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Deep sequencing and SNP array analyses of pediatric T-cell acute lymphoblastic leukemia reveal NOTCH1 mutations in minor subclones and a high incidence of uniparental isodisomies affecting CDKN2A.

  • Kristina Karrman
  • Anders Castor
  • Mikael Behrendtz
  • Erik Forestier
  • Linda Olsson
  • Mats Ehinger
  • Andrea Biloglav
  • Thoas Fioretos
  • Kajsa Paulsson
  • Bertil Johansson
Publishing year: 2015
Language: English
Publication/Series: Journal of Hematology & Oncology
Volume: 8
Issue: 1
Document type: Journal article
Publisher: BioMed Central

Abstract english

Pediatric T-cell acute lymphoblastic leukemia (T-ALL) is a genetically heterogeneous disease that arises in a multistep fashion through acquisition of several genetic aberrations, subsequently giving rise to a malignant, clonal expansion of T-lymphoblasts. The aim of the present study was to identify additional as well as cooperative genetic events in T-ALL.


  • Medical Genetics
  • Pediatrics
  • Cancer and Oncology


  • Genetic and epigenetic studies of pediatric leukemia
  • ISSN: 1756-8722
Thoas Fioretos
E-mail: thoas.fioretos [at]

Principal investigator

Division of Clinical Genetics

+46 46 222 45 95

+46 70 334 33 67