{"entity": "researcher", "timestamp": "2026-08-20T20:48:37.212Z", "family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "affiliations": ["Center for Hematology and Regenerative Medicine, Department of Medicine Huddinge, Karolinska Institutet, Huddinge, Sweden.", "Department of Medicine, Division of Hematology, Karolinska University Hospital, Huddinge, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36"}}, "publications": [{"entity": "publication", "iuid": "4fa302a131c347a4967d5d96e978a559", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4fa302a131c347a4967d5d96e978a559.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4fa302a131c347a4967d5d96e978a559"}}, "title": "SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.", "authors": [{"family": "Thier", "given": "Jonas", "initials": "J", "orcid": "0009-0007-5226-0372", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2670901806e94464820ea6749c625a41.json"}}, {"family": "Hofmann", "given": "Sophia", "initials": "S", "orcid": "0009-0006-6625-8348", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5299df88b9d04e93b39f5a2ec32f4e26.json"}}, {"family": "Kirchhof", "given": "Katharina M", "initials": "KM", "orcid": "0000-0001-8412-4585", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6fd0174077664b6c94b948c4b6f97346.json"}}, {"family": "Todisco", "given": "Gabriele", "initials": "G", "orcid": "0000-0001-6583-3829", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/769f70d382bc46cfbfffa0b5cd16710f.json"}}, {"family": "Mortera-Blanco", "given": "Teresa", "initials": "T", "orcid": "0000-0002-8399-1430", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2afa2c9bceb44bd7aa4810e7846b5607.json"}}, {"family": "Lilienthal", "given": "Ingrid", "initials": "I", "orcid": "0000-0001-5270-7268", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5831c58c547d47f9826997c52763a30b.json"}}, {"family": "Kanellis", "given": "Dimitris C", "initials": "DC", "orcid": "0000-0001-8690-2010", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14307e4299ce40a49d2e45265398676c.json"}}, {"family": "Barbosa", "given": "Indira", "initials": "I", "orcid": "0009-0004-1171-2932", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2c92d74875a9433fafc001f47e3f48c3.json"}}, {"family": "Bj\u00f6rklund", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0009-0008-3745-503X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2646432d278e40b79a75cbb5222ceb39.json"}}, {"family": "Deslauriers", "given": "Andr\u00e9 G", "initials": "AG", "orcid": "0000-0002-2854-5681", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2bcb1a0e3ce6438ab3aec7e24a383d3a.json"}}, {"family": "Bartek", "given": "Jiri", "initials": "J", "orcid": "0000-0003-2013-7525", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/288939950c0c4c6393d35c84e5128b5f.json"}}, {"family": "Herold", "given": "Nikolas", "initials": "N", "orcid": "0000-0001-9468-4543", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/749eedaa5f69414aa315bb875eef9475.json"}}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E", "orcid": "0000-0003-1709-8983", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6ea61c4aa9324a398fffe747c0e7824d.json"}}, {"family": "Papapetrou", "given": "Eirini P", "initials": "EP", "orcid": "0000-0001-7002-417X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7951631751334226bc25259c6af73da8.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}, {"family": "Moura", "given": "Pedro L", "initials": "PL", "orcid": "0000-0002-0493-5394", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ac418bab887f4153b20d77dfc455b3a7.json"}}, {"family": "Lundin", "given": "Vanessa", "initials": "V", "orcid": "0000-0003-2335-3370", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9b746851c7044c7f8563cc39ed9f457e.json"}}], "type": "journal article", "published": "2025-11-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "39", "issue": "11", "pages": "2801-2811", "issn-l": "0887-6924"}, "abstract": "Myelodysplastic syndromes with somatic mutations in the splicing factor SF3B1 gene (MDS-SF3B1) result in RNA mis-splicing, erythroid dysplasia and ultimately refractory anemia. Precision medicine approaches for MDS-SF3B1 remain challenging due to both the complexity of the mis-splicing landscape and its evaluation in disease-accurate models. To uncover novel RNA mis-splicing events, isogenic SF3B1K700E and SF3B1WT iPSC lines from an MDS-SF3B1 patient were differentiated into hematopoietic cells and analyzed via unsupervised splicing event profiling using full-length RNA sequencing. This identified SF3B1K700E-specific mis-splicing of ubiquitin-like modifier activating enzyme 1 (UBA1), which encodes a key E1 protein at the apex of the ubiquitination cascade. UBA1 mis-splicing (UBA1ms) introduced protein instability and decreased total UBA1 levels, rendering mutated cells susceptible to the small-molecule UBA1 inhibitor TAK-243. Analysis of CD34+ RNA sequencing data from an MDS patient cohort confirmed unique and ubiquitous UBA1ms in MDS-SF3B1 patients, absent in other splicing factor-mutated MDS cases or healthy controls. TAK-243 selectively targeted MDS-SF3B1 primary CD34+ cells and reduced mutant cell numbers in colony-forming assays. In contrast, normal hematopoietic progenitor cells were unaffected. Altogether, we here define UBA1ms as a novel therapeutic vulnerability in SF3B1-mutant cells, introducing UBA1 inhibition as a potential avenue for future MDS-SF3B1 treatments.", "doi": "10.1038/s41375-025-02740-1", "pmid": "40858805", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12589102"}, {"db": "pii", "key": "10.1038/s41375-025-02740-1"}], "notes": [], "created": "2026-08-20T08:47:24.962Z", "modified": "2026-08-20T08:47:51.017Z"}, {"entity": "publication", "iuid": "1ca810eb4a464acd9c1135079b705e9f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/1ca810eb4a464acd9c1135079b705e9f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/1ca810eb4a464acd9c1135079b705e9f"}}, "title": "Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.", "authors": [{"family": "Tesi", "given": "Bianca", "initials": "B", "orcid": "0000-0002-8253-2507", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d54bd9449574d829a096eb7b0bbe826.json"}}, {"family": "Robelius", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d37bf77253344a92968b4adb46c6f98c.json"}}, {"family": "Baskin", "given": "Berivan", "initials": "B", "orcid": "0000-0001-5994-9868", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/208c9890e6734dd2a128fdaca3fafea6.json"}}, {"family": "Lazarevic", "given": "Vladimir", "initials": "V", "orcid": "0000-0002-1782-4423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9f33c39109f2469fad15c5265560be69.json"}}, {"family": "Deneberg", "given": "Stefan", "initials": "S", "orcid": "0000-0003-1888-5567", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ed631edb31ba4d40bf4f9911576adbb5.json"}}, {"family": "H\u00f6glund", "given": "Martin", "initials": "M", "orcid": "0000-0003-2468-0226", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b04dde8160944595a255121a2571d2da.json"}}, {"family": "Fogelstrand", "given": "Linda", "initials": "L", "orcid": "0000-0003-3698-8519", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b55329d89c6f43918053de8fe50f0d02.json"}}, {"family": "Ungerstedt", "given": "Johanna", "initials": "J", "orcid": "0000-0002-0202-7296", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2ca02a25d0d414bb4ec81978ec50083.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T", "orcid": "0009-0006-9032-4616", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3e91e7d27d224755bb765dd5a6ffb93f.json"}}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee9bc9b141be467093fd27454e8dcc6f.json"}}, {"family": "Garelius", "given": "Hege Gravdahl", "initials": "HG", "orcid": "0000-0003-2553-7659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e37c4fca27f4cdbaca481df7cf296b2.json"}}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E", "orcid": "0009-0009-3347-6658", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6db306b5e8c24cc3b9b2c15600de91ea.json"}}, {"family": "Persson", "given": "Fredrik", "initials": "F", "orcid": "0000-0002-5374-4770", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5355c3a8a34e4d5085399541179d777b.json"}}, {"family": "\u00c5gerstam", "given": "Helena", "initials": "H", "orcid": "0009-0002-8216-3876", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/88a9fb7dad5c459d855ae482e70bcc73.json"}}, {"family": "Hallb\u00f6\u00f6k", "given": "Helene", "initials": "H", "orcid": "0000-0002-5764-3213", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d58bc3bea9f34f659c0a622f4c5d01b8.json"}}, {"family": "Fioretos", "given": "Thoas", "initials": "T", "orcid": "0000-0002-3235-6154", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/34c176e18c654f5d9adc7b360640ced8.json"}}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a285875862f24b6fa0b378550da371fa.json"}}, {"family": "Norberg", "given": "Anna", "initials": "A", "orcid": "0000-0003-2947-8879", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a4fc86d9fa4740cd94c14f927efa68f4.json"}}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0000-0002-4018-5551", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bec23259b4834998952ec6aa9a44a778.json"}}, {"family": "Lehmann", "given": "S\u00f6ren", "initials": "S", "orcid": "0000-0001-8374-8978", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/43d133286866496496243fdef32c300e.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb.json"}}, {"family": "Barbany", "given": "Gisela", "initials": "G", "orcid": "0000-0003-3185-2962", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8495484de2f4a22b7d7750d503fdf24.json"}}, {"family": "Vennstr\u00f6m", "given": "Lovisa", "initials": "L", "orcid": "0009-0002-7300-5438", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dff45c31631a4f15abb349b28d516ab8.json"}}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E", "orcid": "0009-0009-8190-1073", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/be8e641d2401406996ceacfed8c25d5b.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa2064616ff6495cb32d646823f0f8fc.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J", "orcid": "0009-0001-0668-607X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc8b87e1de554c99a7923bd7bc3caafa.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4eec9a58630e4c6eb3596e184f8918d1.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}], "type": "journal article", "published": "2025-07-15", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "volume": "31", "issue": "14", "pages": "3062-3071", "issn-l": "1078-0432"}, "abstract": "In a multicenter prospective cohort study, we assessed the diagnostic yield of the Nordic guidelines for germline investigation in myeloid neoplasms and mapped the spectrum of inherited and somatic variants.\n\nEighty-five patients (acute myeloid leukemia, n = 38; myelodysplastic syndromes, n = 26; thrombocytopenia, n = 14; and other, n = 7) fulfilling the Nordic criteria for germline investigation, based on (i) medical history or family history suggestive of a germline condition and (ii) relevant findings from the somatic diagnostic work-up (CytoMol), were recruited. The genetic analysis included enhanced whole-exome sequencing (n = 69) or sequencing of specific variants of interest (n = 16).\n\nPathogenic or likely pathogenic (P/LP) germline variants were identified in 35% of patients (30/85). The diagnostic yield varied from 6% (1/16) in the family history group to 52% (17/33) in the CytoMol group. Germline DDX41 P/LP variants were the most frequent finding (13/30, 43% of all positive cases) almost exclusively found within the CytoMol group (12/13). Seven variants of unknown significance were also detected (TERT n = 2 and DDX41, RTEL1, ETV6, PARN, and SAMD9 n = 1). Five patients carried a P/LP variant in genes associated with another hereditary cancer syndrome (BRCA1 n = 3; PALB2 n = 1; and CHEK2; n = 1). Survival analysis showed a trend for longer survival among patients with acute myeloid leukemia and confirmed or suspected germline predisposition that underwent allogeneic stem cell transplantation.\n\nThe implementation of the Nordic guidelines in a prospective Swedish cohort results in a high overall diagnostic yield (35%), proving the feasibility and utility of these or similar guidelines in a clinical setting.", "doi": "10.1158/1078-0432.CCR-24-4251", "pmid": "40388595", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12260513"}, {"db": "pii", "key": "762516"}], "notes": [], "created": "2026-08-20T12:12:24.777Z", "modified": "2026-08-20T12:12:25.694Z"}, {"entity": "publication", "iuid": "23a35c74f08a4b71b7f22951612cf133", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/23a35c74f08a4b71b7f22951612cf133.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/23a35c74f08a4b71b7f22951612cf133"}}, "title": "Patient-Specific Measurable Residual Disease Markers Predict Outcome in Patients With Myelodysplastic Syndrome and Related Diseases After Hematopoietic Stem-Cell Transplantation.", "authors": [{"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ee9bc9b141be467093fd27454e8dcc6f.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Illman", "given": "Johanna", "initials": "J"}, {"family": "Nilsson", "given": "Lars", "initials": "L"}, {"family": "Westr\u00f6m", "given": "Simone", "initials": "S"}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E"}, {"family": "Olesen", "given": "Gitte", "initials": "G"}, {"family": "Bj\u00f6rklund", "given": "Andreas", "initials": "A"}, {"family": "Olsnes Kittang", "given": "Astrid", "initials": "A"}, {"family": "Werlenius", "given": "Olle", "initials": "O"}, {"family": "Lorentz", "given": "Fryderyk", "initials": "F"}, {"family": "Rasmussen", "given": "Bengt", "initials": "B", "orcid": "0000-0003-0972-9853", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5642eb308e1b4da8abf6812440ff5c7f.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J"}, {"family": "Weber", "given": "Duruta", "initials": "D", "orcid": "0000-0002-0442-7023", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4ba0db6233864193bec20cfc7ca887fb.json"}}, {"family": "Lindholm", "given": "Carolin", "initials": "C", "orcid": "0000-0002-0855-7095", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/669f397d0ce1416aaf04f4054fd90732.json"}}, {"family": "Wiggh", "given": "Joel", "initials": "J"}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/96daf7ad302d49ca938bb2d6043dda28.json"}}, {"family": "Moen", "given": "Ann Elin", "initials": "AE"}, {"family": "Yip Lundstr\u00f6m", "given": "Laimei", "initials": "L", "orcid": "0009-0004-3037-2750", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cbded003296546ba910cf1759720a43a.json"}}, {"family": "von Bahr", "given": "Lena", "initials": "L", "orcid": "0009-0003-5026-8195", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4e70bda0952d4e138ab655618230330a.json"}}, {"family": "Baltzer-Sollander", "given": "Karin", "initials": "K", "orcid": "0009-0002-8858-6271", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d9811b796bd94729871b3534b24bba50.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4eec9a58630e4c6eb3596e184f8918d1.json"}}, {"family": "Kyt\u00f6l\u00e4", "given": "Soili", "initials": "S"}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fd99aa0b4c5c47b9bf0a99bfd8bae61b.json"}}, {"family": "Ljungman", "given": "Per", "initials": "P", "orcid": "0000-0002-8281-3245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dca9a19fd8ec477baf2109f191599c6b.json"}}, {"family": "Groenbaek", "given": "Kirsten", "initials": "K"}, {"family": "Mielke", "given": "Stephan", "initials": "S", "orcid": "0000-0002-8325-9215", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e252f7353163408cad14e163349e0fa4.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7a57175f43784cc2b545be052d6790c8.json"}}, {"family": "Ebeling", "given": "Freja", "initials": "F", "orcid": "0000-0002-7921-089X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/69dec8dc35324ea8a0ee09bbc5cfc225.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Smidstrup Friis", "given": "Lone", "initials": "L"}, {"family": "Dybedal", "given": "Ingunn", "initials": "I"}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/66eecd3e3886496cb7f7dcaefa5e6a36.json"}}], "type": "observational study", "published": "2024-04-20", "journal": {"title": "J Clin Oncol", "issn": "1527-7755", "volume": "42", "issue": "12", "pages": "1378-1390", "issn-l": "0732-183X"}, "abstract": "Clinical relapse is the major threat for patients with myelodysplastic syndrome (MDS) undergoing hematopoietic stem-cell transplantation (HSCT). Early detection of measurable residual disease (MRD) would enable preemptive treatment and potentially reduced relapse risk.\n\nPatients with MDS planned for HSCT were enrolled in a prospective, observational study evaluating the association between MRD and clinical outcome. We collected bone marrow (BM) and peripheral blood samples until relapse, death, or end of study 24 months after HSCT. Patient-specific mutations were identified with targeted next-generation sequencing (NGS) panel and traced using droplet digital polymerase chain reaction (ddPCR).\n\nOf 266 included patients, estimated relapse-free survival (RFS) and overall survival (OS) rates 3 years after HSCT were 59% and 64%, respectively. MRD results were available for 221 patients. Relapse was preceded by positive BM MRD in 42/44 relapses with complete MRD data, by a median of 71 (23-283) days. Of 137 patients in continuous complete remission, 93 were consistently MRD-negative, 39 reverted from MRD+ to MRD-, and five were MRD+ at last sampling. Estimated 1 year-RFS after first positive MRD was 49%, 39%, and 30%, using cutoff levels of 0.1%, 0.3%, and 0.5%, respectively. In a multivariate Cox model, MRD (hazard ratio [HR], 7.99), WHO subgroup AML (HR, 4.87), TP53 multi-hit (HR, 2.38), NRAS (HR, 3.55), and acute GVHD grade III-IV (HR, 4.13) were associated with shorter RFS. MRD+ was also independently associated with shorter OS (HR, 2.65). In a subgroup analysis of 100 MRD+ patients, presence of chronic GVHD was associated with longer RFS (HR, 0.32).\n\nAssessment of individualized MRD using NGS + ddPCR is feasible and can be used for early detection of relapse. Positive MRD is associated with shorter RFS and OS (ClinicalTrials.gov identifier: NCT02872662).", "doi": "10.1200/JCO.23.01159", "pmid": "38232336", "labels": [], "xrefs": [{"db": "ClinicalTrials.gov", "key": "NCT02872662"}], "notes": [], "created": "2026-08-20T12:37:52.901Z", "modified": "2026-08-20T12:37:53.448Z"}]}