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The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

  • Kajsa Paulsson
  • Henrik Lilljebjörn
  • Andrea Biloglav
  • Linda Olsson
  • Marianne Rissler
  • Anders Castor
  • Gisela Barbany
  • Linda Fogelstrand
  • Ann Nordgren
  • Helene Sjögren
  • Thoas Fioretos
  • Bertil Johansson
Publishing year: 2015
Language: English
Pages: 672-676
Publication/Series: Nature Genetics
Volume: 47
Issue: 6
Document type: Journal article
Publisher: Nature Publishing Group

Abstract english

High hyperdiploid (51-67 chromosomes) acute lymphoblastic leukemia (ALL) is one of the most common childhood malignancies, comprising 30% of all pediatric B cell-precursor ALL. Its characteristic genetic feature is the nonrandom gain of chromosomes X, 4, 6, 10, 14, 17, 18 and 21, with individual trisomies or tetrasomies being seen in over 75% of cases, but the pathogenesis remains poorly understood. We performed whole-genome sequencing (WGS) (n = 16) and/or whole-exome sequencing (WES) (n = 39) of diagnostic and remission samples from 51 cases of high hyperdiploid ALL to further define the genomic landscape of this malignancy. The majority of cases showed involvement of the RTK-RAS pathway and of histone modifiers. No recurrent fusion gene-forming rearrangement was found, and an analysis of mutations on trisomic chromosomes indicated that the chromosomal gains were early events, strengthening the notion that the high hyperdiploid pattern is the main driver event in this common pediatric malignancy.


  • Medical Genetics


  • Genetic and epigenetic studies of pediatric leukemia
  • Aneuploidy in cancer
  • ISSN: 1546-1718
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67