{"entity": "researcher", "timestamp": "2026-10-11T05:48:15.238Z", "family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "affiliations": ["Department of Medical BiosciencesPathology, Ume\u00e5 University Ume\u00e5 Sweden"], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f"}}, "publications": [{"entity": "publication", "iuid": "188369759b0648d5ae25d06f97ae8ef1", "links": {"self": {"href": "https://publications.scilifelab.se/publication/188369759b0648d5ae25d06f97ae8ef1.json"}, "display": {"href": "https://publications.scilifelab.se/publication/188369759b0648d5ae25d06f97ae8ef1"}}, "title": "CpG island methylator phenotype classification improves risk assessment in pediatric T-cell acute lymphoblastic leukemia.", "authors": [{"family": "Sch\u00e4fer Hackenhaar", "given": "Fernanda", "initials": "F", "orcid": "0000-0002-9395-2216", "researcher": {"href": "https://publications.scilifelab.se/researcher/6ac3981903a34a4d855647822d5339d1.json"}}, {"family": "Refhagen", "given": "Nina", "initials": "N"}, {"family": "Hagleitner", "given": "Melanie", "initials": "M"}, {"family": "van Leeuwen", "given": "Frank", "initials": "F", "orcid": "0000-0003-1107-6513", "researcher": {"href": "https://publications.scilifelab.se/researcher/97425d5c32d14c86b3b8414b24f6a387.json"}}, {"family": "Marquart", "given": "Hanne Vibeke", "initials": "HV", "orcid": "0000-0001-9740-6522", "researcher": {"href": "https://publications.scilifelab.se/researcher/c9476b7116154ea9990d7c61c675c794.json"}}, {"family": "Madsen", "given": "Hans Ole", "initials": "HO"}, {"family": "Landfors", "given": "Mattias", "initials": "M", "orcid": "0000-0003-3974-4245", "researcher": {"href": "https://publications.scilifelab.se/researcher/7e2393ca69324818ac8bcb976da908be.json"}}, {"family": "Osterman", "given": "Pia", "initials": "P"}, {"family": "Schmiegelow", "given": "Kjeld", "initials": "K"}, {"family": "Flaegstad", "given": "Trond", "initials": "T"}, {"family": "J\u00f3nsson", "given": "\u00d3lafur", "initials": "\u00d3"}, {"family": "Kanerva", "given": "Jukka", "initials": "J"}, {"family": "Abrahamsson", "given": "Jonas", "initials": "J"}, {"family": "Heyman", "given": "Mats", "initials": "M", "orcid": "0000-0001-7637-1949", "researcher": {"href": "https://publications.scilifelab.se/researcher/d810139e533a4c2493e62b3e03bb9623.json"}}, {"family": "Nor\u00e9n Nystr\u00f6m", "given": "Ulrika", "initials": "U", "orcid": "0000-0001-5606-5442", "researcher": {"href": "https://publications.scilifelab.se/researcher/03f7a89bc35d4e72b4b2c0d4252b69f0.json"}}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}], "type": "journal article", "published": "2025-05-08", "journal": {"title": "Blood", "issn": "1528-0020", "volume": "145", "issue": "19", "pages": "2161-2178", "issn-l": "0006-4971"}, "abstract": "Current intensive treatment of pediatric T-cell acute lymphoblastic leukemia (T-ALL) has substantial side effects, highlighting a need for novel biomarkers to improve risk stratification. Canonical biomarkers, such as genetics and immunophenotype, are largely not used in pediatric T-ALL stratification. This study aimed to validate the prognostic relevance of DNA methylation CpG island methylator phenotype (CIMP) risk stratification in 2 pediatric T-ALL patient cohorts: the Nordic Society of Paediatric Haematology (NOPHO) ALL2008 T-ALL study cohort (n = 192) and the Dutch Childhood Oncology Group (DCOG) ALL-10/ALL-11 validation cohorts (n = 156). Both cohorts revealed that combining CIMP classification at diagnosis with measurable residual disease (MRD) at treatment day 29 (D29) or 33 (D33) significantly improved outcome prediction. The poor prognosis subgroup, characterized by CIMP low/D29 or D33 MRD \u2265 0.1%, had a cumulative incidence of relapse (pCIR5yr) of 29% and 23% and overall survival (pOS5yr) of 59.7% and 65.4%, in NOPHO and DCOG, respectively. Conversely, a good prognosis subgroup was also identified representing CIMP high/D29 or D33 MRD < 0.1% with pCIR5yr of 0% and 3.4% and pOS5yr of 98.2% and 94.8%, in NOPHO and DCOG, respectively. For NOPHO, MRD was also evaluated on D15, and the relapse prediction accuracy of CIMP/D29 MRD (0.79) and CIMP/D15 MRD (0.75) classification was comparable, indicating potential for earlier stratification. The evaluation of the biology behind the CIMP subgroups revealed associations with transcriptome profiles, genomic aberrations, and mitotic history, suggesting distinct routes for leukemia development. In conclusion, integrating MRD assessment with the novel CIMP biomarker has the potential to improve risk stratification in pediatric T-ALL and guide future therapeutic decisions.", "doi": "10.1182/blood.2024026027", "pmid": "39841000", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service"}, "xrefs": [{"db": "pii", "key": "535228"}], "notes": [], "created": "2025-05-12T06:17:29.072Z", "modified": "2025-05-12T06:17:30.354Z"}, {"entity": "publication", "iuid": "60bd85765d1d41e8a85dc1c7ff43bbfc", "links": {"self": {"href": "https://publications.scilifelab.se/publication/60bd85765d1d41e8a85dc1c7ff43bbfc.json"}, "display": {"href": "https://publications.scilifelab.se/publication/60bd85765d1d41e8a85dc1c7ff43bbfc"}}, "title": "Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs", "authors": [{"family": "Framme", "given": "Jenny Lingman", "initials": "JL", "orcid": "0000-0001-5665-1927", "researcher": {"href": "https://publications.scilifelab.se/researcher/adf94743f00c47fa98def118f68b791a.json"}}, {"family": "Lundqvist", "given": "Christina", "initials": "C", "orcid": "0000-0002-2256-4072", "researcher": {"href": "https://publications.scilifelab.se/researcher/10b339e6cc1f48f3a5f736201038ee59.json"}}, {"family": "Lundell", "given": "Anna Carin", "initials": "AC"}, {"family": "van Schouwenburg", "given": "Pauline A", "initials": "PA"}, {"family": "Lemarquis", "given": "Andri L", "initials": "AL", "orcid": "0000-0001-5165-0247", "researcher": {"href": "https://publications.scilifelab.se/researcher/776e9a2ecebf446ba4d0e3d20c8d793c.json"}}, {"family": "Th\u00f6rn", "given": "Karolina", "initials": "K"}, {"family": "Lindgren", "given": "Susanne", "initials": "S"}, {"family": "Gudmundsdottir", "given": "Judith", "initials": "J", "orcid": "0000-0002-4500-4078", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd10ee75400d497a8d1c5b9ac7fccdc7.json"}}, {"family": "Lundberg", "given": "Vanja", "initials": "V"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}, {"family": "Zetterstr\u00f6m", "given": "Rolf H", "initials": "RH"}, {"family": "Borte", "given": "Stephan", "initials": "S"}, {"family": "Hammarstr\u00f6m", "given": "Lennart", "initials": "L", "orcid": "0000-0002-8635-9609", "researcher": {"href": "https://publications.scilifelab.se/researcher/542d61d71652421f8dda0f0154fe063b.json"}}, {"family": "Telemo", "given": "Esbj\u00f6rn", "initials": "E"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "van der Burg", "given": "Mirjam", "initials": "M"}, {"family": "Fasth", "given": "Anders", "initials": "A", "orcid": "0000-0002-0033-740X", "researcher": {"href": "https://publications.scilifelab.se/researcher/57576e445b0844f287e58d868dd22574.json"}}, {"family": "Oskarsd\u00f3ttir", "given": "S\u00f3lveig", "initials": "S"}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}], "type": "journal-article", "published": "2022-04-00", "journal": {"title": "J Clin Immunol", "issn": "0271-9142", "volume": "42", "issue": "3", "pages": "618-633", "issn-l": null}, "abstract": "Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion syndrome (22q11DS).\n\nTo investigate the long-term prognostic value of low levels of TRECs in newborns with 22q11DS.\n\nSubjects with 22q11DS and low TRECs at birth (22q11Low, N=10), matched subjects with 22q11DS and normal TRECs (22q11Normal, N=10), and matched healthy controls (HC, N=10) were identified. At follow-up (median age 16 years), clinical and immunological characterizations, covering lymphocyte subsets, immunoglobulins, TRECs, T-cell receptor repertoires, and relative telomere length (RTL) measurements were performed.\n\nAt follow-up, the 22q11Low group had lower numbers of na\u00efve T-helper cells, na\u00efve T-regulatory cells, na\u00efve cytotoxic T cells, and persistently lower TRECs compared to healthy controls. Receptor repertoires showed skewed V-gene usage for na\u00efve T-helper cells, whereas for na\u00efve cytotoxic T cells, shorter RTL and a trend towards higher clonality were found. Multivariate discriminant analysis revealed a clear distinction between the three groups and a skewing towards Th17 differentiation of T-helper cells, particularly in the 22q11Low individuals. Perturbations of B-cell subsets were found in both the 22q11Low and 22q11Normal group compared to the HC group, with larger proportions of na\u00efve B cells and lower levels of memory B cells, including switched memory B cells.\n\nThis long-term follow-up study shows that 22q11Low individuals have persistent immunologic aberrations and increased risk for immune dysregulation, indicating the necessity of lifelong monitoring.\n\nThis study elucidates the natural history of childhood immune function in newborns with 22q11DS and low TRECs, which may facilitate the development of programs for long-term monitoring and therapeutic choices.", "doi": "10.1007/s10875-021-01201-5", "pmid": "35080750", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9016018"}, {"db": "pii", "key": "10.1007/s10875-021-01201-5"}], "notes": [], "created": "2022-12-05T11:19:16.118Z", "modified": "2023-06-19T11:54:31.135Z"}, {"entity": "publication", "iuid": "363b739d24b643d29fe3d400f87f1af9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/363b739d24b643d29fe3d400f87f1af9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/363b739d24b643d29fe3d400f87f1af9"}}, "title": "DNA methylation and copy number variation profiling of T-cell lymphoblastic leukemia and lymphoma.", "authors": [{"family": "Haider", "given": "Zahra", "initials": "Z", "orcid": "0000-0002-0759-3932", "researcher": {"href": "https://publications.scilifelab.se/researcher/4084e066170543e699dd116c8e7c05df.json"}}, {"family": "Landfors", "given": "Mattias", "initials": "M"}, {"family": "Golovleva", "given": "Irina", "initials": "I", "orcid": "0000-0001-8741-0616", "researcher": {"href": "https://publications.scilifelab.se/researcher/b12b365ee27e430c9d17c5c07c762e28.json"}}, {"family": "Erlanson", "given": "Martin", "initials": "M"}, {"family": "Schmiegelow", "given": "Kjeld", "initials": "K"}, {"family": "Fl\u00e6gstad", "given": "Trond", "initials": "T"}, {"family": "Kanerva", "given": "Jukka", "initials": "J"}, {"family": "Nor\u00e9n-Nystr\u00f6m", "given": "Ulrika", "initials": "U"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}], "type": "journal article", "published": "2020-04-28", "journal": {"title": "Blood Cancer J", "issn": "2044-5385", "issn-l": "2044-5385", "volume": "10", "issue": "4", "pages": "45"}, "abstract": "Despite having common overlapping immunophenotypic and morphological features, T-cell lymphoblastic leukemia (T-ALL) and lymphoma (T-LBL) have distinct clinical manifestations, which may represent separate diseases. We investigated and compared the epigenetic and genetic landscape of adult and pediatric T-ALL (n = 77) and T-LBL (n = 15) patient samples by high-resolution genome-wide DNA methylation and Copy Number Variation (CNV) BeadChip arrays. DNA methylation profiling identified the presence of CpG island methylator phenotype (CIMP) subgroups within both pediatric and adult T-LBL and T-ALL. An epigenetic signature of 128 differentially methylated CpG sites was identified, that clustered T-LBL and T-ALL separately. The most significant differentially methylated gene loci included the SGCE/PEG10 shared promoter region, previously implicated in lymphoid malignancies. CNV analysis confirmed overlapping recurrent aberrations between T-ALL and T-LBL, including 9p21.3 (CDKN2A/CDKN2B) deletions. A significantly higher frequency of chromosome 13q14.2 deletions was identified in T-LBL samples (36% in T-LBL vs. 0% in T-ALL). This deletion, encompassing the RB1, MIR15A and MIR16-1 gene loci, has been reported as a recurrent deletion in B-cell malignancies. Our study reveals epigenetic and genetic markers that can distinguish between T-LBL and T-ALL, and deepen the understanding of the biology underlying the diverse disease localization.", "doi": "10.1038/s41408-020-0310-9", "pmid": "32345961", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41408-020-0310-9"}, {"db": "pmc", "key": "PMC7188684"}], "notes": [], "created": "2021-06-18T12:10:04.144Z", "modified": "2021-12-08T14:16:53.085Z"}, {"entity": "publication", "iuid": "9a523e4820c644a7959df8ad9317e94c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/9a523e4820c644a7959df8ad9317e94c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/9a523e4820c644a7959df8ad9317e94c"}}, "title": "Cell-of-origin determined by both gene expression profiling and immunohistochemistry is the strongest predictor of survival in patients with diffuse large B-cell lymphoma.", "authors": [{"family": "Abdulla", "given": "Maysaa", "initials": "M"}, {"family": "Hollander", "given": "Peter", "initials": "P", "orcid": "0000-0002-0226-5681", "researcher": {"href": "https://publications.scilifelab.se/researcher/b1c6693d3ede463eb78e6da010db601f.json"}}, {"family": "Pandzic", "given": "Tatjana", "initials": "T"}, {"family": "Mansouri", "given": "Larry", "initials": "L"}, {"family": "Ednersson", "given": "Susanne Bram", "initials": "SB"}, {"family": "Andersson", "given": "Per-Ola", "initials": "PO"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Fors", "given": "Maja", "initials": "M"}, {"family": "Erlanson", "given": "Martin", "initials": "M"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}, {"family": "Petersen", "given": "Helga Munch", "initials": "HM"}, {"family": "Asmar", "given": "Fazila", "initials": "F"}, {"family": "Gr\u00f8nbaek", "given": "Kirsten", "initials": "K"}, {"family": "Enblad", "given": "Gunilla", "initials": "G"}, {"family": "Cavelier", "given": "Lucia", "initials": "L", "orcid": "0009-0003-8195-370X", "researcher": {"href": "https://publications.scilifelab.se/researcher/f01226edb140436da0c9d166c1f5fe51.json"}}, {"family": "Rosenquist", "given": "Richard", "initials": "R", "orcid": "0000-0002-0211-8788", "researcher": {"href": "https://publications.scilifelab.se/researcher/b570128e641140fb964ae3241414f510.json"}}, {"family": "Amini", "given": "Rose-Marie", "initials": "RM", "orcid": "0000-0003-0901-5252", "researcher": {"href": "https://publications.scilifelab.se/researcher/c157abcd61fa4900b5ad502b408d6d95.json"}}], "type": "journal article", "published": "2020-01-00", "journal": {"volume": "95", "issn": "1096-8652", "issue": "1", "pages": "57-67", "title": "Am. J. Hematol.", "issn-l": "0361-8609"}, "abstract": "The tumor cells in diffuse large B-cell lymphomas (DLBCL) are considered to originate from germinal center derived B-cells (GCB) or activated B-cells (ABC). Gene expression profiling (GEP) is preferably used to determine the cell of origin (COO). However, GEP is not widely applied in clinical practice and consequently, several algorithms based on immunohistochemistry (IHC) have been developed. Our aim was to evaluate the concordance of COO assignment between the Lymph2Cx GEP assay and the IHC-based Hans algorithm, to decide which model is the best survival predictor. Both GEP and IHC were performed in 359 homogenously treated Swedish and Danish DLBCL patients, in a retrospective multicenter cohort. The overall concordance between GEP and IHC algorithm was 72%; GEP classified 85% of cases assigned as GCB by IHC, as GCB, while 58% classified as non-GCB by IHC, were categorized as ABC by GEP. There were significant survival differences (overall survival and progression-free survival) if cases were classified by GEP, whereas if cases were categorized by IHC only progression-free survival differed significantly. Importantly, patients assigned as non-GCB/ABC both by IHC and GEP had the worst prognosis, which was also significant in multivariate analyses. Double expression of MYC and BCL2 was more common in ABC cases and was associated with a dismal outcome. In conclusion, to determine COO both by IHC and GEP is the strongest outcome predictor to identify DLBCL patients with the worst outcome.", "doi": "10.1002/ajh.25666", "pmid": "31659781", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC6916573"}], "notes": [], "created": "2019-11-29T13:25:33.461Z", "modified": "2024-01-16T13:48:43.178Z"}, {"entity": "publication", "iuid": "c64fba21dcc844038518546956011401", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c64fba21dcc844038518546956011401.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c64fba21dcc844038518546956011401"}}, "title": "An integrated transcriptome analysis in T-cell acute lymphoblastic leukemia links DNA methylation subgroups to dysregulated TAL1 and ANTP homeobox gene expression.", "authors": [{"family": "Haider", "given": "Zahra", "initials": "Z"}, {"family": "Larsson", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0001-9054-5191", "researcher": {"href": "https://publications.scilifelab.se/researcher/573c6350305a49cba2ac0798dea21ae0.json"}}, {"family": "Landfors", "given": "Mattias", "initials": "M"}, {"family": "K\u00f6hn", "given": "Linda", "initials": "L"}, {"family": "Schmiegelow", "given": "Kjeld", "initials": "K"}, {"family": "Flaegstad", "given": "Trond", "initials": "T"}, {"family": "Kanerva", "given": "Jukka", "initials": "J"}, {"family": "Heyman", "given": "Mats", "initials": "M"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}], "type": "journal article", "published": "2019-01-00", "journal": {"title": "Cancer Med", "issn": "2045-7634", "issn-l": "2045-7634", "volume": "8", "issue": "1", "pages": "311-324"}, "abstract": "Classification of pediatric T-cell acute lymphoblastic leukemia (T-ALL) patients into CIMP (CpG Island Methylator Phenotype) subgroups has the potential to improve current risk stratification. To investigate the biology behind these CIMP subgroups, diagnostic samples from Nordic pediatric T-ALL patients were characterized by genome-wide methylation arrays, followed by targeted exome sequencing, telomere length measurement, and RNA sequencing. The CIMP subgroups did not correlate significantly with variations in epigenetic regulators. However, the CIMP+ subgroup, associated with better prognosis, showed indicators of longer replicative history, including shorter telomere length (P = 0.015) and older epigenetic (P < 0.001) and mitotic age (P < 0.001). Moreover, the CIMP+ subgroup had significantly higher expression of ANTP homeobox oncogenes, namely TLX3, HOXA9, HOXA10, and NKX2-1, and novel genes in T-ALL biology including PLCB4, PLXND1, and MYO18B. The CIMP- subgroup, with worse prognosis, was associated with higher expression of TAL1 along with frequent STIL-TAL1 fusions (2/40 in CIMP+ vs 11/24 in CIMP-), as well as stronger expression of BEX1. Altogether, our findings suggest different routes for leukemogenic transformation in the T-ALL CIMP subgroups, indicated by different replicative histories and distinct methylomic and transcriptomic profiles. These novel findings can lead to new therapeutic strategies.", "doi": "10.1002/cam4.1917", "pmid": "30575306", "labels": {"Clinical Genomics Ume\u00e5": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC6346238"}], "notes": [], "created": "2021-06-18T12:10:53.671Z", "modified": "2021-12-08T14:16:03.966Z"}, {"entity": "publication", "iuid": "8246f70d04c0430eb80630fc2bbe370a", "links": {"self": {"href": "https://publications.scilifelab.se/publication/8246f70d04c0430eb80630fc2bbe370a.json"}, "display": {"href": "https://publications.scilifelab.se/publication/8246f70d04c0430eb80630fc2bbe370a"}}, "title": "DNA methylation holds prognostic information in relapsed precursor B-cell acute lymphoblastic leukemia.", "authors": [{"family": "Borss\u00e9n", "given": "Magnus", "initials": "M"}, {"family": "Nordlund", "given": "Jessica", "initials": "J", "orcid": "0000-0001-8699-9959", "researcher": {"href": "https://publications.scilifelab.se/researcher/ddf48c9262134821bcc6ce1180049753.json"}}, {"family": "Haider", "given": "Zahra", "initials": "Z"}, {"family": "Landfors", "given": "Mattias", "initials": "M"}, {"family": "Larsson", "given": "P\u00e4r", "initials": "P", "orcid": "0000-0001-9054-5191", "researcher": {"href": "https://publications.scilifelab.se/researcher/573c6350305a49cba2ac0798dea21ae0.json"}}, {"family": "Kanerva", "given": "Jukka", "initials": "J"}, {"family": "Schmiegelow", "given": "Kjeld", "initials": "K"}, {"family": "Flaegstad", "given": "Trond", "initials": "T"}, {"family": "J\u00f3nsson", "given": "\u00d3lafur G\u00edsli", "initials": "\u00d3G"}, {"family": "Frost", "given": "Britt-Marie", "initials": "BM"}, {"family": "Palle", "given": "Josefine", "initials": "J"}, {"family": "Forestier", "given": "Erik", "initials": "E"}, {"family": "Heyman", "given": "Mats", "initials": "M"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "L\u00f6nnerholm", "given": "Gudmar", "initials": "G"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}], "type": "journal article", "published": "2018-03-05", "journal": {"volume": "10", "issn": "1868-7083", "issue": null, "pages": "31", "title": "Clin Epigenetics", "issn-l": "1868-7075"}, "abstract": "Few biological markers are associated with survival after relapse of B-cell precursor acute lymphoblastic leukemia (BCP-ALL). In pediatric T-cell ALL, we have identified promoter-associated methylation alterations that correlate with prognosis. Here, the prognostic relevance of CpG island methylation phenotype (CIMP) classification was investigated in pediatric BCP-ALL patients.\n\nSix hundred and one BCP-ALL samples from Nordic pediatric patients (age 1-18) were CIMP classified at initial diagnosis and analyzed in relation to clinical data.\n\nAmong the 137 patients that later relapsed, patients with a CIMP- profile (n = 42) at initial diagnosis had an inferior overall survival (pOS5years 33%) compared to CIMP+ patients (n = 95, pOS5years 65%) (p = 0.001), which remained significant in a Cox proportional hazards model including previously defined risk factors.\n\nCIMP classification is a strong candidate for improved risk stratification of relapsed BCP-ALL.", "doi": "10.1186/s13148-018-0466-3", "pmid": "29515676", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service"}, "xrefs": [{"db": "pii", "key": "466"}, {"db": "pmc", "key": "PMC5836434"}], "notes": [], "created": "2018-12-12T12:15:09.166Z", "modified": "2021-07-08T12:43:38.657Z"}]}