{"entity": "researcher", "timestamp": "2026-08-20T20:45:26.175Z", "family": "Ungerstedt", "given": "Johanna", "initials": "J", "orcid": "0000-0002-0202-7296", "affiliations": ["HERM, Department of Medicine, Karolinska Institutet, Stockholm, Sweden.", "Department of Biomedical and Clinical Sciences, Link\u00f6ping University, Link\u00f6ping, Sweden.", "Hematology Clinic, Link\u00f6ping University Hospital, Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2ca02a25d0d414bb4ec81978ec50083.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2ca02a25d0d414bb4ec81978ec50083"}}, "publications": [{"entity": "publication", "iuid": "6d07a25ae14a4f4ba37465eb4a893905", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6d07a25ae14a4f4ba37465eb4a893905.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6d07a25ae14a4f4ba37465eb4a893905"}}, "title": "Comorbidities and mutations including single- and multihit TET2 mutations in relation to outcome in chronic myelomonocytic leukaemia-A population-based study.", "authors": [{"family": "Kynning", "given": "Matilda Kjellander", "initials": "MK"}, {"family": "Westerberg", "given": "Ebba", "initials": "E"}, {"family": "Forsell", "given": "Linda", "initials": "L"}, {"family": "Creignou", "given": "Maria", "initials": "M"}, {"family": "Berggren", "given": "Daniel Moreno", "initials": "DM"}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Bernard", "given": "Elsa", "initials": "E"}, {"family": "Papaemmanuil", "given": "Elli", "initials": "E"}, {"family": "Nannya", "given": "Yasuhito", "initials": "Y"}, {"family": "Franco", "given": "Lucia Cavelier", "initials": "LC"}, {"family": "Valentini", "given": "Davide", "initials": "D"}, {"family": "Lindberg", "given": "Eva Hellstr\u00f6m", "initials": "EH"}, {"family": "Ogawa", "given": "Seishi", "initials": "S"}, {"family": "Ejerblad", "given": "Elisabeth", "initials": "E"}, {"family": "Ungerstedt", "given": "Johanna", "initials": "J", "orcid": "0000-0002-0202-7296", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f2ca02a25d0d414bb4ec81978ec50083.json"}}], "type": "journal article", "published": "2026-02-00", "journal": {"title": "Br. J. Haematol.", "issn": "1365-2141", "volume": "208", "issue": "2", "pages": "514-523", "issn-l": "0007-1048"}, "abstract": "To explore the relation between disease characteristics, comorbidities, mutations and overall survival (OS) in chronic myelomonocytic leukaemia (CMML), we collected data from a population-based cohort of 149 consecutive patients. TET2 mutation (TET2MT) was associated with higher haemoglobin, less leucocytosis and longer OS compared to no TET2MT (TET2WT), despite patients being significantly older. Patients with multihit TET2MT had the most favourable outcome (HR 0.55, CI 0.35-0.88, p < 0.05). Multihit TET2MT was associated with lower lactate dehydrogenase and less monocytosis, indicating multihit TET2MT as a separate disease entity. Autoimmune disease (AID) was present in 33.6% of patients, with no association to any mutations. In multivariable analysis, the number of TET2MT was demonstrated to be an independent factor associated with improved OS, and RUNX1MT, myeloproliferative CMML (CMML-MP), ECOG >0 and transfusion dependence remained significant adverse factors. Internal validation including cross-validation and correction for optimism consistently demonstrated that a prognostic model containing the number of TET2MT, RUNX1, CMML-MP, ECOG >0 and transfusion dependence showed better calibration, discrimination and overall performance than CPSS-Mol in predicting OS. Importantly, the addition of TET2 mutation status to CPSS-Mol also improved the CPSS-Mol score performance. Taken together, TET2MT status, especially multihit TET2MT, defines a specific CMML phenotype and should be considered in future prognostic scores.", "doi": "10.1111/bjh.70264", "pmid": "41287892", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12916187"}], "notes": [], "created": "2026-08-20T11:17:23.579Z", "modified": "2026-08-20T11:17:23.656Z"}, {"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"}]}