{"entity": "researcher", "timestamp": "2026-08-07T19:36:34.628Z", "family": "B\u00f6iers", "given": "Charlotta", "initials": "C", "orcid": "0000-0002-4876-1218", "affiliations": ["Division of Molecular Hematology, Department of Laboratory Medicine, Lund Stem Cell Center, Faculty of Medicine, Lund University, Lund, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/e33b5ec83be045c693675ab6bda2e9d0.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/e33b5ec83be045c693675ab6bda2e9d0"}}, "publications": [{"entity": "publication", "iuid": "96e40f0e3f1e469e8f39ed47c75492f7", "links": {"self": {"href": "https://publications.scilifelab.se/publication/96e40f0e3f1e469e8f39ed47c75492f7.json"}, "display": {"href": "https://publications.scilifelab.se/publication/96e40f0e3f1e469e8f39ed47c75492f7"}}, "title": "Ontogeny-specific induction of the KMT2A::AFF1-fusion drives development of a distinct CD24 positive pre-leukemic state.", "authors": [{"family": "Calder\u00f3n", "given": "Ariana S", "initials": "AS", "orcid": "0000-0001-6271-6256", "researcher": {"href": "https://publications.scilifelab.se/researcher/67a972ca632a414f8d82013f69af6d15.json"}}, {"family": "Ghazanfari", "given": "Roshanak", "initials": "R"}, {"family": "Masoumi", "given": "Zahra", "initials": "Z"}, {"family": "Kharazi", "given": "Shabnam", "initials": "S"}, {"family": "Palo", "given": "Sara", "initials": "S"}, {"family": "Lang", "given": "Stefan", "initials": "S", "orcid": "0000-0002-0854-2328", "researcher": {"href": "https://publications.scilifelab.se/researcher/eed2cc9c00a7404d9cd4821a7d0cd92d.json"}}, {"family": "\u017demaitis", "given": "Kristijonas", "initials": "K"}, {"family": "Eldeeb", "given": "Mohamed", "initials": "M", "orcid": "0000-0002-8636-2189", "researcher": {"href": "https://publications.scilifelab.se/researcher/00a89e30b4ba4216ae5a9ca189fd8da0.json"}}, {"family": "Subramaniam", "given": "Agatheeswaran", "initials": "A", "orcid": "0000-0003-3966-3875", "researcher": {"href": "https://publications.scilifelab.se/researcher/5ccb1e6798b84f128c3143c8da8bd35a.json"}}, {"family": "Soneji", "given": "Shamit", "initials": "S"}, {"family": "Stam", "given": "Ronald W", "initials": "RW", "orcid": "0000-0003-4986-1656", "researcher": {"href": "https://publications.scilifelab.se/researcher/f528aaa6b3ba479f85619e1496e3f395.json"}}, {"family": "Bryder", "given": "David", "initials": "D", "orcid": "0000-0002-8761-4237", "researcher": {"href": "https://publications.scilifelab.se/researcher/30133810251344cb9fa3e42f0e2fd511.json"}}, {"family": "B\u00f6iers", "given": "Charlotta", "initials": "C", "orcid": "0000-0002-4876-1218", "researcher": {"href": "https://publications.scilifelab.se/researcher/e33b5ec83be045c693675ab6bda2e9d0.json"}}], "type": "journal article", "published": "2025-09-00", "journal": {"title": "Leukemia", "issn": "1476-5551", "volume": "39", "issue": "9", "pages": "2099-2111", "issn-l": "0887-6924"}, "abstract": "Infant Acute Lymphoblastic Leukemia (ALL) driven by the KMT2A::AFF1 onco-fusion is an aggressive, poor prognosis disease with few co-operative mutations. The fusion originates in utero, yet the embryonic initiating steps of disease development remain poorly understood. Here, we present a novel murine KMT2A::AFF1 model, that provides key insights into KMT2A::AFF1 pre-leukemia, relevant to human disease. The model enables precise oncogene induction, and upon targeting hematopoietic stem and progenitor cells (HSPCs) a selective negative impact on proliferation of hematopoietic stem cells (HSCs) was observed, regardless of developmental state during induction. However, a unique CD24+PreProB subset expanded exclusively within the KMT2A::AFF1 embryonic context. This population was absent when targeting lymphoid progenitors, highlighting the importance of the cell of origin for leukemic development. The CD24+PreProB subset displayed key features of pre-leukemic stem cells, including lineage plasticity and aberrant engraftment ability. In line with their pre-malignant phenotype, single-cell transcriptomics revealed a signature consistent with stemness, and notable, up-regulation of Hmga2, a regulator of self-renewal. The signature was critically transferable to human KMT2A::AFF1 patients. Furthermore, given that CD24 is a potential therapeutic target, our findings uncover a distinct embryonic pre-leukemic state with direct relevance to human disease.", "doi": "10.1038/s41375-025-02665-9", "pmid": "40646135", "labels": {"Clinical Genomics Lund": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC12380613"}, {"db": "pii", "key": "10.1038/s41375-025-02665-9"}], "notes": [], "created": "2025-11-05T18:41:18.358Z", "modified": "2025-11-10T14:06:52.558Z"}, {"entity": "publication", "iuid": "9fc684fb01ab4a8197ebfe75ca38b665", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9fc684fb01ab4a8197ebfe75ca38b665.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9fc684fb01ab4a8197ebfe75ca38b665"}}, "title": "Single-cell multiomics of human fetal hematopoiesis define a developmental-specific population and a fetal signature.", "authors": [{"family": "Sommarin", "given": "Mikael N E", "initials": "MNE", "orcid": "0000-0002-2581-5543", "researcher": {"href": "https://publications.scilifelab.se/researcher/bdeebff543c249689f31f956ca071905.json"}}, {"family": "Olofzon", "given": "Rasmus", "initials": "R", "orcid": "0000-0001-8079-8718", "researcher": {"href": "https://publications.scilifelab.se/researcher/1aa88864460e41a2a0fcd4f0e94b0172.json"}}, {"family": "Palo", "given": "Sara", "initials": "S"}, {"family": "Dhapola", "given": "Parashar", "initials": "P", "orcid": "0000-0002-8070-7238", "researcher": {"href": "https://publications.scilifelab.se/researcher/3b747086d7b04853bc1cca89d4a71bd2.json"}}, {"family": "Soneji", "given": "Shamit", "initials": "S", "orcid": "0000-0002-8007-2260", "researcher": {"href": "https://publications.scilifelab.se/researcher/111b2cd88bb24203968dec72996396c8.json"}}, {"family": "Karlsson", "given": "G\u00f6ran", "initials": "G"}, {"family": "B\u00f6iers", "given": "Charlotta", "initials": "C", "orcid": "0000-0002-4876-1218", "researcher": {"href": "https://publications.scilifelab.se/researcher/e33b5ec83be045c693675ab6bda2e9d0.json"}}], "type": "journal article", "published": "2023-09-26", "journal": {"title": "Blood Adv", "issn": "2473-9537", "volume": "7", "issue": "18", "pages": "5325-5340", "issn-l": "2473-9529"}, "abstract": "Knowledge of human fetal blood development and how it differs from adult blood is highly relevant to our understanding of congenital blood and immune disorders and childhood leukemia, of which the latter can originate in utero. Blood formation occurs in waves that overlap in time and space, adding to heterogeneity, which necessitates single-cell approaches. Here, a combined single-cell immunophenotypic and transcriptional map of first trimester primitive blood development is presented. Using CITE-seq (cellular indexing of transcriptomes and epitopes by sequencing), the molecular profile of established immunophenotype-gated progenitors was analyzed in the fetal liver (FL). Classical markers for hematopoietic stem cells (HSCs), such as CD90 and CD49F, were largely preserved, whereas CD135 (FLT3) and CD123 (IL3R) had a ubiquitous expression pattern capturing heterogenous populations. Direct molecular comparison with an adult bone marrow data set revealed that the HSC state was less frequent in FL, whereas cells with a lymphomyeloid signature were more abundant. An erythromyeloid-primed multipotent progenitor cluster was identified, potentially representing a transient, fetal-specific population. Furthermore, differentially expressed genes between fetal and adult counterparts were specifically analyzed, and a fetal core signature was identified. The core gene set could separate subgroups of acute lymphoblastic leukemia by age, suggesting that a fetal program may be partially retained in specific subgroups of pediatric leukemia. Our detailed single-cell map presented herein emphasizes molecular and immunophenotypic differences between fetal and adult blood cells, which are of significance for future studies of pediatric leukemia and blood development in general.", "doi": "10.1182/bloodadvances.2023009808", "pmid": "37379274", "labels": {"Clinical Genomics Lund": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10506049"}, {"db": "pii", "key": "496594"}], "notes": [], "created": "2023-11-21T18:53:00.623Z", "modified": "2024-01-23T08:28:41.924Z"}]}