"Tremblay","year":"2025","journal-title":"Leukemia"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1182\/asheducation-2011.1.264","article-title":"Myelodysplastic\/myeloproliferative neoplasms","volume":"2011","author":"Cazzola","year":"2011","journal-title":"Hematol. 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