Genetic and epigenetic studies of pediatric leukemia

Organisational unit: Research group

Research areas and keywords

UKÄ subject classification

  • Clinical Medicine


  • Pediatric leukemia, genetics, epigenetisk, pathogenesis, prognosis


Our aim is to increase our understanding of the leukemogenic process and to investigate the clinical impact of genetic/epigenetic abnormalities in pediatric acute lymphoblastic and myeloid leukemia (ALL and AML), focusing on: 1) Next generation sequencing (NGS) analyses of paired diagnostic and relapse samples to delineate the mutational road to relapse; 2) NGS analyses of isodisomies in ALL/AML to ascertain pathogenetically important gene mutations/imprinting abnormalities; 3) Genetic analyses of Down syndrome-related AML and ALL to identify clinically relevant changes, and 4) Genomic characterization of B-lineage ALL lacking characteristic genetic changes (“B-other”) to discover and characterize genetic aberrations that can be used to subclassify this heterogeneous group. Thus, our goals are to delineate novel subgroups, identify biomarkers of use for risk stratification and targeted therapy, and, ultimately, to improve the survival of children and adolescents with ALL and AML.

Recent research outputs

Karrman, K. & Bertil Johansson, 2017 Feb 1, In : Genes Chromosomes and Cancer. 56, 2, p. 89-116 28 p.

Research output: Contribution to journalReview article

Paulussen, A. D. C., Steyls, A., Vanoevelen, J., Van Tienen, F. H. J., Krapels, I. P. C., Claes, G. R. F., Chocron, S., Velter, C., Tan-Sindhunata, G. M., Lundin, C., Valenzuela, I., Nagy, B., Bache, I., Maroun, L. L., Avela, K., Brunner, H. G., Smeets, H. J. M., Bakkers, J. & Van Den Wijngaard, A., 2016 Dec 1, In : European Journal of Human Genetics. 24, 12, p. 1783-1791 9 p.

Research output: Contribution to journalArticle

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