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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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. / Schoumans, Jacqueline; Johansson, Bertil; Corcoran, Martin; Kuchinskaya, Ekaterina; Golovleva, Irina; Grander, Dan; Forestier, Erik; Staaf, Johan; Borg, Åke; Gustafsson, Britt; Blennow, Elisabeth; Nordgren, Ann.

In: British Journal of Haematology, Vol. 135, No. 4, 2006, p. 492-499.

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Schoumans, Jacqueline ; Johansson, Bertil ; Corcoran, Martin ; Kuchinskaya, Ekaterina ; Golovleva, Irina ; Grander, Dan ; Forestier, Erik ; Staaf, Johan ; Borg, Åke ; Gustafsson, Britt ; Blennow, Elisabeth ; Nordgren, Ann. / 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. In: British Journal of Haematology. 2006 ; Vol. 135, No. 4. pp. 492-499.

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TY - JOUR

T1 - 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

AU - Schoumans, Jacqueline

AU - Johansson, Bertil

AU - Corcoran, Martin

AU - Kuchinskaya, Ekaterina

AU - Golovleva, Irina

AU - Grander, Dan

AU - Forestier, Erik

AU - Staaf, Johan

AU - Borg, Åke

AU - Gustafsson, Britt

AU - Blennow, Elisabeth

AU - Nordgren, Ann

PY - 2006

Y1 - 2006

N2 - 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.

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.

KW - 20)

KW - array comparative genomic hybridisation

KW - dic(9

KW - acute lymphoblastic

KW - leukaemia

U2 - 10.1111/j.1365-2141.2006.06328.x

DO - 10.1111/j.1365-2141.2006.06328.x

M3 - Article

VL - 135

SP - 492

EP - 499

JO - British Journal of Haematology

T2 - British Journal of Haematology

JF - British Journal of Haematology

SN - 0007-1048

IS - 4

ER -