{"entity": "researcher", "timestamp": "2026-08-20T20:32:15.875Z", "family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "affiliations": ["Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb"}}, "publications": [{"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": "90a7c6fc6eec4e15a7dd35e4ddc0754b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/90a7c6fc6eec4e15a7dd35e4ddc0754b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/90a7c6fc6eec4e15a7dd35e4ddc0754b"}}, "title": "Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.", "authors": [{"family": "Eriksson", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d37bf77253344a92968b4adb46c6f98c.json"}}, {"family": "Engvall", "given": "Marie", "initials": "M", "orcid": "0000-0002-7394-9191", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6107a9ca9ba842be9054a00c747b47a8.json"}}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/458c07a1748d4ce0ac5cff3d6836f350.json"}}, {"family": "\u00d6sterroos", "given": "Albin", "initials": "A", "orcid": "0000-0001-8749-7299", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aafab8cd17e94d52a3cdeaf86d3acfa6.json"}}, {"family": "Rippin", "given": "Martin", "initials": "M", "orcid": "0000-0003-4362-0122", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06ef473951064c39ba0fbe0184244323.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa2064616ff6495cb32d646823f0f8fc.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1cfe5cbb5d454552bdcbc464238f88fb.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}], "type": "research support, non-u.s. gov't", "published": "2023-08-01", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "volume": "29", "issue": "15", "pages": "2826-2834", "issn-l": "1078-0432"}, "abstract": "In acute myeloid leukemia (AML), somatic mutations (commonly missense, nonsense, and frameshift indels) in RUNX1 are associated with a dismal clinical outcome. Inherited RUNX1 mutations cause familial platelet disorder. As approximately 5%-10% of germline RUNX1 mutations are large exonic deletions, we hypothesized that such exonic RUNX1 aberrations may also be acquired during the development of AML.\n\nSixty patients with well-characterized AML were analyzed with multiplex ligation-dependent probe amplification (n = 60), microarray (n = 11), and/or whole-genome sequencing (n = 8).\n\nIn total, 25 (42% of the cohort) RUNX1-aberrant patients (defined by the presence of classical mutations and/or exonic deletions) were identified. Sixteen patients (27%) carried only exonic deletions, 5 (8%) carried classical mutations, and 4 (7%) carried both exonic deletions and mutations. No significant difference was observed between patients with classical RUNX1 mutations and RUNX1 exonic deletions in median overall survival (OS, 53.1 vs. 38.8 months, respectively, P = 0.63). When applying the European Leukemia Net (ELN) classification including the RUNX1-aberrant group, 20% of the patients initially stratified as intermediate-risk (5% of the whole cohort) were reassigned to the high-risk group, which improved the performance of ELN classification regarding OS between intermediate- and high-risk groups (18.9 vs. 9.6 months, P = 0.09).\n\nSomatic RUNX1 exonic deletions constitute a novel recurrent aberration in AML. Our findings have important clinical implications regarding AML classification, risk stratification, and treatment decision. Moreover, they argue in favor of further investigating such genomic aberrations not only in RUNX1 but also in other genes implicated in cancer biology and management. See related commentary by Chakraborty and Stengel, p. 2742.", "doi": "10.1158/1078-0432.CCR-23-0122", "pmid": "37022349", "labels": [], "xrefs": [{"db": "pii", "key": "725154"}], "notes": [], "created": "2026-08-20T12:12:14.173Z", "modified": "2026-08-20T12:12:14.475Z"}]}