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Åke Borg

Åke Borg

Principal investigator

Åke Borg

Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2

Author

  • Jacqueline Schoumans
  • Bertil Johansson
  • Martin Corcoran
  • Ekaterina Kuchinskaya
  • Irina Golovleva
  • Dan Grander
  • Erik Forestier
  • Johan Staaf
  • Åke Borg
  • Britt Gustafsson
  • Elisabeth Blennow
  • Ann Nordgren
Show all

Summary, in English

Although the dic(9;20)(p11-13;q11) is a recurrent chromosomal abnormality in paediatric B-cell precursor acute lymphoblastic leukaemia (BCP ALL), occurring in approximately 2% of the cases, its molecular genetic consequences have not been elucidated. In the present study, high-resolution genome-wide array-based comparative genomic hybridisation (array-CGH) and fluorescence in situ hybridisation (FISH) were used to characterise the 9p and 20q breakpoints (BPs) in seven childhood BCP ALLs with dic(9;20), which was shown to be unbalanced in all of them, resulting in loss of 9p13.2-pter. Five of the cases had loss of 20q11.2-qter, whereas two displayed gain of 20cen-pter. All BPs on 9p clustered in a 1.5 Mb segment of the sub-band 9p13.2; in three of the cases, the 20q BPs mapped to three adjacent clones covering a distance of 350 kb at 20q11.2. Thus, the aberration should be designated dic(9;20)(p13.2;q11.2). One of the ALLs, shown to have a complex dic(9;20), was further investigated by FISH, revealing a rearrangement of the haemapoietic cell kinase isoform p61 (HCK) gene at 20q11. The disruption of HCK may result in a fusion gene or in loss of function. Unfortunately, lack of material precluded further analyses of HCK. Thus, it remains to be elucidated whether dic(9;20)(p13.2;q11.2) leads to a chimaeric gene or whether the functionally important outcome is loss of 9p and 20q material.

Department/s

  • Division of Clinical Genetics
  • Breastcancer-genetics

Publishing year

2006

Language

English

Pages

492-499

Publication/Series

British Journal of Haematology

Volume

135

Issue

4

Document type

Journal article

Publisher

Wiley-Blackwell

Topic

  • Hematology

Keywords

  • 20)
  • array comparative genomic hybridisation
  • dic(9
  • acute lymphoblastic
  • leukaemia

Status

Published

ISBN/ISSN/Other

  • ISSN: 0007-1048