{"entity": "researcher", "timestamp": "2026-11-09T05:48:50.647Z", "family": "Pratt", "given": "Guy", "initials": "G", "orcid": "0000-0002-6937-2852", "affiliations": ["School of Cancer Studies, University of Birmingham, Birmingham, United Kingdom.", "Department of Haematology, Heart of England NHS Foundation Trust, Birmingham, United Kingdom."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/ec63c0f8355f4e3cba4e0fd48e246da2.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/ec63c0f8355f4e3cba4e0fd48e246da2"}}, "publications": [{"entity": "publication", "iuid": "d879277a3cf6496eae1f6481eabdd771", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d879277a3cf6496eae1f6481eabdd771.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d879277a3cf6496eae1f6481eabdd771"}}, "title": "Integrated multiomic profiling reveals 2 distinct splenic marginal zone lymphoma subgroups with prognostic relevance.", "authors": [{"family": "Parker", "given": "Helen", "initials": "H"}, {"family": "Mirandari", "given": "Amatta", "initials": "A", "orcid": "0000-0002-3454-8723", "researcher": {"href": "https://publications.scilifelab.se/researcher/fe2c4726e4264f56880e145e52dc9dde.json"}}, {"family": "Stevens", "given": "Benjamin", "initials": "B", "orcid": "0009-0001-4516-8945", "researcher": {"href": "https://publications.scilifelab.se/researcher/d205205687384020ac94158333b426e9.json"}}, {"family": "Oquendo", "given": "Carolina Jaramillo", "initials": "CJ", "orcid": "0000-0002-9875-0998", "researcher": {"href": "https://publications.scilifelab.se/researcher/c01b499f6de44c4a91b985cbeb997ad7.json"}}, {"family": "Duran-Ferrer", "given": "Mart\u00ed", "initials": "M", "orcid": "0000-0003-1666-5819", "researcher": {"href": "https://publications.scilifelab.se/researcher/00de5a3a802143d184c21e397fc9b3e3.json"}}, {"family": "Buermann", "given": "Lara", "initials": "L", "orcid": "0000-0002-7989-9404", "researcher": {"href": "https://publications.scilifelab.se/researcher/5d0eadf372d641bf9fe89e53d7b7de8b.json"}}, {"family": "Amarasinghe", "given": "Harindra E", "initials": "HE", "orcid": "0009-0003-4012-4577", "researcher": {"href": "https://publications.scilifelab.se/researcher/e47bdc2fbca6431e89fb798ddf80423a.json"}}, {"family": "Thomas", "given": "Jaya", "initials": "J", "orcid": "0000-0002-3569-9101", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8a4442e6b6f4f078f31ec55b7826135.json"}}, {"family": "Carr", "given": "Louise", "initials": "L"}, {"family": "Syeda", "given": "Shama", "initials": "S"}, {"family": "Sakthipakan", "given": "Methusha", "initials": "M"}, {"family": "Parry", "given": "Marina", "initials": "M"}, {"family": "Rose-Zerilli", "given": "Matthew J J", "initials": "MJJ", "orcid": "0000-0002-1064-5350", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4a84edff0aa451fbeb23837c59ef281.json"}}, {"family": "Davis", "given": "Zadie", "initials": "Z"}, {"family": "McIver-Brown", "given": "Neil", "initials": "N"}, {"family": "Xochelli", "given": "Aliki", "initials": "A"}, {"family": "Ennis", "given": "Sarah", "initials": "S"}, {"family": "Scarf\u00f2", "given": "Lydia", "initials": "L", "orcid": "0000-0002-0844-0989", "researcher": {"href": "https://publications.scilifelab.se/researcher/47c4c336efb24d86b41c872d03836c78.json"}}, {"family": "Ghia", "given": "Paolo", "initials": "P", "orcid": "0000-0003-3750-7342", "researcher": {"href": "https://publications.scilifelab.se/researcher/46f24783739d44c7b73a1be28c344a35.json"}}, {"family": "Kalpadakis", "given": "Christina", "initials": "C"}, {"family": "Pangalis", "given": "Gerassimos", "initials": "G"}, {"family": "Rossi", "given": "Davide", "initials": "D"}, {"family": "Gaidano", "given": "Gianluca", "initials": "G", "orcid": "0000-0002-4681-0151", "researcher": {"href": 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"https://publications.scilifelab.se/researcher/ad6219eb25ad4023855b634fd584f6ee.json"}}, {"family": "Stamatopoulos", "given": "Kostas", "initials": "K"}, {"family": "Salido", "given": "Marta", "initials": "M", "orcid": "0000-0001-9988-5977", "researcher": {"href": "https://publications.scilifelab.se/researcher/a56cc869ea97407e903916e7892cd769.json"}}, {"family": "Ferrer", "given": "Ana", "initials": "A", "orcid": "0000-0002-3381-9472", "researcher": {"href": "https://publications.scilifelab.se/researcher/44efe03f684e4f8baaf72a28e8a45bc7.json"}}, {"family": "Thieblemont", "given": "Catherine", "initials": "C"}, {"family": "Hilton", "given": "Laura", "initials": "L", "orcid": "0000-0002-6413-6586", "researcher": {"href": "https://publications.scilifelab.se/researcher/cebd0963fd1b4f7a836b380f3cb8a22d.json"}}, {"family": "Morin", "given": "Ryan", "initials": "R", "orcid": "0000-0003-2932-7800", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1d13b9d68534df3a8a271742b55b240.json"}}, {"family": "Walewska", "given": "Renata", "initials": "R", "orcid": "0009-0007-5693-2789", "researcher": {"href": "https://publications.scilifelab.se/researcher/50d2b638c5d043d7ab019786fd5f3978.json"}}, {"family": "Mart\u00edn-Subero", "given": "Jos\u00e9 Ignacio", "initials": "JI", "orcid": "0000-0001-8809-5195", "researcher": {"href": "https://publications.scilifelab.se/researcher/06ccbd6b7051490fb2764ce9da7a418e.json"}}, {"family": "Oscier", "given": "David", "initials": "D"}, {"family": "Oakes", "given": "Christopher", "initials": "C", "orcid": "0000-0001-8000-9694", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5567d2932fd47a68fd29ef28894d294.json"}}, {"family": "Gibson", "given": "Jane", "initials": "J"}, {"family": "Bryant", "given": "Dean", "initials": "D", "orcid": "0000-0003-3163-608X", "researcher": {"href": "https://publications.scilifelab.se/researcher/62836f7aebe74b7093fb635bd8b1aa2a.json"}}, {"family": "Strefford", "given": "Jonathan C", "initials": "JC", "orcid": "0000-0002-0972-2881", "researcher": {"href": "https://publications.scilifelab.se/researcher/633f1e8dff5e4e9babb590eb159dac68.json"}}], "type": "journal article", "published": "2026-07-28", "journal": {"title": "Blood Adv", "issn": "2473-9537", "volume": "10", "issue": "14", "pages": "4943-4957", "issn-l": "2473-9529"}, "abstract": "Splenic marginal zone lymphoma (SMZL) is a rare B-cell malignancy with notable genetic, epigenetic, and clinical heterogeneity. In this study, we used coding and noncoding sequencing (n = 74), including whole-genome sequencing (WGS) of 24 paired tumor-normal samples, targeted sequencing (n = 55), and DNA methylation in 126 patients to characterize the disease. From WGS, we identified recurrent, predominantly clonal coding mutations in KLF2 (50%), KMT2D (25%), and NOTCH2 (25%), alongside rare mutations in FLNC (8%), novel mutations in FAM135B (17%), and noncoding mutational hot spots in BCL6, PAX5, and BACH2 linked to aberrant somatic hypermutation. At least 1 noncoding hot spot was detected in 69% of patients. Copy number aberrations were present in 73% of patients, including del(7q) (27%), gain(3q) (17%), and trisomy 12 (13%). DNA methylation profiling revealed 2 epigenetic subgroups: high-risk (HR) SMZL (n = 67) and low-risk SMZL (n = 59). SMZL-HR was associated with adverse features, including female sex, IGHV1-2\u221704 usage, KLF2 mutations, del(7q), shorter telomeres, and elevated epigenetically determined cumulative mitoses scores. Transcriptomic analysis highlighted enhanced cell proliferation in SMZL-HR, with enrichment of E2F and G2M checkpoint pathways and epigenetic regulation via EZH2. Patients with SMZL-HR had significantly shorter time to first treatment (TTFT) (hazard ratio, 1.9; P = .003) and reduced overall survival (hazard ratio, 2.5; P = .039): 85% of patients with SMZL-HR required treatment and showed a higher frequency of transformation (P = .007) and mortality (P< .001). Multivariate analysis confirmed SMZL-HR as an independent predictor of shorter TTFT (hazard ratio, 2.4; P = .001). These findings demonstrate the role of DNA methylation and molecular profiling in SMZL risk stratification.", "doi": "10.1182/bloodadvances.2025019336", "pmid": "42200578", "labels": {"National Genomics Infrastructure": "Service", "NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC13383228"}, {"db": "pii", "key": "568745"}], "notes": [], "created": "2026-11-06T09:12:30.163Z", "modified": "2026-11-06T09:12:31.299Z"}]}