High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression

Leukemia

Volumn 21, Issue 6, 2007, Pages 1258-1266

  Kuiper, R P ^a   Schoenmakers, E F P M ^a   van Reijmersdal, S V ^a   Hehir Kwa, J Y ^a   van Kessel, A Geurts ^a   van Leeuwen, F N ^a   Hoogerbrugge, P M ^a,b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b DUTCH CHILDHOOD ONCOLOGY GROUP   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC AMP RESPONSIVE ELEMENT BINDING PROTEIN BINDING PROTEIN; CYCLIN DEPENDENT KINASE INHIBITOR 1B; IKAROS TRANSCRIPTION FACTOR; MIXED LINEAGE LEUKEMIA PROTEIN; PROTEIN KINASE FYN; PROTEIN P16; RAG1 PROTEIN; RAG2 PROTEIN; RETINOBLASTOMA PROTEIN; TRANSCRIPTION FACTOR ETV6; TRANSCRIPTION FACTOR PAX5; TRANSCRIPTION FACTOR RUNX1; VISFATIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ANEUPLOIDY; ARTICLE; B LYMPHOCYTE DIFFERENTIATION; CELL CYCLE G1 PHASE; CELL CYCLE PROGRESSION; CELL CYCLE REGULATION; CELL CYCLE S PHASE; CHILDHOOD LEUKEMIA; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DNA MICROARRAY; FEMALE; GENE DELETION; GENE DUPLICATION; GENE LOSS; GENETIC GAIN; GENOME ANALYSIS; HUMAN; HUMAN CELL; LEUKEMOGENESIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 34249733805     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/sj.leu.2404691     Document Type: Article

References (46)

1. Pui CH, Relling MV, Downing JR. Acute lymphoblastic leukemia. N Engl J Med 2004; 350: 1535-1548.
2. Chessels JM, Swansbury GJ, Reeves B, Bailey CC, Richards SM. Cytogenetics and prognosis in childhood lymphoblastic leukaemia: Results of MRC UKALL X. Medical Research Council Working Party in childhood leukaemia. Br J Haematol 1997; 99: 93-100.
3. Heerema NA, Nachman JB, Sather HN, Sensel MG, Lee MK, Hutchinson R et al. Hypodiploidy with less than 45 chromosomes confers adverse risk in childhood acute lymphoblastic leukemia: A report from the children's cancer group. Blood 1999; 94: 4036-4045.
4. Mrozek K, Heerema NA, Bloomfield CD. Cytogenetics in acute leukemia. Blood Rev 2004; 18: 115-136.
5. Druker BJ, Sawyers CL, Kantarjian H, Resta DJ, Reese SF, Ford JM et al. Activity of a specific inhibitor of the BCR-ABL tyrosine kinase in the blast crisis of chronic myeloid leukemia and acute lymphoblastic leukemia with the Philadelphia chromosome. N Engl J Med 2001; 344: 1038-1042.
6. de Vries BB, Pfundt R, Leisink M, Koolen DA, Vissers LE, Janssen IM et al. Diagnostic genome profiling in mental retardation. Am J Hum Genet 2005; 77: 606-616.
7. Leung YF, Cavalieri D. Fundamentals of cDNA microarray data analysis. Trends Genet 2003; 19: 649-659.
8. Nannya Y, Sanada M, Nakazaki K, Hosoya N, Wang L, Hangaishi A et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005; 65: 6071-6079.
9. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-454.
10. Bernardin F, Yang Y, Cleaves R, Zahurak M, Cheng L, Civin CI et al. TEL-AML1, expressed from t(12;21) in human acute lymphocytic leukemia, induces acute leukemia in mice. Cancer Res 2002; 62 3904-3908.
11. Strefford JC, van Delft FW, Robinson HM, Worley H, Yiannikouris O, Selzer R et al. Complex genomic alterations and gene expression in acute lymphoblastic leukemia with intrachromosomal amplification of chromosome 21. Proc Natl Acad Sci USA 2006; 103: 8167-8172.
12. Menasce LP, Orphanos V, Santibanez-Koref M, Boyle JM, Harrison CJ. Common region of deletion on the long arm of chromosome 6 in non-Hodgkin's lymphoma and acute lymphoblastic leukaemia. Genes Chromosomes Cancer 1994; 10: 286-288.
13. Jackson A, Carrara P, Duke V, Sinclair P, Papaioannou M, Harrison CJ et al. Deletion of 6q16-q21 in human lymphoid malignancies: A mapping and deletion analysis. Cancer Res 2000; 60: 2775-2779.
14. Cao L, Guo B, Kang R, Yang M, Zhang Z, Wu X. Identification of a 2-cM minimal deletion at 6q16.3-21 in childhood acute lymphoblastic leukemia in China. Pediatr Blood Cancer 2005; 45: 732-733.
15. Strefford JC, Worley H, Barber K, Wright S, Stewart AR, Robinson HM et al. Genome complexity in acute lymphoblastic leukemia is revealed by array-based comparative genomic hybridization. Oncogene 2007, January 22 [E-pub ahead of print].
16. van Zelm MC, van der BM, de RD, Barendregt BH, de Haas EF, Reinders MJ et al. Ig gene rearrangement steps are initiated in early human precursor B cell subsets and correlate with specific transcription factor expression. J Immunol 2005; 175: 5912-5922.
17. Bertrand P, Bastard C, Maingonnat C, Jardin F, Maisonneuve C, Courel MN et al. Mapping of MYC breakpoints in 8q24 rearrangements involving non-immunoglobulin partners in B-cell lymphomas. Leukemia 2007; 21: 515-523.
18. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 2000; 22: 452-459.
19. Raghavan M, Lillington DM, Skoulakis S, Debernardi S, Chaplin T, Foot NJ et al. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res 2005; 65: 375-378.
20. Okuda T, Shurtleff SA, Valentine MB, Raimondi SC, Head DR, Behm F et al. Frequent deletion of p161NK4a/MTS1 and p151NK4b/MTS2 in pediatric acute lymphoblastic leukemia. Blood 1995; 85: 2321-2330.
21. Lukas J, Parry D, Aagaard L, Mann DJ, Bartkova J, Strauss M et al. Retinoblastoma-protein-dependent cell-cycle inhibition by the tumour suppressor p16. Nature 1995; 375: 503-506.
22. Sharpless NE. INK4a/ARF: A multifunctional tumor suppressor locus. Mutat Res 2005; 576: 22-38.
23. Hannon GJ, Beach D. p151NK4B is a potential effector of TGF-beta-induced cell cycle arrest. Nature 1994; 371: 257-261.
24. Chandramohan V, Jeay S, Pianetti S, Sonenshein GE. Reciprocal control of Forkhead box O 3a and c-Myc via the phosphatidylinositol 3-kinase pathway coordinately regulates p27Kip1 levels. J Immunol 2004; 172: 5522-5527.
25. Moberg KH, Bell DW, Wahrer DC, Haber DA, Hariharan IK. Archipelago regulates Cyclin E levels in Drosophila and is mutated in human cancer cell lines. Nature 2001; 413: 311-316.
26. Welcker M, Orian A, Grim JE, Eisenman RN, Clurman BE. A nucleolar isoform of the Fbw7 ubiquitin ligase regulates c-Myc and cell size. Curr Biol 2004; 14: 1852-1857.
27. Veal E, Eisenstein M, Tseng ZH, Gill G. A cellular repressor of E1A-stimulated genes that inhibits activation by E2F. Mol Cell Biol 1998; 18: 5032-5041.
28. Di Bacco A, Gill G. The secreted glycoprotein CREG inhibits cell growth dependent on the mannose-6-phosphate/insulin-like growth factor II receptor. Oncogene 2003; 22: 5436-5445.
29. Nutt SL, Heavey B, Rolink AG, Busslinger M. Commitment to the B-lymphoid lineage depends on the transcription factor Pax5. Nature 1999; 401: 556-562.
30. Busslinger M. Transcriptional control of early B cell development. Annu Rev Immunol 2004; 22: 55-79.
31. Aspland SE, Bendall HH, Murre C. The role of E2A-PBX1 in leukemogenesis. Oncogene 2001; 20: 5708-5717.
32. Bain G, Maandag EC, Izon DJ, Amsen D, Kruisbeek AM, Weintraub BC et al. E2A proteins are required for proper B cell development and initiation of immunoglobulin gene rearrangements. Cell 1994; 79 885-892.
33. Lin H, Grosschedl R. Failure of B-cell differentiation in mice lacking the transcription factor EBF. Nature 1995; 376: 263-267.
34. Wikstrom I, Forssell J, Goncalves M, Colucci F, Holmberg D. E2-2 regulates the expansion of pro-B cells and follicular versus marginal zone decisions. J Immunol 2006; 177: 6723-6729.
35. Georgopoulos K. Haematopoietic cell-fate decisions, chromatin regulation and ikaros. Nat Rev Immunol 2002; 2: 162-174.
36. Bassing CH, Swat W, Alt FW. The mechanism and regulation of chromosomal V(D)J recombination. Cell 2002; 109 (Suppl): S45-S55.
37. Saijo K, Schmedt C, Su IH, Karasuyama H, Lowell CA, Reth M et al. Essential role of Src-family protein tyrosine kinases in NF-kappa B activation during B cell development. Nat Immunol 2003; 4: 274-279.
38. Dobenecker MW, Schmedt C, Okada M, Tarakhovsky A. The ubiquitously expressed Csk adaptor protein Cbp is dispensable for embryogenesis and T-cell development and function. Mol Cell Biol 2005; 25: 10533-10542.
39. Brunner C, Laumen H, Nielsen PJ, Kraut N, Wirth T. Expression of the aldehyde dehydrogenase 2-like gene is controlled by BOB.1/OBF.1 in B lymphocytes. J Biol Chem 2003; 278: 45231-45239.
40. Samal B, Sun Y, Stearns G, Xie C, Suggs S, McNiece I. Cloning and characterization of the cDNA encoding a novel human pre-B-cell colony-enhancing factor. Mol Cell Biol 1994; 14: 1431-1437.
41. Fukuhara A, Matsuda M, Nishizawa M, Segawa K, Tanaka M, Kishimoto K et al. Visfatin: A protein secreted by visceral fat that mimics the effects of insulin. Science 2005; 307: 426-430.
42. Hug C, Lodish HF. Visfatin: A new adipokine. Science 2005; 307 366-367.
43. Tsuzuki S, Seto M, Greaves M, Enver T. Modeling first-hit functions of the t(12;21) TEL-AML1 translocation in mice. Proc Natl Acad Sci USA 2004; 101: 8443-8448.
44. Downing JR, Mullighan CG. Tumor-specific genetic lesions and their influence on therapy in pediatric acute lymphoblastic leukemia. Hematol Am Soc Hematol Educ Program 2006, 118-122.
45. Medina KL, Singh H. Genetic networks that regulate B lymphopoiesis. Curr Opin Hematol 2005; 12: 203-209.
46. Hagman J, Lukin K. Transcription factors drive B cell development. Curr Opin Immunol 2006; 18: 127-134.