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  • Krali, OlgaUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden (author)

Multimodal classification of molecular subtypes in pediatric acute lymphoblastic leukemia

  • Article/chapterEnglish2023

Publisher, publication year, extent ...

  • Springer Nature,2023
  • electronicrdacarrier

Numbers

  • LIBRIS-ID:oai:DiVA.org:uu-518188
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-518188URI
  • https://doi.org/10.1038/s41698-023-00479-5DOI
  • http://kipublications.ki.se/Default.aspx?queryparsed=id:154506483URI
  • https://lup.lub.lu.se/record/98c6efff-535e-43fc-a5a7-dfd3e89816d8URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-218317URI

Supplementary language notes

  • Language:English
  • Summary in:English

Part of subdatabase

Classification

  • Subject category:ref swepub-contenttype
  • Subject category:art swepub-publicationtype

Notes

  • Genomic analyses have redefined the molecular subgrouping of pediatric acute lymphoblastic leukemia (ALL). Molecular subgroups guide risk-stratification and targeted therapies, but outcomes of recently identified subtypes are often unclear, owing to limited cases with comprehensive profiling and cross-protocol studies. We developed a machine learning tool (ALLIUM) for the molecular subclassification of ALL in retrospective cohorts as well as for up-front diagnostics. ALLIUM uses DNA methylation and gene expression data from 1131 Nordic ALL patients to predict 17 ALL subtypes with high accuracy. ALLIUM was used to revise and verify the molecular subtype of 281 B-cell precursor ALL (BCP-ALL) cases with previously undefined molecular phenotype, resulting in a single revised subtype for 81.5% of these cases. Our study shows the power of combining DNA methylation and gene expression data for resolving ALL subtypes and provides a comprehensive population-based retrospective cohort study of molecular subtype frequencies in the Nordic countries.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

  • Marincevic-Zuniga, YanaraUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)yanma214 (author)
  • Arvidsson, GustavUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden (author)
  • Enblad, Anna PiaUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Barnonkologisk och neurologisk forskning,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden; Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden(Swepub:uu)annen778 (author)
  • Lundmark, AndersUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)andlu294 (author)
  • Sayyab, ShumailaUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)shusa344 (author)
  • Zachariadis, VasiliosKarolinska Institute,Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden (author)
  • Heinäniemi, MerjaInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Kuopio, Finland (author)
  • Suhonen, JanneInstitute of Biomedicine, School of Medicine, University of Eastern Finland, Kuopio, Finland (author)
  • Oksa, LauraTampere Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; Tampere University Hospital, Tays Cancer Center, Tampere, Finland,Tampere University Hospital (author)
  • Vepsäläinen, KaisaDepartment of Pediatrics, Kuopio University Hospital, Kuopio, Finland (author)
  • Öfverholm, IngegerdKarolinska Institute,Department of Oncology-Pathology, Karolinska Institutet, Stockholm, Sweden; Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (author)
  • Barbany, GiselaKarolinska Institute,Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (author)
  • Nordgren, AnnKarolinska Institute,Karolinska Institutet,Department of Molecular Medicine and Surgery and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden (author)
  • Lilljebjörn, HenrikLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,Division of Clinical Genetics, Dept. of Laboratory Medicine, Lund University, Lund, Sweden(Swepub:lu)tmb-hli (author)
  • Fioretos, ThoasLund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Translationella genomiska och funktionella studier av leukemi,Forskargrupper vid Lunds universitet,LUCC: Lunds universitets cancercentrum,Övriga starka forskningsmiljöer,LTH profilområde: Teknik för hälsa,LTH profilområden,Lunds Tekniska Högskola,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Translational Genomic and Functional Studies of Leukemia,Lund University Research Groups,LUCC: Lund University Cancer Centre,Other Strong Research Environments,LTH Profile Area: Engineering Health,LTH Profile areas,Faculty of Engineering, LTH,Division of Clinical Genetics, Dept. of Laboratory Medicine, Lund University, Lund, Sweden(Swepub:lu)kgen-tfi (author)
  • Madsen, Hans ODepartment of Clinical Immunology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark (author)
  • Marquart, Hanne VibekeDepartment of Clinical Immunology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark,University of Copenhagen (author)
  • Flaegstad, TrondUniversity Hospital of North Norway,Department of Pediatrics, Tromsø University and University Hospital, Tromsø, Norway; For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden (author)
  • Forestier, ErikUmeå universitet,Umeå University,Medicinsk och klinisk genetik,For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden(Swepub:umu)erfo0007 (author)
  • Jónsson, Ólafur GNational University Hospital of Iceland,For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden; Pediatric Hematology-Oncology, Children’s Hospital, Barnaspitali Hringsins, Landspitali University Hospital, Reykjavik, Iceland (author)
  • Kanerva, JukkaFor the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden; New Children’s Hospital, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland (author)
  • Lohi, OlliTampere Center for Child, Adolescent and Maternal Health Research, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland; Tampere University Hospital, Tays Cancer Center, Tampere, Finland; For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden,Tampere University Hospital (author)
  • Norén-Nyström, UlrikaUmeå universitet,Umeå University,Pediatrik,For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden(Swepub:umu)kagr0007 (author)
  • Schmiegelow, KjeldCopenhagen University Hospital,For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden; Pediatrics and Adolescent Medicine, Rigshospitalet, and the Medical Faculty, Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark (author)
  • Harila, ArjaUppsala University,Uppsala universitet,Barnonkologisk och neurologisk forskning,Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden; For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden(Swepub:uu)arjha456 (author)
  • Heyman, MatsFor the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden; Childhood Cancer Research Unit, Karolinska Institutet, Astrid Lindgren Children’s Hospital, Karolinska University Hospital, Stockholm, Sweden (author)
  • Lönnerholm, Gudmar,1941-Uppsala University,Uppsala universitet,Barnonkologisk och neurologisk forskning,Department of Women’s and Children’s Health, Uppsala University, Uppsala, Sweden; For the Nordic Society of Pediatric Hematology and Oncology (NOPHO), Stockholm, Sweden(Swepub:uu)gudmarlh (author)
  • Syvänen, Ann-Christine,1950-Uppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)anncsyva (author)
  • Nordlund, JessicaUppsala University,Uppsala universitet,Molekylär precisionsmedicin,Science for Life Laboratory, SciLifeLab,Department of Medical Sciences, Molecular Precision Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden(Swepub:uu)jesno775 (author)
  • Uppsala universitetMolekylär precisionsmedicin (creator_code:org_t)

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