{"entity": "researcher", "timestamp": "2026-07-11T14:16:52.193Z", "family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "affiliations": ["Department of Hematology, Karolinska Institute and Karolinska University Hospital, Stockholm, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9"}}, "publications": [{"entity": "publication", "iuid": "309e4cb30adc40c79c9ac77e220eece6", "links": {"self": {"href": "https://publications.scilifelab.se/publication/309e4cb30adc40c79c9ac77e220eece6.json"}, "display": {"href": "https://publications.scilifelab.se/publication/309e4cb30adc40c79c9ac77e220eece6"}}, "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.scilifelab.se/researcher/96a994cd257c4833a4efe79e26b900ff.json"}}, {"family": "Robelius", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428.json"}}, {"family": "Baskin", "given": "Berivan", "initials": "B", "orcid": "0000-0001-5994-9868", "researcher": {"href": "https://publications.scilifelab.se/researcher/97aa30696594447c999c200bd11f996b.json"}}, {"family": "Lazarevic", "given": "Vladimir", "initials": "V", "orcid": "0000-0002-1782-4423", "researcher": {"href": "https://publications.scilifelab.se/researcher/7113f0d0569247d4ac94b73ddc6ca74e.json"}}, {"family": "Deneberg", "given": "Stefan", "initials": "S", "orcid": "0000-0003-1888-5567", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1eb998009ee4a468be8e7f8109ef088.json"}}, {"family": "H\u00f6glund", "given": "Martin", "initials": "M", "orcid": "0000-0003-2468-0226", "researcher": {"href": "https://publications.scilifelab.se/researcher/8717164448ee4e2797fefd365103ddc8.json"}}, {"family": "Fogelstrand", "given": "Linda", "initials": "L", "orcid": "0000-0003-3698-8519", "researcher": {"href": "https://publications.scilifelab.se/researcher/f39ff709aa0646b8ad5e520780a0ad49.json"}}, {"family": "Ungerstedt", "given": "Johanna", "initials": "J", "orcid": "0000-0002-0202-7296", "researcher": {"href": "https://publications.scilifelab.se/researcher/04b6b5dd2f4845e38f4ad133608fe022.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T", "orcid": "0009-0006-9032-4616", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b7ad159e7524989a3eacd65b251ca9f.json"}}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}}, {"family": "Garelius", "given": "Hege Gravdahl", "initials": "HG", "orcid": "0000-0003-2553-7659", "researcher": {"href": "https://publications.scilifelab.se/researcher/25307333f50942bbb7db3f84e094f7f3.json"}}, {"family": "Kuchinskaya", "given": "Ekaterina", "initials": "E", "orcid": "0009-0009-3347-6658", "researcher": {"href": "https://publications.scilifelab.se/researcher/d229b0af7f884fcb9d2a2832f59888ff.json"}}, {"family": "Persson", "given": "Fredrik", "initials": "F", "orcid": "0000-0002-5374-4770", "researcher": {"href": "https://publications.scilifelab.se/researcher/33f1e0d34d5844e5b9d042b4d68df22c.json"}}, {"family": "\u00c5gerstam", "given": "Helena", "initials": "H", "orcid": "0009-0002-8216-3876", "researcher": {"href": "https://publications.scilifelab.se/researcher/55f2c7f5067949dbbce9a4bf505807b6.json"}}, {"family": "Hallb\u00f6\u00f6k", "given": "Helene", "initials": "H", "orcid": "0000-0002-5764-3213", "researcher": {"href": "https://publications.scilifelab.se/researcher/2478793f7c5945ba9f00cde3f39b62c4.json"}}, {"family": "Fioretos", "given": "Thoas", "initials": "T", "orcid": "0000-0002-3235-6154", "researcher": {"href": "https://publications.scilifelab.se/researcher/35a5c1b6023345c6b1317c590bf80680.json"}}, {"family": "Nordin", "given": "Jessika", "initials": "J", "orcid": "0000-0002-8414-2190", "researcher": {"href": "https://publications.scilifelab.se/researcher/2603df7f3ff84e6980605b9e8eef4c2f.json"}}, {"family": "Norberg", "given": "Anna", "initials": "A", "orcid": "0000-0003-2947-8879", "researcher": {"href": "https://publications.scilifelab.se/researcher/32e3c81cf4da410db2feaac562e88846.json"}}, {"family": "Thuresson", "given": "Ann-Charlotte", "initials": "AC", "orcid": "0000-0002-4018-5551", "researcher": {"href": "https://publications.scilifelab.se/researcher/829bcbc2bb734d848f7b370546aca35c.json"}}, {"family": "Lehmann", "given": "S\u00f6ren", "initials": "S", "orcid": "0000-0001-8374-8978", "researcher": {"href": "https://publications.scilifelab.se/researcher/4be462a447404937857936f77677da2f.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c5c362dc308476195eb55d2e588ba60.json"}}, {"family": "Barbany", "given": "Gisela", "initials": "G", "orcid": "0000-0003-3185-2962", "researcher": {"href": "https://publications.scilifelab.se/researcher/13fda0d702d543f981898ebd53849817.json"}}, {"family": "Vennstr\u00f6m", "given": "Lovisa", "initials": "L", "orcid": "0009-0002-7300-5438", "researcher": {"href": "https://publications.scilifelab.se/researcher/e3b702bc59b147d3adb508358d4e1a18.json"}}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E", "orcid": "0009-0009-8190-1073", "researcher": {"href": "https://publications.scilifelab.se/researcher/6a6b1722a4b34be5a9f3f0780dd34261.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J", "orcid": "0009-0001-0668-607X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f6daacdf33e7443c94c98bec4dec5cf5.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5b56c006df74965adab16c28afeb453.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications.scilifelab.se/researcher/6bf8d52e24234fa8b348ad08f58d1d48.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications.scilifelab.se/researcher/17370bd509dc4b1081af5aed9e5117c7.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": {"Clinical Genomics Lund": "Service", "Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC12260513"}, {"db": "pii", "key": "762516"}], "notes": [], "created": "2025-11-06T06:30:44.017Z", "modified": "2025-11-26T14:14:22.824Z"}, {"entity": "publication", "iuid": "c714edf0f94049f7a17a878576cc517f", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c714edf0f94049f7a17a878576cc517f.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c714edf0f94049f7a17a878576cc517f"}}, "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.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.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.scilifelab.se/researcher/6749923301664b72b448dd1e579bc3c1.json"}}, {"family": "Cammenga", "given": "J\u00f6rg", "initials": "J"}, {"family": "Weber", "given": "Duruta", "initials": "D", "orcid": "0000-0002-0442-7023", "researcher": {"href": "https://publications.scilifelab.se/researcher/7374defaecd54d88badd32133e47d60b.json"}}, {"family": "Lindholm", "given": "Carolin", "initials": "C", "orcid": "0000-0002-0855-7095", "researcher": {"href": "https://publications.scilifelab.se/researcher/2e87d4333bb845619f6484c34d7cca59.json"}}, {"family": "Wiggh", "given": "Joel", "initials": "J"}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications.scilifelab.se/researcher/531c153359bb400fb48c7324a3bd69ad.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.scilifelab.se/researcher/191cf1227e36422499e688c267d3464c.json"}}, {"family": "von Bahr", "given": "Lena", "initials": "L", "orcid": "0009-0003-5026-8195", "researcher": {"href": "https://publications.scilifelab.se/researcher/51d98e97847249b1bab62d1956508710.json"}}, {"family": "Baltzer-Sollander", "given": "Karin", "initials": "K", "orcid": "0009-0002-8858-6271", "researcher": {"href": "https://publications.scilifelab.se/researcher/8017c957dafd44fa87c030b2280a5189.json"}}, {"family": "J\u00e4dersten", "given": "Martin", "initials": "M", "orcid": "0000-0001-5217-3235", "researcher": {"href": "https://publications.scilifelab.se/researcher/f5b56c006df74965adab16c28afeb453.json"}}, {"family": "Kyt\u00f6l\u00e4", "given": "Soili", "initials": "S"}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications.scilifelab.se/researcher/24fb888d0212421eaa2353ed6cc31ac7.json"}}, {"family": "Ljungman", "given": "Per", "initials": "P", "orcid": "0000-0002-8281-3245", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e5e4220ae354a2e99cd69797638a529.json"}}, {"family": "Groenbaek", "given": "Kirsten", "initials": "K"}, {"family": "Mielke", "given": "Stephan", "initials": "S", "orcid": "0000-0002-8325-9215", "researcher": {"href": "https://publications.scilifelab.se/researcher/dbb6778eb9964f9cbd9ffc260892d609.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications.scilifelab.se/researcher/648fc5e4f49e4330b095c26cd965cc98.json"}}, {"family": "Ebeling", "given": "Freja", "initials": "F", "orcid": "0000-0002-7921-089X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5318f08e1aff4e988f961f1c7806d1bb.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.scilifelab.se/researcher/6bf8d52e24234fa8b348ad08f58d1d48.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": null}, "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": {"Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "ClinicalTrials.gov", "key": "NCT02872662"}], "notes": [], "created": "2024-11-22T09:06:59.162Z", "modified": "2024-11-22T09:07:01.208Z"}, {"entity": "publication", "iuid": "d95f4f6b8ceb4ca7b80714ec7fcb18f4", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d95f4f6b8ceb4ca7b80714ec7fcb18f4.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d95f4f6b8ceb4ca7b80714ec7fcb18f4"}}, "title": "Identification and surveillance of rare relapse-initiating stem cells during complete remission after transplantation.", "authors": [{"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications.scilifelab.se/researcher/531c153359bb400fb48c7324a3bd69ad.json"}}, {"family": "Mortera-Blanco", "given": "Teresa", "initials": "T"}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}}, {"family": "Mazzi", "given": "Stefania", "initials": "S"}, {"family": "Lehander", "given": "Madeleine", "initials": "M", "orcid": "0009-0005-0114-4502", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad724c37fc354c209b21b9b60431bf8e.json"}}, {"family": "H\u00f6gstrand", "given": "Kari", "initials": "K"}, {"family": "Karimi", "given": "Mohsen", "initials": "M"}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications.scilifelab.se/researcher/24fb888d0212421eaa2353ed6cc31ac7.json"}}, {"family": "Jansson", "given": "Monika", "initials": "M"}, {"family": "Vonlanthen", "given": "Sofie", "initials": "S", "orcid": "0000-0002-6215-7631", "researcher": {"href": "https://publications.scilifelab.se/researcher/376695e4d6f54d1caf6e776bf537864b.json"}}, {"family": "Ljungman", "given": "Per", "initials": "P", "orcid": "0000-0002-8281-3245", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e5e4220ae354a2e99cd69797638a529.json"}}, {"family": "Langemeijer", "given": "Saskia", "initials": "S"}, {"family": "Yoshizato", "given": "Tetsuichi", "initials": "T", "orcid": "0000-0003-4283-2983", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6f499e339d2444b817a81ab2712b9e5.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E"}, {"family": "Woll", "given": "Petter S", "initials": "PS", "orcid": "0000-0002-2340-2526", "researcher": {"href": "https://publications.scilifelab.se/researcher/77ae0c1d2cf5461894c6d0d80ed42f68.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications.scilifelab.se/researcher/648fc5e4f49e4330b095c26cd965cc98.json"}}], "type": "journal article", "published": "2024-03-14", "journal": {"title": "Blood", "issn": "1528-0020", "volume": "143", "issue": "11", "pages": "953-966", "issn-l": "0006-4971"}, "abstract": "Relapse after complete remission (CR) remains the main cause of mortality after allogeneic stem cell transplantation for hematological malignancies and, therefore, improved biomarkers for early prediction of relapse remains a critical goal toward development and assessment of preemptive relapse treatment. Because the significance of cancer stem cells as a source of relapses remains unclear, we investigated whether mutational screening for persistence of rare cancer stem cells would enhance measurable residual disease (MRD) and early relapse prediction after transplantation. In a retrospective study of patients who relapsed and patients who achieved continuous-CR with myelodysplastic syndromes and related myeloid malignancies, combined flow cytometric cell sorting and mutational screening for persistence of rare relapse-initiating stem cells was performed in the bone marrow at multiple CR time points after transplantation. In 25 CR samples from 15 patients that later relapsed, only 9 samples were MRD-positive in mononuclear cells (MNCs) whereas flowcytometric-sorted hematopoietic stem and progenitor cells (HSPCs) were MRD-positive in all samples, and always with a higher variant allele frequency than in MNCs (mean, 97-fold). MRD-positivity in HSPCs preceded MNCs in multiple sequential samples, in some cases preceding relapse by >2 years. In contrast, in 13 patients in long-term continuous-CR, HSPCs remained MRD-negative. Enhanced MRD sensitivity was also observed in total CD34+ cells, but HSPCs were always more clonally involved (mean, 8-fold). In conclusion, identification of relapse-initiating cancer stem cells and mutational MRD screening for their persistence consistently enhances MRD sensitivity and earlier prediction of relapse after allogeneic stem cell transplantation.", "doi": "10.1182/blood.2023022851", "pmid": "38096358", "labels": {"NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "NGI Short read": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10950475"}, {"db": "pii", "key": "S0006-4971(23)14644-1"}], "notes": [], "created": "2024-10-21T11:19:06.816Z", "modified": "2024-10-21T11:19:21.211Z"}, {"entity": "publication", "iuid": "758ed2f2baf84c95a00b6eeab7da6edc", "links": {"self": {"href": "https://publications.scilifelab.se/publication/758ed2f2baf84c95a00b6eeab7da6edc.json"}, "display": {"href": "https://publications.scilifelab.se/publication/758ed2f2baf84c95a00b6eeab7da6edc"}}, "title": "Integrated Genomic and Transcriptomic Analysis Improves Disease Classification and Risk Stratification of MDS with Ring Sideroblasts.", "authors": [{"family": "Todisco", "given": "Gabriele", "initials": "G", "orcid": "0000-0001-6583-3829", "researcher": {"href": "https://publications.scilifelab.se/researcher/0bdb2b7dcd8a4fa497748ee5e165f11e.json"}}, {"family": "Creignou", "given": "Maria", "initials": "M", "orcid": "0000-0002-7629-0871", "researcher": {"href": "https://publications.scilifelab.se/researcher/f7d3e87602e943a296e10038400ff2dc.json"}}, {"family": "Bernard", "given": "Elsa", "initials": "E", "orcid": "0000-0002-2057-7187", "researcher": {"href": "https://publications.scilifelab.se/researcher/9a8cab2a7d6b4f17893dddaee1638fb4.json"}}, {"family": "Bj\u00f6rklund", "given": "Ann-Charlotte", "initials": "A"}, {"family": "Moura", "given": "Pedro Luis", "initials": "PL", "orcid": "0000-0002-0493-5394", "researcher": {"href": "https://publications.scilifelab.se/researcher/12216bfd20fa4056b844842908efc829.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B", "orcid": "0000-0002-8253-2507", "researcher": {"href": "https://publications.scilifelab.se/researcher/96a994cd257c4833a4efe79e26b900ff.json"}}, {"family": "Mortera-Blanco", "given": "Teresa", "initials": "T", "orcid": "0000-0002-8399-1430", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a4cccc1f92842b78d19b5c232a655fe.json"}}, {"family": "Sander", "given": "Birgitta", "initials": "B", "orcid": "0000-0002-1214-1340", "researcher": {"href": "https://publications.scilifelab.se/researcher/f77db1f8ad314f2a84d83a114161080c.json"}}, {"family": "Jansson", "given": "Monika", "initials": "M", "orcid": "0000-0002-9257-0873", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccbf1b2b281742feba0dbd215b6f3228.json"}}, {"family": "Walldin", "given": "Gunilla", "initials": "G", "orcid": "0009-0005-6663-6540", "researcher": {"href": "https://publications.scilifelab.se/researcher/24fb888d0212421eaa2353ed6cc31ac7.json"}}, {"family": "Barbosa", "given": "Indira", "initials": "I", "orcid": "0009-0004-1171-2932", "researcher": {"href": "https://publications.scilifelab.se/researcher/20efd8770db84811a240a8bb70c43939.json"}}, {"family": "Reinsbach", "given": "Susanne E", "initials": "SE", "orcid": "0000-0003-0509-2488", "researcher": {"href": "https://publications.scilifelab.se/researcher/a19438fc9f1a4f6ea1e72f9532dffd80.json"}}, {"family": "Hofman", "given": "Isabel Juliana", "initials": "IJ", "orcid": "0000-0001-7825-843X", "researcher": {"href": "https://publications.scilifelab.se/researcher/28b2678b6e1d45299c3a446b4f305762.json"}}, {"family": "Nilsson", "given": "Christer", "initials": "C", "orcid": "0000-0003-0695-0050", "researcher": {"href": "https://publications.scilifelab.se/researcher/7f78180b33fa48cd86474d5c3cdaa852.json"}}, {"family": "Yoshizato", "given": "Tetsuichi", "initials": "T", "orcid": "0000-0003-4283-2983", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6f499e339d2444b817a81ab2712b9e5.json"}}, {"family": "Dimitriou", "given": "Marios", "initials": "M", "orcid": "0000-0001-8362-2099", "researcher": {"href": "https://publications.scilifelab.se/researcher/531c153359bb400fb48c7324a3bd69ad.json"}}, {"family": "Chang", "given": "David", "initials": "D", "orcid": "0009-0005-2568-8467", "researcher": {"href": "https://publications.scilifelab.se/researcher/5eb57cd074fa415896ab899308c3b900.json"}}, {"family": "Olafsdottir", "given": "Svannildur", "initials": "S", "orcid": "0009-0002-6357-7029", "researcher": {"href": "https://publications.scilifelab.se/researcher/5c3191617de34dedb33c2514287aec37.json"}}, {"family": "Venckute Larsson", "given": "Sigita", "initials": "S", "orcid": "0009-0005-6187-0231", "researcher": {"href": "https://publications.scilifelab.se/researcher/080916982001432ab671d025ebb0cddc.json"}}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}}, {"family": "Malcovati", "given": "Luca", "initials": "L", "orcid": "0000-0002-1460-1611", "researcher": {"href": "https://publications.scilifelab.se/researcher/ac37858898774ff29209add33a79fd48.json"}}, {"family": "Woll", "given": "Petter", "initials": "P", "orcid": "0000-0002-2340-2526", "researcher": {"href": "https://publications.scilifelab.se/researcher/77ae0c1d2cf5461894c6d0d80ed42f68.json"}}, {"family": "Jacobsen", "given": "Sten Eirik W", "initials": "SEW", "orcid": "0000-0002-1362-3659", "researcher": {"href": "https://publications.scilifelab.se/researcher/648fc5e4f49e4330b095c26cd965cc98.json"}}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E", "orcid": "0000-0003-1709-8983", "researcher": {"href": "https://publications.scilifelab.se/researcher/2f67e7f1297e472c8f31639c02d28905.json"}}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E", "orcid": "0000-0002-7839-3743", "researcher": {"href": "https://publications.scilifelab.se/researcher/6bf8d52e24234fa8b348ad08f58d1d48.json"}}], "type": "journal article", "published": "2023-10-13", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "issn-l": "1078-0432", "volume": "29", "issue": "20", "pages": "4256-4267"}, "abstract": "Ring sideroblasts (RS) define the low-risk myelodysplastic neoplasm (MDS) subgroup with RS but may also reflect erythroid dysplasia in higher risk myeloid neoplasm. The benign behavior of MDS with RS (MDSRS+) is limited to SF3B1-mutated cases without additional high-risk genetic events, but one third of MDSRS+ carry no SF3B1 mutation, suggesting that different molecular mechanisms may underlie RS formation. We integrated genomic and transcriptomic analyses to evaluate whether transcriptome profiles may improve current risk stratification.\r\n\r\nWe studied a prospective cohort of MDSRS+ patients irrespective of World Health Organization (WHO) class with regard to somatic mutations, copy-number alterations, and bone marrow CD34+ cell transcriptomes to assess whether transcriptome profiles add to prognostication and provide input on disease classification.\r\n\r\nSF3B1, SRSF2, or TP53 multihit mutations were found in 89% of MDSRS+ cases, and each mutation category was associated with distinct clinical outcome, gene expression, and alternative splicing profiles. Unsupervised clustering analysis identified three clusters with distinct hemopoietic stem and progenitor (HSPC) composition, which only partially overlapped with mutation groups. IPSS-M and the transcriptome-defined proportion of megakaryocyte/erythroid progenitors (MEP) independently predicted survival in multivariable analysis.\r\n\r\nThese results provide essential input on the molecular basis of SF3B1-unmutated MDSRS+ and propose HSPC quantification as a prognostic marker in myeloid neoplasms with RS.", "doi": "10.1158/1078-0432.CCR-23-0538", "pmid": "37498312", "labels": {"Bioinformatics Support, Infrastructure and Training": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Bioinformatics (NBIS)": "Collaborative", "Bioinformatics Long-term Support WABI": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC10570683"}, {"db": "pii", "key": "728030"}], "notes": [], "created": "2023-11-22T11:16:24.579Z", "modified": "2025-11-28T19:52:07.783Z"}, {"entity": "publication", "iuid": "9f724da96e0345b6919d263fb50f54d0", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9f724da96e0345b6919d263fb50f54d0.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9f724da96e0345b6919d263fb50f54d0"}}, "title": "Limited benefit in patients with MDS receiving venetoclax and azacitidine as a bridge to allogeneic stem cell transplantation.", "authors": [{"family": "J\u00e4dersten", "given": "Martin", "initials": "M"}, {"family": "Boriskina", "given": "Ksenia", "initials": "K"}, {"family": "Lindholm", "given": "Carolin", "initials": "C"}, {"family": "Westr\u00f6m", "given": "Simone", "initials": "S"}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Hellstr\u00f6m-Lindberg", "given": "Eva", "initials": "E"}, {"family": "Mielke", "given": "Stephan", "initials": "S"}, {"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}}], "type": "letter", "published": "2021-11-15", "journal": {"title": "Leuk. Lymphoma", "issn": "1029-2403", "pages": "1-4", "issn-l": "1026-8022"}, "abstract": null, "doi": "10.1080/10428194.2021.2002319", "pmid": "34775885", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [], "notes": [], "created": "2021-12-06T08:29:19.584Z", "modified": "2021-12-06T08:29:19.616Z"}, {"entity": "publication", "iuid": "594a00afe45c46328b7df7fca7382dac", "links": {"self": {"href": "https://publications.scilifelab.se/publication/594a00afe45c46328b7df7fca7382dac.json"}, "display": {"href": "https://publications.scilifelab.se/publication/594a00afe45c46328b7df7fca7382dac"}}, "title": "Angioimmunoblastic T-cell lymphoma and myelodysplastic syndrome with mutations in TET2, DNMT3 and CUX1 - azacitidine induces only lymphoma remission.", "authors": [{"family": "Tobiasson", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3633-5852", "researcher": {"href": "https://publications.scilifelab.se/researcher/37b88e8e02af4145b95cc379c68ebee9.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Sander", "given": "Birgitta", "initials": "B"}, {"family": "Wahlin", "given": "Bj\u00f6rn Engelbrekt", "initials": "BE"}], "type": "case reports", "published": "2019-12-00", "journal": {"title": "Leuk. Lymphoma", "issn": "1029-2403", "volume": "60", "issue": "13", "pages": "3316-3319", "issn-l": "1026-8022"}, "abstract": null, "doi": "10.1080/10428194.2019.1627541", "pmid": "31204875", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [], "notes": [], "created": "2019-12-20T07:54:03.422Z", "modified": "2021-07-08T12:52:24.367Z"}]}