{"entity": "researcher", "timestamp": "2026-08-20T21:26:35.235Z", "family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "affiliations": ["Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.", "Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179"}}, "publications": [{"entity": "publication", "iuid": "62fb0d8b4545455caed956d5d745f5e5", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/62fb0d8b4545455caed956d5d745f5e5.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/62fb0d8b4545455caed956d5d745f5e5"}}, "title": "High-throughput molecular assays for inclusion in personalised oncology trials - State-of-the-art and beyond.", "authors": [{"family": "Edsj\u00f6", "given": "Anders", "initials": "A"}, {"family": "Russnes", "given": "Hege G", "initials": "HG"}, {"family": "Lehti\u00f6", "given": "Janne", "initials": "J"}, {"family": "Tamborero", "given": "David", "initials": "D"}, {"family": "Hovig", "given": "Eivind", "initials": "E"}, {"family": "Stenzinger", "given": "Albrecht", "initials": "A", "orcid": "0000-0003-1001-103X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/61fd926c15034b789575bde0f0a1902c.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}}, {"family": "PCM4EU consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2024-06-00", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "volume": "295", "issue": "6", "pages": "785-803", "issn-l": "0954-6820"}, "abstract": "In the last decades, the development of high-throughput molecular assays has revolutionised cancer diagnostics, paving the way for the concept of personalised cancer medicine. This progress has been driven by the introduction of such technologies through biomarker-driven oncology trials. In this review, strengths and limitations of various state-of-the-art sequencing technologies, including gene panel sequencing (DNA and RNA), whole-exome/whole-genome sequencing and whole-transcriptome sequencing, are explored, focusing on their ability to identify clinically relevant biomarkers with diagnostic, prognostic and/or predictive impact. This includes the need to assess complex biomarkers, for example microsatellite instability, tumour mutation burden and homologous recombination deficiency, to identify patients suitable for specific therapies, including immunotherapy. Furthermore, the crucial role of biomarker analysis and multidisciplinary molecular tumour boards in selecting patients for trial inclusion is discussed in relation to various trial concepts, including drug repurposing. Recognising that today's exploratory techniques will evolve into tomorrow's routine diagnostics and clinical study inclusion assays, the importance of emerging technologies for multimodal diagnostics, such as proteomics and in vivo drug sensitivity testing, is also discussed. In addition, key regulatory aspects and the importance of patient engagement in all phases of a clinical trial are described. Finally, we propose a set of recommendations for consideration when planning a new precision cancer medicine trial.", "doi": "10.1111/joim.13785", "pmid": "38698538", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T11:18:36.990Z", "modified": "2026-08-20T11:18:37.097Z"}, {"entity": "publication", "iuid": "6fe0389632174803a817164298b6a552", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/6fe0389632174803a817164298b6a552.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/6fe0389632174803a817164298b6a552"}}, "title": "Novel precision medicine approaches and treatment strategies in hematological malignancies.", "authors": [{"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}}, {"family": "Bernard", "given": "Elsa", "initials": "E", "orcid": "0000-0002-2057-7187", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cb3c2a92df6647f6ab8d6376d341cb35.json"}}, {"family": "Erkers", "given": "Tom", "initials": "T"}, {"family": "Scott", "given": "David W", "initials": "DW"}, {"family": "Itzykson", "given": "Raphael", "initials": "R"}, {"family": "Rousselot", "given": "Philippe", "initials": "P"}, {"family": "Soulier", "given": "Jean", "initials": "J"}, {"family": "Hutchings", "given": "Martin", "initials": "M"}, {"family": "\u00d6stling", "given": "P\u00e4ivi", "initials": "P"}, {"family": "Cavelier", "given": "Lucia", "initials": "L"}, {"family": "Fioretos", "given": "Thoas", "initials": "T"}, {"family": "Smedby", "given": "Karin E", "initials": "KE", "orcid": "0000-0002-2104-3320", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/17cbe094697643c29fb92fb58a1443a2.json"}}], "type": "journal article", "published": "2023-10-00", "journal": {"title": "J. Intern. Med.", "issn": "1365-2796", "volume": "294", "issue": "4", "pages": "413-436", "issn-l": "0954-6820"}, "abstract": "Genetic testing has been applied for decades in clinical routine diagnostics of hematological malignancies to improve disease (sub)classification, prognostication, patient management, and survival. In recent classifications of hematological malignancies, disease subtypes are defined by key recurrent genetic alterations detected by conventional methods (i.e., cytogenetics, fluorescence in situ hybridization, and targeted sequencing). Hematological malignancies were also one of the first disease areas in which targeted therapies were introduced, the prime example being BCR::ABL1 inhibitors, followed by an increasing number of targeted inhibitors hitting the Achilles' heel of each disease, resulting in a clear patient benefit. Owing to the technical advances in high-throughput sequencing, we can now apply broad genomic tests, including comprehensive gene panels or whole-genome and whole-transcriptome sequencing, to identify clinically important diagnostic, prognostic, and predictive markers. In this review, we give examples of how precision diagnostics has been implemented to guide treatment selection and improve survival in myeloid (myelodysplastic syndromes and acute myeloid leukemia) and lymphoid malignancies (acute lymphoblastic leukemia, diffuse large B-cell lymphoma, and chronic lymphocytic leukemia). We discuss the relevance and potential of monitoring measurable residual disease using ultra-sensitive techniques to assess therapy response and detect early relapses. Finally, we bring up the promising avenue of functional precision medicine, combining ex vivo drug screening with various omics technologies, to provide novel treatment options for patients with advanced disease. Although we are only in the beginning of the field of precision hematology, we foresee rapid development with new types of diagnostics and treatment strategies becoming available to the benefit of our patients.", "doi": "10.1111/joim.13697", "pmid": "37424223", "labels": [], "xrefs": [], "notes": [], "created": "2026-08-20T11:18:34.707Z", "modified": "2026-08-20T11:18:34.827Z"}, {"entity": "publication", "iuid": "afa87c9d58584b1caa68e7eac3b20e44", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/afa87c9d58584b1caa68e7eac3b20e44.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/afa87c9d58584b1caa68e7eac3b20e44"}}, "title": "Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer.", "authors": [{"family": "Wadensten", "given": "Elisabeth", "initials": "E"}, {"family": "Wessman", "given": "Sandra", "initials": "S", "orcid": "0000-0002-2035-2092", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d95567cab7404bdda2b61558c00ec446.json"}}, {"family": "Abel", "given": "Frida", "initials": "F", "orcid": "0000-0001-6958-4487", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/daddf59b269246e7aa22b214f4d8ddcd.json"}}, {"family": "Diaz De St\u00e5hl", "given": "Teresita", "initials": "T", "orcid": "0000-0001-5933-6623", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1f642682a7cb4d648ecc3fa016e7569d.json"}}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Orsmark Pietras", "given": "Christina", "initials": "C"}, {"family": "Arvidsson", "given": "Linda", "initials": "L"}, {"family": "Taylan", "given": "Fulya", "initials": "F", "orcid": "0000-0002-2907-0235", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/fc9bc4b87d0f43b9a0528e936921e5ae.json"}}, {"family": "Fransson", "given": "Susanne", "initials": "S", "orcid": "0000-0002-9713-3074", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bd0dd92b148e4ec5aa0577e5c72cf912.json"}}, {"family": "Vogt", "given": "Hartmut", "initials": "H", "orcid": "0000-0001-6009-7789", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/06785b3196a54727ba196337e3c30e95.json"}}, {"family": "Poluha", "given": "Anna", "initials": "A", "orcid": "0000-0002-4716-9423", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/39d693db32f545588e14bc02d3a8549e.json"}}, {"family": "Pradhananga", "given": "Sailendra", "initials": "S"}, {"family": "Hellberg", "given": "Maria", "initials": "M"}, {"family": "Lagerstedt-Robinson", "given": "Kristina", "initials": "K"}, {"family": "Raj Somarajan", "given": "Praveen", "initials": "P", "orcid": "0009-0005-5981-2286", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/828d59fa698842e5a15445ea305ff31b.json"}}, {"family": "Samuelsson", "given": "Sofie", "initials": "S"}, {"family": "Orrsj\u00f6", "given": "Sara", "initials": "S", "orcid": "0009-0008-9223-3923", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f0601b0c65ba4f24877ef146d0ceeffe.json"}}, {"family": "Maqbool", "given": "Khurram", "initials": "K", "orcid": "0000-0003-2981-2582", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/ae3c7cd13b74462da918d013a96c7e3f.json"}}, {"family": "Henning", "given": "Karin", "initials": "K"}, {"family": "Strid", "given": "Tobias", "initials": "T"}, {"family": "Ek", "given": "Torben", "initials": "T", "orcid": "0000-0002-0518-983X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/850c29cc84154b34a326b6c6d8972441.json"}}, {"family": "Fagman", "given": "Henrik", "initials": "H"}, {"family": "Olsson Bontell", "given": "Thomas", "initials": "T"}, {"family": "Martinsson", "given": "Tommy", "initials": "T", "orcid": "0000-0002-9403-3123", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b0a7ec78cfc1491d854e69db043391e0.json"}}, {"family": "Puls", "given": "Florian", "initials": "F", "orcid": "0000-0002-9841-4230", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0290b39bf8df4d799729504d5ab0ae8a.json"}}, {"family": "Kogner", "given": "Per", "initials": "P", "orcid": "0000-0002-2202-9694", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aaa43812c53f4506be50ad29266dd237.json"}}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6a4f538e838c483eb968174f2df89165.json"}}, {"family": "Pronk", "given": "Cornelis Jan", "initials": "CJ", "orcid": "0000-0002-0073-9660", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6f007476115a4a29b4859fbe84fad34d.json"}}, {"family": "Wille", "given": "Joakim", "initials": "J", "orcid": "0009-0008-6426-9830", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/c13112bf82844897891fc8de8dacb6a2.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/dc038c13a8cb44bd93f3552ed250a179.json"}}, {"family": "Nist\u00e9r", "given": "Monica", "initials": "M", "orcid": "0000-0002-1261-3790", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e1ff9fe255d640c0a2bbed0913fe208d.json"}}, {"family": "Mertens", "given": "Fredrik", "initials": "F"}, {"family": "Sabel", "given": "Magnus", "initials": "M", "orcid": "0000-0002-3072-657X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/bb21eb962ff640199034b2dfa827d793.json"}}, {"family": "Nor\u00e9n-Nystr\u00f6m", "given": "Ulrika", "initials": "U", "orcid": "0000-0001-5606-5442", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b4e358be0b4243ffaf8526ff84dc31ed.json"}}, {"family": "Grillner", "given": "Pernilla", "initials": "P"}, {"family": "Nordgren", "given": "Ann", "initials": "A", "orcid": "0000-0003-3285-4281", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/02de5158a75e4fa9a5c7b8bf417a8fea.json"}}, {"family": "Ljungman", "given": "Gustaf", "initials": "G"}, {"family": "Sandgren", "given": "Johanna", "initials": "J", "orcid": "0000-0001-6776-2649", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/14214db9a98248228cf8825461ad73fd.json"}}, {"family": "Gisselsson", "given": "David", "initials": "D", "orcid": "0000-0002-0301-426X", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/43d7ebbd276e40eaae0dc9ea6d905d99.json"}}, {"family": "Genomic Medicine Sweden Childhood Cancer Working Group", "given": "", "initials": ""}], "type": "journal article", "published": "2023-06-00", "journal": {"title": "JCO Precis Oncol", "issn": "2473-4284", "volume": "7", "pages": "e2300039", "issn-l": null}, "abstract": "Several studies have indicated that broad genomic characterization of childhood cancer provides diagnostically and/or therapeutically relevant information in selected high-risk cases. However, the extent to which such characterization offers clinically actionable data in a prospective broadly inclusive setting remains largely unexplored.\n\nWe implemented prospective whole-genome sequencing (WGS) of tumor and germline, complemented by whole-transcriptome sequencing (RNA-Seq) for all children diagnosed with a primary or relapsed solid malignancy in Sweden. Multidisciplinary molecular tumor boards were set up to integrate genomic data in the clinical decision process along with a medicolegal framework enabling secondary use of sequencing data for research purposes.\n\nDuring the study's first 14 months, 118 solid tumors from 117 patients were subjected to WGS, with complementary RNA-Seq for fusion gene detection in 52 tumors. There was no significant geographic bias in patient enrollment, and the included tumor types reflected the annual national incidence of pediatric solid tumor types. Of the 112 tumors with somatic mutations, 106 (95%) exhibited alterations with a clear clinical correlation. In 46 of 118 tumors (39%), sequencing only corroborated histopathological diagnoses, while in 59 cases (50%), it contributed to additional subclassification or detection of prognostic markers. Potential treatment targets were found in 31 patients (26%), most commonly ALK mutations/fusions (n = 4), RAS/RAF/MEK/ERK pathway mutations (n = 14), FGFR1 mutations/fusions (n = 5), IDH1 mutations (n = 2), and NTRK2 gene fusions (n = 2). In one patient, the tumor diagnosis was revised based on sequencing. Clinically relevant germline variants were detected in 8 of 94 patients (8.5%).\n\nUp-front, large-scale genomic characterization of pediatric solid malignancies provides diagnostically valuable data in the majority of patients also in a largely unselected cohort.", "doi": "10.1200/PO.23.00039", "pmid": "37384868", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC10581599"}], "notes": [], "created": "2026-08-20T12:37:55.415Z", "modified": "2026-08-20T12:37:56.263Z"}]}