{"entity": "publication", "iuid": "0f30c56470fb4d018a6deed520227836", "timestamp": "2026-09-23T21:38:30.471Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/0f30c56470fb4d018a6deed520227836.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/0f30c56470fb4d018a6deed520227836"}}, "title": "RAG1 co-expression signature identifies ETV6-RUNX1-like B-cell precursor acute lymphoblastic leukemia in children.", "authors": [{"family": "Chen", "given": "Dongfeng", "initials": "D"}, {"family": "Camponeschi", "given": "Alessandro", "initials": "A"}, {"family": "Nordlund", "given": "Jessica", "initials": "J"}, {"family": "Marincevic-Zuniga", "given": "Yanara", "initials": "Y"}, {"family": "Abrahamsson", "given": "Jonas", "initials": "J"}, {"family": "L\u00f6nnerholm", "given": "Gudmar", "initials": "G"}, {"family": "Fogelstrand", "given": "Linda", "initials": "L"}, {"family": "M\u00e5rtensson", "given": "Inga-Lill", "initials": "IL", "orcid": "0000-0003-3415-0560", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6e3619292ff044489cbd6fb198bb40fd.json"}}], "type": "journal article", "published": "2021-06-00", "journal": {"title": "Cancer Med", "issn": "2045-7634", "volume": "10", "issue": "12", "pages": "3997-4003", "issn-l": "2045-7634"}, "abstract": "B-cell precursor acute lymphoblastic leukemia (BCP-ALL) can be classified into subtypes according to the genetic aberrations they display. For instance, the translocation t(12;21)(p13;q22), representing the ETV6-RUNX1 fusion gene (ER), is present in a quarter of BCP-ALL cases. However, around 10% of the cases lack classifying chromosomal abnormalities (B-other). In pediatric ER BCP-ALL, rearrangement mediated by RAG (recombination-activating genes) has been proposed as the predominant driver of oncogenic rearrangement. Herein we analyzed almost 1600 pediatric BCP-ALL samples to determine which subtypes express RAG. We demonstrate that RAG1 mRNA levels are especially high in the ETV6-RUNX1 (ER) subtype and in a subset of B-other samples. We also define 31 genes that are co-expressed with RAG1 (RAG1-signature) in the ER subtype, a signature that also identifies this subset of B-other samples. Moreover, this subset also shares leukemia and pro-B gene expression signatures as well as high levels of the ETV6 target genes (BIRC7, WBP1L, CLIC5, ANGPTL2) with the ER subtype, indicating that these B-other cases are the recently identified ER-like subtype. We validated our results in a cohort where ER-like has been defined, which confirmed expression of the RAG1-signature in this recently described subtype. Taken together, our results demonstrate that the RAG1-signature identifies the ER-like subtype. As there are no definitive genetic markers to identify this novel subtype, the RAG1-signature represents a means to screen for this leukemia in children.", "doi": "10.1002/cam4.3928", "pmid": "33987955", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC8209579"}], "notes": [], "created": "2026-09-23T12:07:02.091Z", "modified": "2026-09-23T12:07:02.163Z"}