Variable breakpoints target PAX5 in patients with dicentric chromosomes: A model for the basis of unbalanced translocations in cancer

Proceedings of the National Academy of Sciences of the United States of America

Volumn 105, Issue 44, 2008, Pages 17050-17054

  An, Qian ^a   Wright, Sarah L ^a   Konn, Zoë J ^a,b   Matheson, Elizabeth ^c   Minto, Lynne ^c   Moorman, Anthony V ^a,c   Parker, Helen ^a   Griffiths, Mike ^d   Ross, Fiona M ^b   Davies, Teresa ^e   Hall, Andy G ^c   Harrison, Christine J ^a,c   Irving, Julie A ^c   Strefford, Jon C ^a  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

ALL; Breakpoint cloning; Molecular copy number counting

Indexed keywords

TRANSCRIPTION FACTOR PAX5;

ACUTE LYMPHOBLASTIC LEUKEMIA; ARTICLE; B LYMPHOCYTE; CANCER GENETICS; CHROMOSOME 9P; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; DICENTRIC CHROMOSOME; FLUORESCENCE IN SITU HYBRIDIZATION; FUSION GENE; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HUMAN; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ALLELES; B-CELL-SPECIFIC ACTIVATOR PROTEIN; BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 9; GENE DOSAGE; GENES, NEOPLASM; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; ONCOGENE PROTEINS, FUSION; PRECURSOR B-CELL LYMPHOBLASTIC LEUKEMIA-LYMPHOMA; TRANSLOCATION, GENETIC;

EID: 55949125130     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.0803494105     Document Type: Article

References (24)

1. Mitelman F, Mertens F, Johansson B (1997) A breakpoint map of recurrent chromosomal rearrangements in human neoplasia. Nat Genet 15:417-474.
2. Mitelman F, Johansson B, Mertens F (2007) The impact of translocations and gene fusions on cancer causation. Nat Rev Cancer 7:233-245.
3. Mitelman F, Johansson B, Mertens F (2004) Fusion genes and rearranged genes as a linear function of chromosome aberrations in cancer. Nat Genet 36:331-334.
4. Raimondi SC, et al. (1991) New recurring chromosomal translocations in childhood acute lymphoblastic leukemia. Blood 77:2016-2022.
5. Carroll AJ, et al. (1987) tdic(9;12):Anonrandom chromosome abnormality in childhood B-cell precursor acute lymphoblastic leukemia: A Pediatric Oncology Group study. Blood 70:1962-1965.
6. Rieder H, et al. (1995) dic(9;20): A new recurrent chromosome abnormality in adult acute lymphoblastic leukemia. Genes Chromosomes Cancer 13:54-61.
7. Strehl S, Konig M, Dworzak MN, Kalwak K, Haas OA (2003) PAX5/ETV6 fusion defines cytogenetic entity dic(9;12)(p13;p13). Leukemia 17:1121-1123.
8. Schoumans J, et al. (2006) 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. Br J Haematol 135:492-499.
9. Lundin C, et al. (2007) Tiling resolution array CGH of dic(7;9)(p11 approximately 13;p11 approximately 13) in B-cell precursor acute lymphoblastic leukemia reveals clustered breakpoints at 7p11.2 approximately 12.1 and 9p13.1. Cytogenet Genome Res 118:13-18.
10. Mullighan CG, et al. (2007) Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature 446:758-764.
11. Nutt SL, Heavey B, Rolink AG, Busslinger M (1999) Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature 401:556-562.
12. Bousquet M, et al. (2007) A novel PAX5-ELN fusion protein identified in B-cell acute lymphoblastic leukemia acts as a dominant negative on wild-type PAX5. Blood 109:3417-3423.
13. Nebral K, et al. (2007) Identification of PML as novel PAX5 fusion partner in childhood acute lymphoblastic leukaemia. Br J Haematol 139:269-274.
14. Knezevich SR, McFadden DE, Tao W, Lim JF, Sorensen PH (1998) A novel ETV6-NTRK3 gene fusion in congenital fibrosarcoma. Nat Genet 18:184-187.
15. Daser A, et al. (2006) Interrogation of genomes by molecular copy-number counting (MCC). Nat Methods 3:447-453.
16. Tomlins SA, et al. (2005) Recurrent fusion of TMPRSS2 and ETS transcription factor genes in prostate cancer. Science 310:644-648.
17. Kawamata N, et al. (2008) Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Blood 111:776-784.
18. Campbell PJ, et al. (2008) Identification of somatically acquired rearrangements in cancer using genome-wide massively parallel paired-end sequencing. Nat Genet 40:722-729.
19. Bignell GR, et al. (2007) Architectures of somatic genomic rearrangement in human cancer amplicons at sequence-level resolution. Genome Res 17:1296-1303.
20. Harrison CJ, Martineau M, Secker-Walker LM (2001) The Leukaemia Research Fund/ United Kingdom Cancer Cytogenetics Group Karyotype Database in acute lymphoblastic leukaemia: A valuable resource for patient management. Br J Haematol 113:3-10.
21. ISCN, ed (2005) An International System for Human Cytogenetic Nomenclature (S. Karger, Basel, Switzerland).
22. Clark R, et al. (2000) Monosomy 20 as a pointer to dicentric (9;20) in acute lymphoblastic leukemia. Leukemia 14:241-246.
23. Jalali GR, et al. (2008) Disruption of ETV6 in intron 2 results in upregulatory and insertional events in childhood acute lymphoblastic leukaemia. Leukemia 22:114-123.
24. Strefford JC, et al. (2006) Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. Proc Natl Acad Sci USA 103:8167-8172.