PMID- 16999846 OWN - NLM STAT- MEDLINE DCOM- 20070409 LR - 20071115 IS - 0007-1048 (Print) IS - 0007-1048 (Linking) VI - 135 IP - 4 DP - 2006 Nov TI - 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. PG - 492-9 AB - 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. FAU - Schoumans, Jacqueline AU - Schoumans J AD - Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. jacqueline.schoumans@ki.se FAU - Johansson, Bertil AU - Johansson B FAU - Corcoran, Martin AU - Corcoran M FAU - Kuchinskaya, Ekaterina AU - Kuchinskaya E FAU - Golovleva, Irina AU - Golovleva I FAU - Grander, Dan AU - Grander D FAU - Forestier, Erik AU - Forestier E FAU - Staaf, Johan AU - Staaf J FAU - Borg, Ake AU - Borg A FAU - Gustafsson, Britt AU - Gustafsson B FAU - Blennow, Elisabeth AU - Blennow E FAU - Nordgren, Ann AU - Nordgren A LA - eng PT - Journal Article PT - Multicenter Study PT - Research Support, Non-U.S. Gov't DEP - 20060926 PL - England TA - Br J Haematol JT - British journal of haematology JID - 0372544 RN - 0 (DNA, Neoplasm) SB - IM MH - Adolescent MH - Burkitt Lymphoma/*genetics MH - Child MH - Child, Preschool MH - *Chromosome Aberrations MH - Chromosome Deletion MH - Chromosome Mapping/methods MH - Chromosomes, Human, Pair 20/*genetics MH - Chromosomes, Human, Pair 9/*genetics MH - DNA, Neoplasm/genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Infant MH - Karyotyping MH - Male MH - Nucleic Acid Hybridization/methods MH - Oligonucleotide Array Sequence Analysis/methods EDAT- 2006/09/27 09:00 MHDA- 2007/04/10 09:00 CRDT- 2006/09/27 09:00 PHST- 2006/09/27 09:00 [pubmed] PHST- 2007/04/10 09:00 [medline] PHST- 2006/09/27 09:00 [entrez] AID - BJH6328 [pii] AID - 10.1111/j.1365-2141.2006.06328.x [doi] PST - ppublish SO - Br J Haematol. 2006 Nov;135(4):492-9. doi: 10.1111/j.1365-2141.2006.06328.x. Epub 2006 Sep 26.