The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Thoas Fioretos

Thoas Fioretos

Research team manager

Thoas Fioretos

The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

Author

  • Kajsa Paulsson
  • Henrik Lilljebjörn
  • Andrea Biloglav
  • Linda Olsson
  • Marianne Rissler
  • Anders Castor
  • Gisela Barbany
  • Linda Fogelstrand
  • Ann Nordgren
  • Helene Sjögren
  • Thoas Fioretos
  • Bertil Johansson
Show all

Summary, in 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.

Department/s

  • Genetic and epigenetic studies of pediatric leukemia
  • Aneuploidy in cancer
  • Translational Genomic and Functional Studies of Leukemia
  • Division of Clinical Genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • Paediatrics (Lund)

Publishing year

2015

Language

English

Pages

672-676

Publication/Series

Nature Genetics

Volume

47

Issue

6

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Status

Published

Research group

  • Genetic and epigenetic studies of pediatric leukemia
  • Aneuploidy in cancer
  • Translational Genomic and Functional Studies of Leukemia

ISBN/ISSN/Other

  • ISSN: 1546-1718