{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T23:54:35Z","timestamp":1783814075775,"version":"3.55.0"},"reference-count":31,"publisher":"MDPI AG","issue":"18","license":[{"start":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T00:00:00Z","timestamp":1727049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>The accurate diagnosis and classification of myelodysplastic\/myeloproliferative neoplasm (MDS\/MPN) are challenging due to the overlapping pathological and molecular features of myelodysplastic syndrome (MDS) and myeloproliferative neoplasm (MPN). We investigated the genomic landscape in different MDS\/MPN subtypes, including chronic myelomonocytic leukemia (CMML; n = 97), atypical chronic myeloid leukemia (aCML; n = 8), MDS\/MPN-unclassified (MDS\/MPN-U; n = 44), and MDS\/MPN with ring sideroblasts and thrombocytosis (MDS\/MPN-RS-T; n = 12). Our study indicated that MDS\/MPN is characterized by mutations commonly identified in myeloid neoplasms, with TET2 (52%) being the most frequently mutated gene, followed by ASXL1 (38.7%), SRSF2 (34.7%), and JAK2 (19.7%), among others. However, the distribution of recurrent mutations differs across the MDS\/MPN subtypes. We confirmed that specific gene combinations correlate with specific MDS\/MPN subtypes (e.g., TET2\/SRSF2 in CMML, ASXL1\/SETBP1 in aCML, and SF3B1\/JAK2 in MDS\/MPN-RS-T), with MDS\/MPN-U being the most heterogeneous. Furthermore, we found that older age (\u226565 years) and mutations in RUNX1 and TP53 were associated with poorer clinical outcomes in CMML (p &lt; 0.05) by multivariate analysis. In MDS\/MPN-U, CBL mutations (p &lt; 0.05) were the sole negative prognostic factors identified in our study by multivariate analysis (p &lt; 0.05). Overall, our study provides genetic insights into various MDS\/MPN subtypes, which may aid in diagnosis and clinical decision-making for patients with MDS\/MPN.<\/jats:p>","DOI":"10.3390\/ijms251810214","type":"journal-article","created":{"date-parts":[[2024,9,23]],"date-time":"2024-09-23T09:15:07Z","timestamp":1727082907000},"page":"10214","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Genomic Landscape of Myelodysplastic\/Myeloproliferative Neoplasms: A Multi-Central Study"],"prefix":"10.3390","volume":"25","author":[{"given":"Fei","family":"Fei","sequence":"first","affiliation":[{"name":"Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar","family":"Jariwala","sequence":"additional","affiliation":[{"name":"Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"},{"name":"Fulgent Oncology, 4399 Santa Anita Ave, El Monte, CA 91731, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1490-2374","authenticated-orcid":false,"given":"Sheeja","family":"Pullarkat","sequence":"additional","affiliation":[{"name":"Department of Pathology, Division of Hematopathology, University of Los Angeles Medical Center, Los Angeles, CA 90095, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Loo","sequence":"additional","affiliation":[{"name":"Department of Pathology, Dartmouth\u2013Hitchcock Medical Center, Lebanon, NH 03756, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Loma Linda University Health, Loma Linda, CA 92350, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parastou","family":"Tizro","sequence":"additional","affiliation":[{"name":"Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9728-7292","authenticated-orcid":false,"given":"Haris","family":"Ali","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7782-8805","authenticated-orcid":false,"given":"Salman","family":"Otoukesh","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Idoroenyi","family":"Amanam","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Artz","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feras","family":"Ally","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Washington Medical Center, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Milhan","family":"Telatar","sequence":"additional","affiliation":[{"name":"Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryotaro","family":"Nakamura","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guido","family":"Marcucci","sequence":"additional","affiliation":[{"name":"Department of Hematology and Hematopoietic Cell Transplantation, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5830-6158","authenticated-orcid":false,"given":"Michelle","family":"Afkhami","sequence":"additional","affiliation":[{"name":"Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA 91010, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,9,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_2","unstructured":"Swerdlow, S.H., Campo, E., Jaffe, E.S., Pileri, S.A., Stein, H., Thiele, J., Arber, D.A., Hasserjian, R.P., Le Beau, M.M., and Orazi, A. 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