{"entity": "researcher", "timestamp": "2026-07-15T15:48:36.254Z", "family": "Eriksson", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "affiliations": ["Department of Medical Sciences, Uppsala University, Uppsala, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428"}}, "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": "c2b8ca52597945baa28d465e688f6a03", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c2b8ca52597945baa28d465e688f6a03.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c2b8ca52597945baa28d465e688f6a03"}}, "title": "A Drug Discovery Pipeline for MAPK/ERK Pathway Inhibitors in Caenorhabditis elegans.", "authors": [{"family": "Gorgo\u0144", "given": "Szymon", "initials": "S", "orcid": "0000-0002-4340-7316", "researcher": {"href": "https://publications.scilifelab.se/researcher/a450e4d8c0b54457b462679b2e217d96.json"}}, {"family": "Billing", "given": "Ola", "initials": "O", "orcid": "0000-0001-5824-6263", "researcher": {"href": "https://publications.scilifelab.se/researcher/0c9507722d964ce9a32a6cd3c6d80b2c.json"}}, {"family": "Eriksson", "given": "Anna U", "initials": "AU", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428.json"}}, {"family": "Hemmingsson", "given": "Oskar", "initials": "O", "orcid": "0000-0003-1732-168X", "researcher": {"href": "https://publications.scilifelab.se/researcher/33b77136c4d54877aa093c2b64f64489.json"}}], "type": "journal article", "published": "2024-09-01", "journal": {"title": "Cancer Res Commun", "issn": "2767-9764", "issn-l": null, "volume": "4", "issue": "9", "pages": "2454-2462"}, "abstract": "Oncogenic signaling through the MAPK/ERK pathway drives tumor progression in many cancers. Although targeted MAPK/ERK pathway inhibitors improve survival in selected patients, most tumors are resistant. New drugs could be identified in small-animal models that, unlike in vitro models, can address oral uptake, compound bioavailability, and toxicity. This requires pharmacologic conformity between human and model MAPK/ERK pathways and available phenotypic assays. In this study, we test if the conserved MAPK/ERK pathway in Caenorhabditis elegans could serve as a model for pharmacological inhibition and develop in vivo pipelines for high-throughput compound screens. Using fluorescence-based image analysis of vulva development as a readout for MAPK/ERK activity, we obtained excellent assay Z-scores for the MEK inhibitors trametinib (Z = 0.95), mirdametinib (Z = 0.93), and AZD8330 (Z = 0.87), as well as the ERK inhibitor temuterkib (Z = 0.86). The throughput was 800 wells per hour, with an average seed density of 25.5 animals per well. Readouts included drug efficacy, toxicity, and pathway specificity, which was tested against pathway activating upstream (lin-15)- and downstream (lin-1) mutants. To validate the model in a high-throughput setting, we screened a blinded library of 433 anticancer compounds and identified four MEK inhibitors among seven positive hits. Our results highlight a high degree of pharmacological conformity between C. elegans and human MAPK/ERK pathways, and the presented high-throughput pipeline may discover and characterize novel inhibitors in vivo.\r\n\r\nMany tumors depend on MAPK/ERK signaling to sustain growth, avoid cell death, and metastasize. We show that specific and clinically relevant MAPK/ERK signaling inhibitors can be discovered in vivo with a high-throughput screening pipeline in small animals.", "doi": "10.1158/2767-9764.CRC-24-0221", "pmid": "39212544", "labels": {"Chemical Biology Consortium Sweden": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC11409438"}, {"db": "pii", "key": "747452"}], "notes": [], "created": "2024-12-02T15:30:18.753Z", "modified": "2025-10-17T13:04:27.281Z"}, {"entity": "publication", "iuid": "6fac894c455046668ab3f18eed8a7f8d", "links": {"self": {"href": "https://publications.scilifelab.se/publication/6fac894c455046668ab3f18eed8a7f8d.json"}, "display": {"href": "https://publications.scilifelab.se/publication/6fac894c455046668ab3f18eed8a7f8d"}}, "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.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428.json"}}, {"family": "Engvall", "given": "Marie", "initials": "M", "orcid": "0000-0002-7394-9191", "researcher": {"href": "https://publications.scilifelab.se/researcher/0be7a9a5a518448ba7afb6f7a2cb3ca1.json"}}, {"family": "Mathot", "given": "Lucy", "initials": "L", "orcid": "0000-0002-2990-2038", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9f3bfe35ddf41e5beb4312d3408a7ea.json"}}, {"family": "\u00d6sterroos", "given": "Albin", "initials": "A", "orcid": "0000-0001-8749-7299", "researcher": {"href": "https://publications.scilifelab.se/researcher/47a3ea9e722b4c72a7f00a61b5c9fe0a.json"}}, {"family": "Rippin", "given": "Martin", "initials": "M", "orcid": "0000-0003-4362-0122", "researcher": {"href": "https://publications.scilifelab.se/researcher/9b30009265224c56b99e1afd024b5240.json"}}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Ladenvall", "given": "Claes", "initials": "C", "orcid": "0000-0002-7501-6598", "researcher": {"href": "https://publications.scilifelab.se/researcher/4c5c362dc308476195eb55d2e588ba60.json"}}, {"family": "Baliakas", "given": "Panagiotis", "initials": "P", "orcid": "0000-0002-5634-7156", "researcher": {"href": "https://publications.scilifelab.se/researcher/17370bd509dc4b1081af5aed9e5117c7.json"}}], "type": "research support, non-u.s. gov't", "published": "2023-08-01", "journal": {"title": "Clin. Cancer Res.", "issn": "1557-3265", "issn-l": "1078-0432", "volume": "29", "issue": "15", "pages": "2826-2834"}, "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": {"Clinical Genomics Uppsala": "Collaborative", "NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "725154"}], "notes": [], "created": "2023-11-29T08:28:02.202Z", "modified": "2024-01-16T13:48:32.633Z"}, {"entity": "publication", "iuid": "bc40489e55b44ff3a373a1f1785718d1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/bc40489e55b44ff3a373a1f1785718d1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/bc40489e55b44ff3a373a1f1785718d1"}}, "title": "Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children.", "authors": [{"family": "Stratmann", "given": "Svea", "initials": "S", "orcid": "0000-0002-7438-9093", "researcher": {"href": "https://publications.scilifelab.se/researcher/3927efe3aaf84399b26355d92c3a15cf.json"}}, {"family": "Vesterlund", "given": "Mattias", "initials": "M", "orcid": "0000-0001-9471-6592", "researcher": {"href": "https://publications.scilifelab.se/researcher/0942e438993b494db2a3db914852c808.json"}}, {"family": "Umer", "given": "Husen M", "initials": "HM", "orcid": "0000-0003-3971-2462", "researcher": {"href": "https://publications.scilifelab.se/researcher/db1b83fca3c740f7a20e8dc9f2a1331c.json"}}, {"family": "Eshtad", "given": "Saeed", "initials": "S"}, {"family": "Skaftason", "given": "Aron", "initials": "A"}, {"family": "Herlin", "given": "Morten Krogh", "initials": "MK", "orcid": "0000-0001-7179-4643", "researcher": {"href": "https://publications.scilifelab.se/researcher/fc2efb7b874d46879e3f34e3d7a1b8ef.json"}}, {"family": "Sundstr\u00f6m", "given": "Christer", "initials": "C", "orcid": "0000-0002-8160-5647", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfac750a70664f9986b3cc06334638cc.json"}}, {"family": "Eriksson", "given": "Anna", "initials": "A", "orcid": "0000-0002-8853-1863", "researcher": {"href": "https://publications.scilifelab.se/researcher/53cfc6bb334e455d9f64172ff43e3428.json"}}, {"family": "H\u00f6glund", "given": "Martin", "initials": "M"}, {"family": "Palle", "given": "Josefine", "initials": "J"}, {"family": "Abrahamsson", "given": "Jonas", "initials": "J"}, {"family": "Jahnukainen", "given": "Kirsi", "initials": "K", "orcid": "0000-0001-9296-2028", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec8cc2ae60a245e4807ce50c05273ded.json"}}, {"family": "Munthe-Kaas", "given": "Monica Cheng", "initials": "MC"}, {"family": "Zeller", "given": "Bernward", "initials": "B"}, {"family": "Tamm", "given": "Katja Pokrovskaja", "initials": "KP", "orcid": "0000-0001-6359-1256", "researcher": {"href": "https://publications.scilifelab.se/researcher/09ec3ee706764024bd748c7a77443845.json"}}, {"family": "Lindskog", "given": "Cecilia", "initials": "C"}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Lehti\u00f6", "given": "Janne", "initials": "J", "orcid": "0000-0002-8100-9562", "researcher": {"href": "https://publications.scilifelab.se/researcher/8406a97bac744a59b1bc951978994581.json"}}, {"family": "Holmfeldt", "given": "Linda", "initials": "L", "orcid": "0000-0003-4140-3423", "researcher": {"href": "https://publications.scilifelab.se/researcher/12b8b368e61e48d3b800516f006fbb7d.json"}}], "type": "journal article", "published": "2023-03-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "37", "issue": "3", "pages": "550-559", "issn-l": "0887-6924"}, "abstract": "Despite improvement of current treatment strategies and novel targeted drugs, relapse and treatment resistance largely determine the outcome for acute myeloid leukemia (AML) patients. To identify the underlying molecular characteristics, numerous studies have been aimed to decipher the genomic- and transcriptomic landscape of AML. Nevertheless, further molecular changes allowing malignant cells to escape treatment remain to be elucidated. Mass spectrometry is a powerful tool enabling detailed insights into proteomic changes that could explain AML relapse and resistance. Here, we investigated AML samples from 47 adult and 22 pediatric patients at serial time-points during disease progression using mass spectrometry-based in-depth proteomics. We show that the proteomic profile at relapse is enriched for mitochondrial ribosomal proteins and subunits of the respiratory chain complex, indicative of reprogrammed energy metabolism from diagnosis to relapse. Further, higher levels of granzymes and lower levels of the anti-inflammatory protein CR1/CD35 suggest an inflammatory signature promoting disease progression. Finally, through a proteogenomic approach, we detected novel peptides, which present a promising repertoire in the search for biomarkers and tumor-specific druggable targets. Altogether, this study highlights the importance of proteomic studies in holistic approaches to improve treatment and survival of AML patients.", "doi": "10.1038/s41375-022-01796-7", "pmid": "36572751", "labels": {"Global Proteomics and Proteogenomics": "Collaborative", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9991901"}, {"db": "pii", "key": "10.1038/s41375-022-01796-7"}], "notes": [], "created": "2023-06-07T14:15:49.018Z", "modified": "2024-01-16T13:48:33.897Z"}]}