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

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@article{65bafb9f68f740d6bade632c73883cb1,
title = "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",
abstract = "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.",
keywords = "20), array comparative genomic hybridisation, dic(9, acute lymphoblastic, leukaemia",
author = "Jacqueline Schoumans and Bertil Johansson and Martin Corcoran and Ekaterina Kuchinskaya and Irina Golovleva and Dan Grander and Erik Forestier and Johan Staaf and {\AA}ke Borg and Britt Gustafsson and Elisabeth Blennow and Ann Nordgren",
year = "2006",
doi = "10.1111/j.1365-2141.2006.06328.x",
language = "English",
volume = "135",
pages = "492--499",
journal = "British Journal of Haematology",
issn = "0007-1048",
publisher = "Federation of European Neuroscience Societies and Blackwell Publishing Ltd",
number = "4",

}