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The Mutational Landscape in Pediatric Acute Lymphoblastic Leukemia Deciphered by Whole Genome Sequencing
Stockholm University, Faculty of Science, Department of Biochemistry and Biophysics. Stockholm University, Science for Life Laboratory (SciLifeLab).
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2015 (English)In: Human Mutation, ISSN 1059-7794, E-ISSN 1098-1004, Vol. 36, no 1, 118-128 p.Article in journal (Refereed) Published
Abstract [en]

Genomic characterization of pediatric acute lymphoblastic leukemia (ALL) has identified distinct patterns of genes and pathways altered in patients with well-defined genetic aberrations. To extend the spectrum of known somatic variants in ALL, we performed whole genome and transcriptome sequencing of three B-cell precursor patients, of which one carried the t(12;21)ETV6-RUNX1 translocation and two lacked a known primary genetic aberration, and one T-ALL patient. We found that each patient had a unique genome, with a combination of well-known and previously undetected genomic aberrations. By targeted sequencing in 168 patients, we identified KMT2D and KIF1B as novel putative driver genes. We also identified a putative regulatory non-coding variant that coincided with overexpression of the growth factor MDK. Our results contribute to an increased understanding of the biological mechanisms that lead to ALL and suggest that regulatory variants may be more important for cancer development than recognized to date. The heterogeneity of the genetic aberrations in ALL renders whole genome sequencing particularly well suited for analysis of somatic variants in both research and diagnostic applications.

Place, publisher, year, edition, pages
2015. Vol. 36, no 1, 118-128 p.
Keyword [en]
clonal heterogeneity, acute lymphoblastic leukemia, whole genome sequencing, RNA sequencing
National Category
Biological Sciences Medical Genetics
URN: urn:nbn:se:su:diva-113550DOI: 10.1002/humu.22719ISI: 000347076700016OAI: diva2:786748


Available from: 2015-02-06 Created: 2015-02-04 Last updated: 2015-02-06Bibliographically approved

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Ekman, Diana
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Department of Biochemistry and BiophysicsScience for Life Laboratory (SciLifeLab)
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