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Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent involvement of genes at 20q11.21

Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent involvement of genes at 20q11.21
Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent involvement of genes at 20q11.21
The dic(9;20)(p11~13;q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia. Although it results in loss of material from 9p and 20q, the molecular targets on both chromosomes have not been fully elucidated.

From an initial cohort of 58 with acute lymphoblastic leukemia patients with this translocation, breakpoint mapping with fluorescence in situ hybridization on 26 of them revealed breakpoint heterogeneity of both chromosomes. PAX5 has been proposed to be the target gene on 9p, while for 20q, FISH analysis implicated the involvement of the ASXL1 gene, either by a breakpoint within (n=4) or centromeric (deletion, n=12) of the gene.

Molecular copy-number counting, long-distance inverse PCR and direct sequence analysis identified six dic(9;20) breakpoint sequences. In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B; we identified three new ones in this study: sequences 3’ of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3’ of FRG1B and LOC1499503.

This study provides insight into the breakpoint complexity underlying dicentric chromosomal formation in acute lymphoblastic leukemia and highlights putative target gene loci.
acute lymphoblastic leukemia, dic(9, 20), fusion genes, genetic target
0390-6078
1164-1169
An, Qian
6766de29-63b7-45eb-b21a-04cac9921373
Wright, Sarah L.
56f2b242-4d7d-46be-838b-9064ff96d152
Moorman, Anthony V.
e4ced178-ee03-47ef-bc5e-25d8453951d5
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Griffiths, Mike
f147af96-79ab-43ef-984c-550407b82c39
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Davies, Teresa
7feaa1c8-4ab7-4ac9-b350-136c8bc4af34
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Strefford, Jon C.
3782b392-f080-42bf-bdca-8aa5d6ca532f
An, Qian
6766de29-63b7-45eb-b21a-04cac9921373
Wright, Sarah L.
56f2b242-4d7d-46be-838b-9064ff96d152
Moorman, Anthony V.
e4ced178-ee03-47ef-bc5e-25d8453951d5
Parker, Helen
33e0cd81-d45f-49bc-9539-09345d79d895
Griffiths, Mike
f147af96-79ab-43ef-984c-550407b82c39
Ross, Fiona M.
ec0958f8-b992-4e4a-b7e3-c474600390ba
Davies, Teresa
7feaa1c8-4ab7-4ac9-b350-136c8bc4af34
Harrison, Christine J.
52da7673-509c-4b88-b92e-0c021c9c7d3e
Strefford, Jon C.
3782b392-f080-42bf-bdca-8aa5d6ca532f

An, Qian, Wright, Sarah L., Moorman, Anthony V., Parker, Helen, Griffiths, Mike, Ross, Fiona M., Davies, Teresa, Harrison, Christine J. and Strefford, Jon C. (2009) Heterogeneous breakpoints in patients with acute lymphoblastic leukaemia and dic(9;20)(p11~13;q11) show recurrent involvement of genes at 20q11.21. Haematologica, 94 (8), 1164-1169. (doi:10.3324/haematol.2008.002808).

Record type: Article

Abstract

The dic(9;20)(p11~13;q11) is a recurrent chromosomal abnormality in patients with acute lymphoblastic leukemia. Although it results in loss of material from 9p and 20q, the molecular targets on both chromosomes have not been fully elucidated.

From an initial cohort of 58 with acute lymphoblastic leukemia patients with this translocation, breakpoint mapping with fluorescence in situ hybridization on 26 of them revealed breakpoint heterogeneity of both chromosomes. PAX5 has been proposed to be the target gene on 9p, while for 20q, FISH analysis implicated the involvement of the ASXL1 gene, either by a breakpoint within (n=4) or centromeric (deletion, n=12) of the gene.

Molecular copy-number counting, long-distance inverse PCR and direct sequence analysis identified six dic(9;20) breakpoint sequences. In addition to the three previously reported: PAX5-ASXL1, PAX5-C20ORF112 and PAX5-KIF3B; we identified three new ones in this study: sequences 3’ of PAX5 disrupting ASXL1, and ZCCHC7 disrupted by sequences 3’ of FRG1B and LOC1499503.

This study provides insight into the breakpoint complexity underlying dicentric chromosomal formation in acute lymphoblastic leukemia and highlights putative target gene loci.

Full text not available from this repository.

More information

Published date: August 2009
Keywords: acute lymphoblastic leukemia, dic(9, 20), fusion genes, genetic target

Identifiers

Local EPrints ID: 72672
URI: https://eprints.soton.ac.uk/id/eprint/72672
ISSN: 0390-6078
PURE UUID: 6345bce0-0424-4082-a5f0-8a64c050d8a5
ORCID for Helen Parker: ORCID iD orcid.org/0000-0001-8308-9781
ORCID for Jon C. Strefford: ORCID iD orcid.org/0000-0002-0972-2881

Catalogue record

Date deposited: 22 Feb 2010
Last modified: 06 Oct 2018 00:36

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Contributors

Author: Qian An
Author: Sarah L. Wright
Author: Anthony V. Moorman
Author: Helen Parker ORCID iD
Author: Mike Griffiths
Author: Fiona M. Ross
Author: Teresa Davies
Author: Christine J. Harrison

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