Detailed gene dose analysis reveals recurrent focal gene deletions in pediatric B-cell precursor acute lymphoblastic leukemia

Research output: Contribution to journalArticle


To identify copy number alterations (CNAs) in pediatric B-cell precursor acute lymphoblastic leukemia (BCP ALL), array comparative genomic hybridization was performed on 50 cases; detected CNAs were validated in a cohort of 191 cases analyzed by single nucleotide polymorphism arrays. Apart from CNAs involving leukemia-associated genes, recurrent deletions targeting genes not previously implicated in BCP ALL, e.g. INIP, IRF1 and PDE4B, were identified. Deletions of the DNA repair gene INIP were exclusively found in cases with t(12;21), and deletions of SH2B3 were associated with intrachromosomal amplification of chromosome 21 (p 


  • Ingegerd Ivanov Öfverholm
  • Anh Nhi Tran
  • Linda Olsson
  • Vasilios Zachariadis
  • Mats Heyman
  • Eva Rudd
  • Elisabeth Syk Lundberg
  • Magnus Nordenskjöld
  • Bertil Johansson
  • Ann Nordgren
  • Gisela Barbany
External organisations
  • Karolinska Institutet
  • Regional Laboratories Region Skåne
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Hematology
  • Medical Genetics


  • B-Other, CNA, copy number, deletion, pediatric ALL
Original languageEnglish
Pages (from-to)2161-2170
Number of pages10
JournalLeukemia & Lymphoma
Issue number9
Early online date2016 Apr 18
Publication statusPublished - 2016
Publication categoryResearch