{"entity": "researcher", "timestamp": "2026-08-20T20:52:57.582Z", "family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "affiliations": ["Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.", "Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb"}}, "publications": [{"entity": "publication", "iuid": "048922da2a384daa953047cd1a0fa998", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/048922da2a384daa953047cd1a0fa998.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/048922da2a384daa953047cd1a0fa998"}}, "title": "Clinical and transcriptomic characterization of patients with chronic lymphocytic leukemia harboring t(14;19): an ERIC study.", "authors": [{"family": "Visentin", "given": "Andrea", "initials": "A", "orcid": "0000-0003-0271-7200", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/10a25bb174034d55a6a2f0fccb036f02.json"}}, {"family": "Gaffo", "given": "Enrico", "initials": "E", "orcid": "0000-0001-6338-7677", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3a30412a5d86429d99d9ab62bf7be0b2.json"}}, {"family": "F\u00fcrstenau", "given": "Moritz", "initials": "M", "orcid": "0000-0002-6593-0140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f3c1950a80040ada1cda908470910c9.json"}}, {"family": "Rogers", "given": "Kerry A", "initials": "KA"}, {"family": "Panagiotis", "given": "Baliakas", "initials": "B", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Cui", "given": "Chenghua", "initials": "C"}, {"family": "Miller", "given": "Cecelia", "initials": "C", "orcid": "0000-0001-6110-6069", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a1123529d141447bafd9b556d5990544.json"}}, {"family": "Haferlach", "given": "Claudia", "initials": "C", "orcid": "0000-0002-6333-5049", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b317dae860d040cfa971ea54ed81558a.json"}}, {"family": "Plevova", "given": "Karla", "initials": "K", "orcid": "0000-0002-6148-8877", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a4174bc21ce468a90d6f7cba6688179.json"}}, {"family": "Oscier", "given": "David", "initials": "D", "orcid": "0000-0001-8486-2051", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/220096a970af4fcc99a358e4f0d6f239.json"}}, {"family": "Davis", "given": "Zadie", "initials": "Z", "orcid": "0000-0001-6959-4853", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b62e8caa4c348e1b0c9504ba6eb1221.json"}}, {"family": "Nguyen-Khac", "given": "Florence", "initials": "F"}, {"family": "Roncaglia", "given": "Eleonora", "initials": "E"}, {"family": "Rigolin", "given": "Gian Matteo", "initials": "GM", "orcid": "0000-0002-8370-5190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f66f2d62db5d49d2a7443f5e0b5d3eed.json"}}, {"family": "Athanasiadou", "given": "Anastasia", "initials": "A"}, {"family": "Baran-Marszak", "given": "Fanny", "initials": "F", "orcid": "0000-0002-3723-2927", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5491ee5f3a3f4e7fa082ea29a6f11383.json"}}, {"family": "Valiente", "given": "Alberto", "initials": "A"}, {"family": "Terol", "given": "Maria Jos\u00e9", "initials": "MJ"}, {"family": "Abrisqueta", "given": "Pau", "initials": "P"}, {"family": "Espinet", "given": "Blanca", "initials": "B", "orcid": "0000-0002-4294-8145", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b59addc668aa47be999e82efa5a6a9df.json"}}, {"family": "Puiggros", "given": "Anna", "initials": "A"}, {"family": "Martines", "given": "Annalisa", "initials": "A", "orcid": "0000-0002-4701-8457", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/46bc8f8fc7264a689ceec23d5131c5f3.json"}}, {"family": "Bonaldi", "given": "Laura", "initials": "L"}, {"family": "Mauro", "given": "Francesca Romana", "initials": "FR", "orcid": "0000-0003-2425-9474", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/588b17f8a7544766bdfcd763978dad5d.json"}}, {"family": "Scarf\u00f2", "given": "Lydia", "initials": "L", "orcid": "0000-0002-0844-0989", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7697d7b279ae48a387843c617f30fa3c.json"}}, {"family": "Chatzikonstantinou", "given": "Thomas", "initials": "T", "orcid": "0000-0003-4105-1253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a205228c1594457fbd55004721eb19c3.json"}}, {"family": "Tausch", "given": "Eugen", "initials": "E"}, {"family": "Kreuzer", "given": "Karl-Anton", "initials": "KA"}, {"family": "Kater", "given": "Arnon", "initials": "A", "orcid": "0000-0003-3190-1891", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bf8f235e28f2429dabfe12465a298e5b.json"}}, {"family": "Bosch", "given": "Francesc", "initials": "F"}, {"family": "Doubek", "given": "Michael", "initials": "M"}, {"family": "Panagiotidis", "given": "Panagiotis", "initials": "P"}, {"family": "Kalashnikova", "given": "Olga", "initials": "O", "orcid": "0000-0002-1856-1055", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e6e234bc02a543cfa5fe0aace31cca64.json"}}, {"family": "Frezzato", "given": "Federica", "initials": "F", "orcid": "0000-0001-7093-2493", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b62b4d97d5cf449d9682e8be5c145284.json"}}, {"family": "Calabretto", "given": "Giulia", "initials": "G"}, {"family": "Ruocco", "given": "Valeria", "initials": "V"}, {"family": "Orsi", "given": "Silvia", "initials": "S", "orcid": "0009-0009-8860-5875", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/43396caacda04fd295d0239acccb814e.json"}}, {"family": "Cellini", "given": "Alessandro", "initials": "A"}, {"family": "Angotzi", "given": "Francesco", "initials": "F"}, {"family": "Serafin", "given": "Andrea", "initials": "A"}, {"family": "Yi", "given": "Shuhua", "initials": "S", "orcid": "0000-0002-6291-812X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/035067b80e0e4efa9edf81ffa61c8e1c.json"}}, {"family": "Eichhorst", "given": "Barbara", "initials": "B"}, {"family": "Woyach", "given": "Jennifer A", "initials": "JA", "orcid": "0000-0002-3403-9144", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f223eed5e0dc4decad48346341db0f6b.json"}}, {"family": "Cuneo", "given": "Antonio", "initials": "A"}, {"family": "Ghia", "given": "Paolo", "initials": "P", "orcid": "0000-0003-3750-7342", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/475d35f1a3c446819b2f24be819c2dee.json"}}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K", "orcid": "0000-0001-8529-640X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06f6107d6f774ee6acb2c66ecfcb90cc.json"}}, {"family": "Trentin", "given": "Livio", "initials": "L", "orcid": "0000-0003-1222-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/820ab4c1a5534ada88d9c318fa8aa2e1.json"}}, {"family": "Bortoluzzi", "given": "Stefania", "initials": "S", "orcid": "0000-0001-8240-3070", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0831daa98b3b4ea980ccd20da78a22fb.json"}}], "type": "journal article", "published": "2025-12-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "39", "issue": "12", "pages": "2957-2967", "issn-l": "0887-6924"}, "abstract": "In chronic lymphocytic leukemia (CLL), the role of complex karyotype (CK) for prognostic stratification remains a topic of debate, and the impact of specific cytogenetic abnormalities is still unclear. This study aims to investigate the clinical and biological features of CLL with t(14;19)(q32;q13) (tCLL) involving the BCL3 gene. Patients with tCLL were younger and more commonly presented unmutated IGHV gene, subset #8 stereotypy, trisomy of chromosome 12, and complex karyotype than other patients without t(14;19) (oCLL). The presence of t(14;19) was associated with a shorter time to treatment and overall survival compared to oCLL. Gene expression analysis revealed a unique transcriptome profile in tCLL, characterized by the upregulation of BCL3 and the activation of B-cell receptor, PI3K-Akt. Conversely, apoptosis-related pathways were suppressed in tCLL. While the BTK gene was upregulated, the BCL2L11 gene, coding for the pro-apoptotic protein BIM, was downregulated. Notably, patients with tCLL were characterized by a trend (p = 0.058) for a longer time to the next treatment with BTK inhibitors (BTKi) compared to those treated with a venetoclax-based (Ven-based) regimen. We underscore the adverse outcomes of tCLL, its distinct molecular features and gene expression patterns. Therefore, our data suggest that identifying tCLL could help tailor therapeutic approaches.", "doi": "10.1038/s41375-025-02755-8", "pmid": "40973766", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12634426"}, {"db": "pii", "key": "10.1038/s41375-025-02755-8"}], "notes": [], "created": "2026-08-20T08:47:27.388Z", "modified": "2026-08-20T08:47:52.757Z"}, {"entity": "publication", "iuid": "117dc8c4dd9e42fdbee98c5830acd1e6", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/117dc8c4dd9e42fdbee98c5830acd1e6.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/117dc8c4dd9e42fdbee98c5830acd1e6"}}, "title": "The TP53 tumor suppressor gene: From molecular biology to clinical investigations.", "authors": [{"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Soussi", "given": "Thierry", "initials": "T", "orcid": "0000-0001-8184-3293", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe0e1f55362244f6a482f8a71c9ec943.json"}}], "type": "journal article", "published": "2025-08-00", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "volume": "298", "issue": "2", "pages": "78-96", "issn-l": "0954-6820"}, "abstract": "Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it. Initially, the functions of p53 were thought to be restricted to cell-cycle arrest and apoptosis. With time, however, a growing number of functions have been discovered, illustrating p53's role as a master switch between any cellular stress and cellular or multicellular responses that contribute to its anti-tumor activity. Indeed, the peculiar landscape of TP53 mutations and its high heterogeneity are linked both to the structure of the protein and its ubiquitous function in regulating cellular homeostasis. Mutations in p53 are associated with poor response to therapy and shorter survival in most cancer types, and the diagnosis of p53 mutations is currently used to improve case management in some types of leukemia and lymphoma. Although TP53 has been defined as a tumor suppressor gene, overexpressed mutated p53 variants found in human tumors are defined as dominant oncogenes with a potential gain of function, which makes the gene a very attractive target for developing new cancer treatments. Beyond its role in cancer, our review also highlights TP53's significance in non-neoplastic conditions, such as bone marrow failure syndromes and certain developmental disorders, where chronic p53 activation plays a crucial role in cellular stress responses, demonstrating its broader biological importance.", "doi": "10.1111/joim.20106", "pmid": "40524430", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC12239063"}], "notes": [], "created": "2026-08-20T11:18:39.005Z", "modified": "2026-08-20T11:18:39.075Z"}, {"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": "d3d52f092bfb4082b0dfacda385e43b2", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/d3d52f092bfb4082b0dfacda385e43b2"}}, "title": "Towards routine long-read sequencing for rare disease: a national pilot study on chromosomal rearrangements", "authors": [{"family": "Eisfeldt", "given": "Jesper", "initials": "J", "orcid": "0000-0003-3716-4917", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/83d05cbf798f4b48800dc89b57427cf2.json"}}, {"family": "Ameur", "given": "Adam", "initials": "A", "orcid": "0000-0001-6085-6749", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a8b8ce05cf7f49aeb3199b5938b9f160.json"}}, {"family": "Lenner", "given": "Felix", "initials": "F", "orcid": "0000-0002-9594-0710", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/068ae4ca5d0d42568778a63545296444.json"}}, {"family": "ten Berk de Boer", "given": "Esmee", "initials": "E"}, {"family": "Ek", "given": "Marlene", "initials": "M", "orcid": "0000-0001-6611-309X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8f0fa1d88ff54c23834851878f9e2b5d.json"}}, {"family": "Wincent", "given": "Josephine", "initials": "J"}, {"family": "Vaz", "given": "Raquel", "initials": "R"}, {"family": "Ottosson", "given": "Jesper", "initials": "J"}, {"family": "Jonsson", "given": "Tord", "initials": "T"}, {"family": "Ivarsson", "given": "Sofie E", "initials": "SE"}, {"family": "Thunstrom", "given": "Sofia", "initials": "S"}, {"family": "Topa", "given": "Alexandra", "initials": "A", "orcid": "0000-0002-7518-1294", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6b886b9e86f949b4864493543081dc0d.json"}}, {"family": "Stenberg", "given": "Simon", "initials": "S", "orcid": "0000-0003-0300-1730", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa8dd5aac01d40ce8cb718f1f3a0227b.json"}}, {"family": "Rohlin", "given": "Anna", "initials": "A"}, {"family": "Sandestig", "given": "Anna", "initials": "A"}, {"family": "Nordling", "given": "Margareta", "initials": "M"}, {"family": "Palmeb\u00e4ck", "given": "Pia", "initials": "P"}, {"family": "Burstedt", "given": "Magnus", "initials": "M"}, {"family": "Nordin", "given": "Frida", "initials": "F"}, {"family": "Stattin", "given": "Eva Lena", "initials": "EL"}, {"family": "Sobol", "given": "Maria", "initials": "M"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Bondeson", "given": "Marie Louise", "initials": "ML"}, {"family": "H\u00f6ijer", "given": "Ida", "initials": "I", "orcid": "0000-0002-3915-3384", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fa1a8d7500f147cb852a2e9c3e8617c5.json"}}, {"family": "Bilgrav Saether", "given": "Kristine", "initials": "K"}, {"family": "Lovmar", "given": "Lovisa", "initials": "L"}, {"family": "Ehrencrona", "given": "Hans", "initials": "H"}, {"family": "Melin", "given": "Malin", "initials": "M"}, {"family": "Feuk", "given": "Lars", "initials": "L", "orcid": "0000-0003-2355-2919", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fbdc6712238248f28392139dacb6df99.json"}}, {"family": "Lindstrand", "given": "Anna", "initials": "A", "orcid": "0000-0003-0806-5602", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3d28fb4cc61f4033b2ac525fed3d6b94.json"}}], "type": "posted-content", "published": "2023-12-17", "journal": {"issn-l": null}, "abstract": null, "doi": "10.1101/2023.12.15.23299892", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T10:51:02.037Z", "modified": "2026-08-20T10:51:02.309Z"}, {"entity": "publication", "iuid": "4dcc7aa2e98e41e5924199166195f148", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/4dcc7aa2e98e41e5924199166195f148.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/4dcc7aa2e98e41e5924199166195f148"}}, "title": "The evolving landscape of COVID-19 and post-COVID condition in patients with chronic lymphocytic leukemia: A study by ERIC, the European research initiative on CLL.", "authors": [{"family": "Visentin", "given": "Andrea", "initials": "A", "orcid": "0000-0003-0271-7200", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/10a25bb174034d55a6a2f0fccb036f02.json"}}, {"family": "Chatzikonstantinou", "given": "Thomas", "initials": "T", "orcid": "0000-0003-4105-1253", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a205228c1594457fbd55004721eb19c3.json"}}, {"family": "Scarf\u00f2", "given": "Lydia", "initials": "L", "orcid": "0000-0002-0844-0989", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7697d7b279ae48a387843c617f30fa3c.json"}}, {"family": "Kapetanakis", "given": "Anargyros", "initials": "A", "orcid": "0000-0002-5770-8654", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e6dabcfc8a904913a5f44441b30fb9cc.json"}}, {"family": "Demosthenous", "given": "Christos", "initials": "C", "orcid": "0000-0002-2008-7954", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/147aee2210fa4325bf08d88d92054a51.json"}}, {"family": "Karakatsoulis", "given": "Georgios", "initials": "G"}, {"family": "Minga", "given": "Eva", "initials": "E"}, {"family": "Chamou", "given": "Dimitra", "initials": "D"}, {"family": "Allsup", "given": "David", "initials": "D"}, {"family": "Cabrero", "given": "Alejandro Alonso", "initials": "AA"}, {"family": "Andres", "given": "Martin", "initials": "M"}, {"family": "Antic", "given": "Darko", "initials": "D", "orcid": "0000-0002-2608-1342", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/568b2b24d1d34de78087067a3472d972.json"}}, {"family": "Baile", "given": "M\u00f3nica", "initials": "M"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Besikli-Dimou", "given": "Sotiria", "initials": "S"}, {"family": "Bron", "given": "Dominique", "initials": "D"}, {"family": "Chatzileontiadou", "given": "Sofia", "initials": "S"}, {"family": "Cordoba", "given": "Raul", "initials": "R"}, {"family": "Correa", "given": "Juan-Gonzalo", "initials": "JG"}, {"family": "Cu\u00e9llar-Garc\u00eda", "given": "Carolina", "initials": "C"}, {"family": "De Paoli", "given": "Lorenzo", "initials": "L"}, {"family": "De Paolis", "given": "Maria Rosaria", "initials": "MR"}, {"family": "Delgado", "given": "Julio", "initials": "J", "orcid": "0000-0002-5157-4376", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c8bb41dc1fdf4709b6c193df84127af8.json"}}, {"family": "Dimou", "given": "Maria", "initials": "M"}, {"family": "Donaldson", "given": "David", "initials": "D"}, {"family": "Catherwood", "given": "Mark", "initials": "M"}, {"family": "Doubek", "given": "Michael", "initials": "M", "orcid": "0000-0002-1269-6282", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/69820fa805ac43ad892da50ac25d3e72.json"}}, {"family": "Efstathopoulou", "given": "Maria", "initials": "M"}, {"family": "Eichhorst", "given": "Barbara", "initials": "B"}, {"family": "Elashwah", "given": "Salma", "initials": "S", "orcid": "0000-0003-2919-9263", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f9f9bf912ec74de8b82f7e95543b76db.json"}}, {"family": "Enrico", "given": "Alicia", "initials": "A"}, {"family": "Espinet", "given": "Blanca", "initials": "B"}, {"family": "Farina", "given": "Lucia", "initials": "L"}, {"family": "Ferrari", "given": "Angela", "initials": "A"}, {"family": "Foglietta", "given": "Myriam", "initials": "M"}, {"family": "Frederiksen", "given": "Henrik", "initials": "H", "orcid": "0000-0001-8905-0220", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c755655ce9f14212902091a939c9dcd2.json"}}, {"family": "F\u00fcrstenau", "given": "Moritz", "initials": "M", "orcid": "0000-0002-6593-0140", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4f3c1950a80040ada1cda908470910c9.json"}}, {"family": "Garc\u00eda-Marco", "given": "Jos\u00e9 A", "initials": "JA"}, {"family": "Garc\u00eda-Serra", "given": "Roc\u00edo", "initials": "R", "orcid": "0000-0003-4857-1016", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e4633fa4a15949fea6f87c84535f9dbf.json"}}, {"family": "Collado", "given": "Rosa", "initials": "R"}, {"family": "Gentile", "given": "Massimo", "initials": "M"}, {"family": "Gimeno", "given": "Eva", "initials": "E"}, {"family": "Glenth\u00f8j", "given": "Andreas", "initials": "A"}, {"family": "da Silva", "given": "Maria Gomes", "initials": "MG"}, {"family": "Hakobyan", "given": "Yervand K", "initials": "YK"}, {"family": "Herishanu", "given": "Yair", "initials": "Y", "orcid": "0000-0002-7864-0089", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ff5f0d8adb354c97aa4111313d8e0c4d.json"}}, {"family": "Hern\u00e1ndez-Rivas", "given": "Jos\u00e9 \u00c1ngel", "initials": "J\u00c1"}, {"family": "Herold", "given": "Tobias", "initials": "T"}, {"family": "Innocenti", "given": "Idanna", "initials": "I"}, {"family": "Itchaki", "given": "Gilad", "initials": "G", "orcid": "0000-0002-9064-8139", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fe47be10b4974f009d02cdbdc91ea994.json"}}, {"family": "Jaksic", "given": "Ozren", "initials": "O", "orcid": "0000-0003-4026-285X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5df25bab82434e84a24a151f96bcce89.json"}}, {"family": "Janssens", "given": "Ann", "initials": "A"}, {"family": "Kalashnikova", "given": "\u041elga B", "initials": "\u041eB"}, {"family": "Kalici\u0144ska", "given": "El\u017cbieta", "initials": "E"}, {"family": "Kater", "given": "Arnon P", "initials": "AP"}, {"family": "Kersting", "given": "Sabina", "initials": "S"}, {"family": "Labrador", "given": "Jorge", "initials": "J"}, {"family": "Lad", "given": "Deepesh", "initials": "D"}, {"family": "Laurenti", "given": "Luca", "initials": "L", "orcid": "0000-0002-8327-1396", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/7fcfb3e2a0484138815e882c23078e3b.json"}}, {"family": "Levin", "given": "Mark-David", "initials": "MD"}, {"family": "Lista", "given": "Enrico", "initials": "E"}, {"family": "Lopez-Garcia", "given": "Alberto", "initials": "A"}, {"family": "Malerba", "given": "Lara", "initials": "L"}, {"family": "Marasca", "given": "Roberto", "initials": "R"}, {"family": "Marchetti", "given": "Monia", "initials": "M", "orcid": "0000-0001-7615-0572", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8e9ce74bf03b4418a59bfcf5d3d94e4f.json"}}, {"family": "Marquet", "given": "Juan", "initials": "J", "orcid": "0000-0002-8484-1442", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dfa76eedef5943a99d0fbac268becca8.json"}}, {"family": "Mattsson", "given": "Mattias", "initials": "M", "orcid": "0000-0002-9510-8801", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/eba3f305ff6a48499f8c7e652127b829.json"}}, {"family": "Mauro", "given": "Francesca R", "initials": "FR", "orcid": "0000-0003-2425-9474", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/588b17f8a7544766bdfcd763978dad5d.json"}}, {"family": "Morawska", "given": "Marta", "initials": "M"}, {"family": "Motta", "given": "Marina", "initials": "M"}, {"family": "Munir", "given": "Talha", "initials": "T", "orcid": "0000-0002-2901-0769", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0f0743683ec84edc8d29ad13c1f538ab.json"}}, {"family": "Murru", "given": "Roberta", "initials": "R"}, {"family": "Niemann", "given": "Carsten U", "initials": "CU"}, {"family": "Rodrigues", "given": "Raquel Nunes", "initials": "RN"}, {"family": "Olivieri", "given": "Jacopo", "initials": "J"}, {"family": "Orsucci", "given": "Lorella", "initials": "L"}, {"family": "Papaioannou", "given": "Maria", "initials": "M"}, {"family": "Pavlovsky", "given": "Miguel Arturo", "initials": "MA"}, {"family": "Piskunova", "given": "Inga", "initials": "I"}, {"family": "Popov", "given": "Viola Maria", "initials": "VM"}, {"family": "Quaglia", "given": "Francesca Maria", "initials": "FM"}, {"family": "Quaresmini", "given": "Giulia", "initials": "G"}, {"family": "Qvist", "given": "Kristian", "initials": "K"}, {"family": "Rigolin", "given": "Gian Matteo", "initials": "GM", "orcid": "0000-0002-8370-5190", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f66f2d62db5d49d2a7443f5e0b5d3eed.json"}}, {"family": "Ruchlemer", "given": "Rosa", "initials": "R", "orcid": "0000-0001-8349-0794", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a7080290ab374d69a3c85484bb71bd11.json"}}, {"family": "\u0160imkovi\u010d", "given": "Martin", "initials": "M"}, {"family": "\u0160pa\u010dek", "given": "Martin", "initials": "M"}, {"family": "Sportoletti", "given": "Paolo", "initials": "P", "orcid": "0000-0002-5630-9862", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c6ab8837a35443f0a3ef319ca9b4f683.json"}}, {"family": "Stanca", "given": "Oana", "initials": "O"}, {"family": "Tadmor", "given": "Tamar", "initials": "T", "orcid": "0000-0002-3435-8612", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0ce4288f837e475e8ad1ea911d78fa4c.json"}}, {"family": "Capasso", "given": "Antonella", "initials": "A"}, {"family": "Del Poeta", "given": "Giovanni", "initials": "G"}, {"family": "Gutwein", "given": "Odit", "initials": "O"}, {"family": "Karlsson", "given": "Linda Katharina", "initials": "LK"}, {"family": "Milosevic", "given": "Ivana", "initials": "I"}, {"family": "Mir\u00e1s", "given": "Fatima", "initials": "F"}, {"family": "Reda", "given": "Gianluigi", "initials": "G", "orcid": "0000-0003-4687-7089", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cc2be38bcf024aa4a06c571c1ed7ffcf.json"}}, {"family": "Saghumyan", "given": "Gevorg", "initials": "G"}, {"family": "Shrestha", "given": "Amit", "initials": "A"}, {"family": "Te Raa", "given": "Doreen", "initials": "D"}, {"family": "Tonino", "given": "Sanne H", "initials": "SH"}, {"family": "Van Der Spek", "given": "Ellen", "initials": "E"}, {"family": "van Gelder", "given": "Michel", "initials": "M"}, {"family": "van Kampen", "given": "Roel", "initials": "R"}, {"family": "Wasik-Szczepanek", "given": "Ewa", "initials": "E"}, {"family": "Wr\u00f3bel", "given": "Tomasz", "initials": "T"}, {"family": "Segundo", "given": "Lucrecia Y\u00e1\u00f1ez San", "initials": "LYS"}, {"family": "Yassin", "given": "Mohamed", "initials": "M", "orcid": "0000-0002-1144-8076", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/40a808948be848ed8c749a1d3b842b56.json"}}, {"family": "Pocali", "given": "Barbara", "initials": "B"}, {"family": "Vandenberghe", "given": "Elisabeth", "initials": "E"}, {"family": "Iyengar", "given": "Sunil", "initials": "S"}, {"family": "Varettoni", "given": "Marzia", "initials": "M", "orcid": "0000-0001-7304-1629", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/399b2772fab646c38c128e7d14eca17b.json"}}, {"family": "Vitale", "given": "Candida", "initials": "C"}, {"family": "Coscia", "given": "Marta", "initials": "M"}, {"family": "Rambaldi", "given": "Alessandro", "initials": "A"}, {"family": "Montserrat", "given": "Emili", "initials": "E"}, {"family": "Cuneo", "given": "Antonio", "initials": "A"}, {"family": "Stavroyianni", "given": "Niki", "initials": "N"}, {"family": "Trentin", "given": "Livio", "initials": "L", "orcid": "0000-0003-1222-6149", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/820ab4c1a5534ada88d9c318fa8aa2e1.json"}}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K", "orcid": "0000-0001-8529-640X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06f6107d6f774ee6acb2c66ecfcb90cc.json"}}, {"family": "Ghia", "given": "Paolo", "initials": "P", "orcid": "0000-0003-3750-7342", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/475d35f1a3c446819b2f24be819c2dee.json"}}], "type": "multicenter study", "published": "2023-12-00", "journal": {"title": "Am. J. Hematol.", "issn": "1096-8652", "volume": "98", "issue": "12", "pages": "1856-1868", "issn-l": "0361-8609"}, "abstract": "In this retrospective international multicenter study, we describe the clinical characteristics and outcomes of patients with chronic lymphocytic leukemia (CLL) and related disorders (small lymphocytic lymphoma and high-count monoclonal B lymphocytosis) infected by SARS-CoV-2, including the development of post-COVID condition. Data from 1540 patients with CLL infected by SARS-CoV-2 from January 2020 to May 2022 were included in the analysis and assigned to four phases based on cases disposition and SARS-CoV-2 variants emergence. Post-COVID condition was defined according to the WHO criteria. Patients infected during the most recent phases of the pandemic, though carrying a higher comorbidity burden, were less often hospitalized, rarely needed intensive care unit admission, or died compared to patients infected during the initial phases. The 4-month overall survival (OS) improved through the phases, from 68% to 83%, p = .0015. Age, comorbidity, CLL-directed treatment, but not vaccination status, emerged as risk factors for mortality. Among survivors, 6.65% patients had a reinfection, usually milder than the initial one, and 16.5% developed post-COVID condition. The latter was characterized by fatigue, dyspnea, lasting cough, and impaired concentration. Infection severity was the only risk factor for developing post-COVID. The median time to resolution of the post-COVID condition was 4.7 months. OS in patients with CLL improved during the different phases of the pandemic, likely due to the improvement of prophylactic and therapeutic measures against SARS-CoV-2 as well as the emergence of milder variants. However, mortality remained relevant and a significant number of patients developed post-COVID conditions, warranting further investigations.", "doi": "10.1002/ajh.27093", "pmid": "37772428", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T06:28:29.653Z", "modified": "2026-08-20T06:28:31.016Z"}, {"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"}, {"entity": "publication", "iuid": "79d59f717d5548cc8a84a72ee4769a2b", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/79d59f717d5548cc8a84a72ee4769a2b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/79d59f717d5548cc8a84a72ee4769a2b"}}, "title": "International validation of the EORTC QLQ-CLL17 questionnaire for assessment of health-related quality of life for patients with chronic lymphocytic leukaemia.", "authors": [{"family": "Oerlemans", "given": "Simone", "initials": "S", "orcid": "0000-0003-1595-7262", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/98d817fc69e94c6393c9f46274a4813c.json"}}, {"family": "Efficace", "given": "Fabio", "initials": "F"}, {"family": "Kieffer", "given": "Jacobien M", "initials": "JM"}, {"family": "Kyriakou", "given": "Charalampia", "initials": "C"}, {"family": "Xochelli", "given": "Aliki", "initials": "A"}, {"family": "Levedahl", "given": "Kerstin", "initials": "K"}, {"family": "Petranovic", "given": "Duska", "initials": "D"}, {"family": "Borges", "given": "Fabio Cardoso", "initials": "FC"}, {"family": "Bredart", "given": "Anne", "initials": "A"}, {"family": "Shamieh", "given": "Omar", "initials": "O"}, {"family": "Gziskevicius", "given": "Laimonas", "initials": "L"}, {"family": "Lehmann", "given": "Jens", "initials": "J"}, {"family": "Scholz", "given": "Christian W", "initials": "CW"}, {"family": "Caocci", "given": "Giovanni", "initials": "G"}, {"family": "Molica", "given": "Stefano", "initials": "S", "orcid": "0000-0003-2795-6507", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ffe2cfef83f84259af220c74eeac4fde.json"}}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K"}, {"family": "Panteliadou", "given": "Alkistis-Kyra", "initials": "AK"}, {"family": "Papaioannou", "given": "Maria", "initials": "M"}, {"family": "Alrjoob", "given": "Waleed", "initials": "W"}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R"}, {"family": "Malak", "given": "Sandra", "initials": "S"}, {"family": "Miranda", "given": "Ana", "initials": "A"}, {"family": "Cocks", "given": "Kim", "initials": "K"}, {"family": "van de Poll-Franse", "given": "Lonneke", "initials": "L"}, {"family": "EORTC Quality of Life\u00a0Group", "given": "", "initials": ""}], "type": "journal article", "published": "2022-05-00", "journal": {"title": "Br. J. Haematol.", "issn": "1365-2141", "volume": "197", "issue": "4", "pages": "431-441", "issn-l": "0007-1048"}, "abstract": "Selecting the most appropriate chronic lymphocytic leukaemia (CLL) treatment is challenging. Patient-reported health-related quality of life (HRQoL) is therefore a critical aspect to consider. This international study by the European Organization for Research and Treatment of Cancer (EORTC) tested the psychometric properties of a newly developed measure for CLL patients: the EORTC QLQ-CLL17 to supplement the core questionnaire (EORTC QLQ-C30). Patients with CLL (n = 341) from 12 countries completed the QLQ-C30, QLQ-CLL17 and a debriefing questionnaire. Sociodemographic and clinical data were recorded from medical records. A high percentage (30%-66%) reported symptoms and/or worries (e.g. aches/pains in muscles, lack of energy and worry/fears about health). Confirmatory factor analysis showed an acceptable to good fit of the 17 items on the three scales (i.e. symptom burden, physical condition/fatigue and worries/fears about health and functioning). Completion took on average 8 min. Test-retest and convergent validity was demonstrated. The QLQ-CLL17 differentiated between patients with an Eastern Cooperative Oncology group (ECOG) performance of 0 versus 1-3 (p's < 0.01 and clinically relevant). The newly developed EORTC QLQ-CLL17 will increase sensitivity of HRQoL assessment in patients with CLL. Implementation of this questionnaire both in clinical research and practice will help to generate unique clinically relevant data to better inform CLL treatment decision-making.", "doi": "10.1111/bjh.18072", "pmid": "35255152", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T11:17:21.748Z", "modified": "2026-08-20T11:17:21.893Z"}, {"entity": "publication", "iuid": "6a4f328452e8497b941d82419c56bd6f", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6a4f328452e8497b941d82419c56bd6f.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6a4f328452e8497b941d82419c56bd6f"}}, "title": "Early response evaluation by single cell signaling profiling in acute myeloid leukemia", "authors": [{"family": "Tislevoll", "given": "Benedicte", "initials": "B", "orcid": "0000-0003-4962-997X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/af301fcc03e04fee927f4e3dfdb6f306.json"}}, {"family": "Helles\u00f8y", "given": "Monica", "initials": "M"}, {"family": "Fagerholt", "given": "Oda", "initials": "O"}, {"family": "Gullaksen", "given": "Stein Erik", "initials": "SE"}, {"family": "Srivast", "given": "Aashish", "initials": "A", "orcid": "0000-0003-0532-3979", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c0d5e9491f2a45c4bdab026c75952543.json"}}, {"family": "Birkeland", "given": "Even", "initials": "E"}, {"family": "Kleftogiannis", "given": "Dimitrios", "initials": "D"}, {"family": "Ayuda-Dur\u00e1n", "given": "Pilar", "initials": "P"}, {"family": "Piechaczyk", "given": "Laure", "initials": "L"}, {"family": "Tadele", "given": "Dagim", "initials": "D"}, {"family": "Skavland", "given": "J\u00f8rn", "initials": "J"}, {"family": "Panagiotis", "given": "Baliakas", "initials": "B", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "Hovland", "given": "Randi", "initials": "R"}, {"family": "Andresen", "given": "Vibeke", "initials": "V"}, {"family": "Aghaeepour", "given": "Nima", "initials": "N", "orcid": "0000-0002-6117-8764", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6543bf6b62bc4ce09e63a3084d4dd8fc.json"}}, {"family": "Gavasso", "given": "Sonia", "initials": "S"}, {"family": "Porkka", "given": "Kimmo", "initials": "K"}, {"family": "Jonassen", "given": "Inge", "initials": "I", "orcid": "0000-0003-4110-0748", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/9e0d9aacc4404573b3a0fae9aaa0613c.json"}}, {"family": "Enserink", "given": "Jorrit", "initials": "J"}, {"family": "Fl\u00f8isand", "given": "Yngvar", "initials": "Y", "orcid": "0000-0001-7267-1944", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1d0cd455ed7e41a39a2146a64a403d66.json"}}, {"family": "Blaser", "given": "Nello", "initials": "N", "orcid": "0000-0001-9489-1657", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f98ea8bec56a4f97be30aba956d54f3b.json"}}, {"family": "Gjertsen", "given": "Bj\u00f6rn Tore", "initials": "BT", "orcid": "0000-0001-9358-9704", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/75dad61796ac46c781ba94ddd70a7ff1.json"}}], "type": "posted-content", "published": "2022-02-22", "journal": {"issn-l": null}, "abstract": null, "doi": "10.21203/rs.3.rs-1335315/v1", "pmid": null, "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T12:58:11.955Z", "modified": "2026-08-20T12:58:12.291Z"}, {"entity": "publication", "iuid": "7fa72c8ba02542fba63c8278125529ef", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/7fa72c8ba02542fba63c8278125529ef.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/7fa72c8ba02542fba63c8278125529ef"}}, "title": "Refractory chronic \"ITP\": When platelet size matters.", "authors": [{"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a31997db1ee4ef1aaff75e423b8ccfb.json"}}, {"family": "K\u00e4ttstr\u00f6m", "given": "Magdalena", "initials": "M"}, {"family": "Rossing", "given": "Maria", "initials": "M"}, {"family": "Amini", "given": "Rose-Marie", "initials": "RM"}], "type": "case reports", "published": "2018-09-00", "journal": {"title": "Clin Case Rep", "issn": "2050-0904", "volume": "6", "issue": "9", "pages": "1779-1780", "issn-l": null}, "abstract": "Inherited conditions associated with thrombocytopenia should be included in the differential diagnosis of young patients with refractory immune thrombocytopenia (ITP), even in the absence of a positive family history. Early identification of such conditions is of vital importance in order to reach the right diagnosis and avoid unnecessary or even harmful medication.", "doi": "10.1002/ccr3.1711", "pmid": "30214762", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC6132098"}, {"db": "pii", "key": "CCR31711"}], "notes": [], "created": "2026-08-20T06:30:59.320Z", "modified": "2026-08-20T06:30:59.375Z"}]}