RAS mutations in early age leukaemia modulated by NQO1 rs1800566 (C609T) are associated with second-hand smoking exposures
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  • 作者:Francianne Gomes Andrade (5)
    Juliana Montibeller Furtado-Silva (5) (6)
    Bruno Alves de Aguiar Gon?alves (5)
    Luiz Claudio Santos Thuler (5)
    Thayana Concei??o Barbosa (5)
    Mariana Emerenciano (5)
    André Siqueira (6)
    Maria S Pombo-de-Oliveira (5)
  • 关键词:RAS mutation ; NQO1 ; MLL ; Tobacco smoking exposures ; Childhood leukaemia
  • 刊名:BMC Cancer
  • 出版年:2014
  • 出版时间:December 2014
  • 年:2014
  • 卷:14
  • 期:1
  • 全文大小:243 KB
  • 参考文献:1. Gale KB, Ford AM, Repp R, Borkhardt A, Keller C, Eden OB, Greaves MF: Backtracking leukemia to birth: identification of clonotypic gene fusion sequences in neonatal blood spots. / Proc Natl Acad Sci USA 1997,94(25):13950-3954. CrossRef
    2. Greaves MF, Wiemels J: Origins of chromosome translocations in childhood leukaemia. / Nat Rev 2003,3(9):1-1. CrossRef
    3. Inaba H, Greaves M, Mullighan CG: Acute lymphoblastic leukaemia. / Lancet 2013,381(9881):1943-955. CrossRef
    4. Shu XO, Perentesis JP, Wen W, Buckley JD, Boyle E, Ross JA, Robison LL, Children’s Oncology Group: Parental exposure to medications and hydrocarbons and ras mutations in children with acute lymphoblastic leukemia: a report from the children’s oncology group. / Cancer Epidemiol Biomarkers Prev 2004,13(7):1230-235.
    5. Porta M, Malats N, Jariod M, Grimalt JO, Rifà J, Carrato A, Guarner L, Salas A, Santiago-Silva M, Corominas JM, Andreu M, Real FX: Serum concentrations of organochlorine compounds and K-ras mutations in exocrine pancreatic cancer. PANKRAS II Study Group. / Lancet 1999,354(9196):2125-129. CrossRef
    6. Mangues R, Pellicer A: Ras activation in experimental carcinogenesis. / Semin Cancer Biol 1992,3(4):229-39.
    7. Chang F, Steelman LS, Lee JT, Shelton JG, Navolanic PM, Blalock WL, Franklin RA, McCubrey JA: Signal transduction mediated by the Ras/Raf/MEK/ERK pathway from cytokine receptors to transcription factors: potential targeting for therapeutic intervention. / Leukemia 2003,17(7):1263-293. CrossRef
    8. Case M, Matheson E, Minto L, Hassan R, Harrison CJ, Bown N, Bailey S, Vormoor J, Hall AG, Irving JA: Mutation of gene affecting the RAS pathway is common in childhood acute lymphoblastic leukemia. / Cancer Res 2008,68(16):6803-809. CrossRef
    9. Barletta E, Gorini G, Vineis P, Miligi L, Davico L, Mugnai G, Ciolli S, Leoni F, Bertini M, Matullo G, Costantini AS: RAS gene mutations in patients with acute myeloid leukaemia and exposure to chemical agents. / Carcinogenesis 2004,25(5):749-55. CrossRef
    10. Liang DC, Shih LY, Fu JF, Li HY, Wang HI, Hung IJ, Yang CP, Jaing TH, Chen SH, Liu HC: K-RAS mutations and N-RAS mutations in childhood acute leukemias with or without mixed-linage leukemia gene rearrangements. / Cancer 2006,106(4):950-56. CrossRef
    11. Balgobind BV, Hollink IH, Arentsen-Peters ST, Zimmermann M, Harbott J, Beverloo HB, von Bergh AR, Cloos J, Kaspers GJ, de Haas V, Zemanova Z, Stary J, Cayuela JM, Baruchel A, Creutzig U, Reinhardt D, Pieters R, Zwaan CM, van den Heuvel-Eibrink MM: Integrative analysis of type-I and type-II aberrations underscores the genetic heterogeneity of pediatric acute myeloid leukemia. / Haematologica 2011,96(10):1478-487. CrossRef
    12. Perentesis JP, Bhatia S, Boyle E, Shao Y, Shu XO, Steinbuch M, Sather HN, Gaynon P, Kiffmeyer W, Envall-Fox J, Robison LL: RAS oncogene mutations and outcome of therapy for childhood acute lymphoblastic leukemia. / Leukemia 2004,18(4):685-92. CrossRef
    13. Lee JW, Soung YH, Park WS, Kim SY, Nam SW, Min WS, Lee JY, Yoo NJ, Lee SH: BRAF mutations in acute leukemias. / Leukemia 2004,18(1):170-72. CrossRef
    14. Gustafsson B, Angelini S, Sander B, Christensson B, Hemminki K, Kumar R: Mutations in the BRAF and N-ras genes in childhood acute lymphoblastic leukaemia. / Leukemia 2005,19(2):310-12. CrossRef
    15. Davidsson J, Lilljebj?rn H, Panagopoulos I, Fioretos T, Johansson B: BRAF mutations are very rare in B- and T-cell pediatric acute lymphoblastic leukemias. / Leukemia 2008,22(8):1619-621. CrossRef
    16. Beaupre DM, Kurzrock R: RAS and leukemia: from basic mechanisms to gene-directed therapy. / J Clin Oncol 1999,17(3):1071-079.
    17. Wiemels JL, Zhang Y, Chang J, Zheng S, Metayer C, Zhang L, Smith MT, Ma X, Selvin S, Buffler PA, Wiencke JK: RAS mutation is associated with hyperdiploidy and parental characteristics in pediatric acute lymphoblastic leukemia. / Leukemia 2005,19(3):415-19. CrossRef
    18. Chang JS: Parental smoking and childhood leukemia. / Methods Mol Biol 2009, 472:103-37. CrossRef
    19. Alavanja M, Baron JA, Brownson RC, Buffler PA, DeMarini DM, Djordjevic MV, Doll R, Fontham ETH, Gao YT, IARC Working Group on the Evaluation of Carcinogenic Risks to Humans, Publication no 83: Tobacco smoke and involuntary smoking. In / IARC Monographs on the Evaluation of Carcinogenic Risks to Humans. Lyon: IARC press; 2004:1-438.
    20. Zhang J, Yin L, Liang G, Liu R, Pu Y: Detection of quinone oxidoreductase 1 (NQO1) single-nucleotide polymorphisms (SNP) related to benzene metabolism in immortalized B lymphocytes from a Chinese Han population. / J Toxicol Environ Health 2010,73(7):490-98. CrossRef
    21. de Aguiar Gon?alves BA, Vasconcelos GM, Thuler LC, Andrade C, Faro A, Pombo-de-Oliveira MS, Brazilian Collaborative Study Group of Infant Acute Leukemia: NQO1 rs1800566 (C609T), PON1 rs662 (Q192R), and PON1 rs854560 (L55M) polymorphisms segregate the risk of childhood acute leukemias according to age range distribution. / Cancer Causes Control 2012,23(11):1811-819. CrossRef
    22. Ferreira JD, Couto AC, Pombo-de-Oliveira MS, Koifman S, Brazilian Collaborative Study Group of Infant Acute Leukemia: Pregnancy, maternal tobacco smoking, and early age leukemia in Brazil. / Front Oncol 2012, 2:151. CrossRef
    23. Pombo-de-Oliveira MS, Koifman S, Brazilian Collaborative Study Group of Infant Acute Leukemia: Infant acute leukemia and maternal exposures during pregnancy. / Cancer Epidemiol Biomarkers Prev 2006,15(12):2336-341. CrossRef
    24. Emerenciano M, Meyer C, Mansur MB, Marschalek R, Pombo-de-Oliveira MS, Brazilian Collaborative Study Group of Infant Acute Leukaemia: The distribution of MLL breakpoints correlates with outcome in infant acute leukaemia. / Br J Haematol 2013,161(2):224-36. CrossRef
    25. Pombo-de-Oliveira MS, Koifman S, Vasconcelos GM, Emerenciano M, de Oliveira Novaes C, Brazilian Collaborative Study Group of Infant Acute Leukemia: Development and perspective of current Brazilian studies on the epidemiology of childhood leukemia. / Blood Cells Mol Dis 2009,42(2):121-25. CrossRef
    26. van Dongen JJ, Macintyre EA, Gabert JA, Delabesse E, Rossi V, Saglio G, Gottardi E, Rambaldi A, Dotti G, Griesinger F, Parreira A, Gameiro P, Diáz MG, Malec M, Langerak AW, San Miguel JF, Biondi A: Standardized RT-PCR analysis of fusion gene transcripts from chromosome aberrations in acute leukemia for detection of minimal residual disease. Report of the BIOMED-1 Concerted Action: investigation of minimal residual disease in acute leukemia. / Leukemia 1999,13(12):1901-928. CrossRef
    27. Emerenciano M, Agudelo Arias DP, Coser VM, de Brito GD, Macedo Silva ML, Pombo-de-Oliveira MS, Brazilian Collaborative Study Group of Infant Acute Leukemia: Molecular cytogenetic findings of acute leukemia included in the Brazilian Collaborative Study Group of Infant acute leukemia. / Pediatr Blood Cancer 2006,47(5):549-54. CrossRef
    28. Bornholdt J, Hansen J, Steiniche T, Dictor M, Antonsen A, Wolff H, Schlünssen V, Holmila R, Luce D, Vogel U, Husgafvel-Pursiainen K, Wallin H: K-ras mutations in sinonasal cancers in relation to wood dust exposure. / BMC Cancer 2008, 8:53-3. CrossRef
    29. Sivertsson A, Platz A, Hansson J, Lundeberg J: Pyrosequencing as an alternative to single-strand conformation polymorphism analysis for detection of N-ras mutations in human melanoma metastases. / Clin Chem 2002,48(12):2164-170.
    30. Ronaghi M: Pyrosequencing sheds light on DNA sequencing. / Genome Res 2001,11(1):3-1. CrossRef
    31. Wiemels JL, Cazzaniga G, Daniotti M, Eden OB, Addison GM, Masera G, Saha V, Biondi A, Greaves MF: Prenatal origin of acute lymphoblastic leukaemia in children. / Lancet 1999,354(9189):1499-503. CrossRef
    32. Emerenciano M, Menezes J, Vasquez ML, Zalcberg I, Thuler LC, Pombo-de-Oliveira MS, Brazilian Collaborative Study Group of Infant Acute Leukemia: Clinical relevance of FLT3 gene abnormalities in Brazilian patients with infant leukemia. / Leuk Lymphoma 2008,49(12):2291-297. CrossRef
    33. Ross JA, Potter JD, Reaman GH, Pendergrass TW, Robison LL: Maternal exposure to potential inhibitors of DNA topoisomerase II and infant leukemia (United States): a report from the children’s cancer group. / Cancer Causes Control 1996,7(6):581-90. CrossRef
    34. Alexander FE, Patheal SL, Biondi A, Brandalise S, Cabrera ME, Chan LC, Chen Z, Cimino G, Cordoba JC, Gu LJ, Hussein H, Ishii E, Kamel AM, Labra S, Magalh?es IQ, Mizutani S, Petridou E, de Oliveira MP, Yuen P, Wiemels JL, Greaves MF: Transplacental chemical exposure and risk of infant leukemia with MLL gene fusion. / Cancer Res 2001,61(6):2542-546.
    35. Ono R, Kumagai H, Nakajima H, Hishiya A, Taki T, Horikawa K, Takatsu K, Satoh T, Hayashi Y, Kitamura T, Nosaka T: Mixed-lineage-leukemia (MLL) fusion protein collaborates with Ras to induce acute leukemia through aberrant Hox expression and Raf activation. / Leukemia 2009,23(12):2197-09. CrossRef
    36. Milunsky A, Carmella SG, Ye M, Hecht SS: A tobacco-specific carcinogen in the fetus. / Prenat Diagn 2000,20(4):307-10. CrossRef
    37. Milne E, Greenop KR, Scott RJ, Bailey HD, Attia J, Dalla-Pozza L, de Klerk NH, Armstrong BK: Parental prenatal smoking and risk of childhood acute lymphoblastic leukemia. / Am J Epidemiol 2012,175(1):43-3. CrossRef
    38. Menegaux F, Ripert M, Hémon D, Clavel J: Maternal alcohol and coffee drinking, parental smoking and childhood leukaemia: a French population-based case–control study. / Paediatr Perinat Epidemiol 2007,21(4):293-99. CrossRef
    39. Metayer C, Zhang L, Wiemels JL, Bartley K, Schiffman J, Ma X, Aldrich MC, Chang JS, Selvin S, Fu CH, Ducore J, Smith MT, Buffler PA: Tobacco smoke exposure and the risk of childhood acute lymphoblastic and myeloid leukemias by cytogenetic subtype. / Cancer Epidemiol Biomarkers Prev 2013,22(9):1600-611. CrossRef
    40. Traver RD, Siegel D, Beall HD, Phillips RM, Gibson NW, Franklin WA, Ross D: Characterization of a polymorphism in NAD(P)H: quinone oxidoreductase (DT-diaphorase). / Br J Cancer 1997,75(1):69-5. CrossRef
    41. Smith MT, Wang Y, Skibola CF, Slater DJ, Lo Nigro L, Nowell PC, Lange BJ, Felix CA: Low NAD(P)H: quinone oxidoreductase activity is associated with increased risk of leukemia with MLL translocations in infants and children. / Blood 2002,100(13):4590-593. CrossRef
    42. Wiemels JL, Pagnamenta A, Taylor GM, Eden OB, Alexander FE, Greaves MF: A lack of a functional NAD(P)H: quinone oxidoreductase allele is selectively associated with pediatric leukemias that have MLL fusions United Kingdom Childhood Cancer Study Investigators. / Cancer Res 1999,59(16):4095-099.
    43. Guha N, Chang JS, Chokkalingam AP, Wiemels JL, Smith MT, Buffler PA: NQO1 polymorphisms and de novo childhood leukemia: a HuGE review and meta-analysis. / Am J Epidemiol 2008,168(11):1221-232. CrossRef
    44. Vijayakrishnan J, Houlston RS: Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis. / Haematologica 2010,95(8):1405-414. CrossRef
    45. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-2407/14/133/prepub
  • 作者单位:Francianne Gomes Andrade (5)
    Juliana Montibeller Furtado-Silva (5) (6)
    Bruno Alves de Aguiar Gon?alves (5)
    Luiz Claudio Santos Thuler (5)
    Thayana Concei??o Barbosa (5)
    Mariana Emerenciano (5)
    André Siqueira (6)
    Maria S Pombo-de-Oliveira (5)

    5. Clinical Research Program, Research Centre, Instituto Nacional de Cancer, INCA, Rio de Janeiro, Brazil
    6. Universidade do Estado do Amazonas, Manaus, AM, Brazil
  • ISSN:1471-2407
文摘
Background Deregulation of the MAPK genes signalling caused by somatic mutations have been implied in leukaemia pathogenesis, including RAS mutation (RAS mut) in acute myeloid leukaemia (AML), which has been associated with intra-uterine chemical exposures. A case-case study was conducted in order to explore maternal and child exposures to tobacco smoking associations with early age leukaemia (EAL). Methods Covariables of reference were MLL rearrangements (MLL-r), RAS mut and NQO1 rs1800566 (C609T). Samples from 150 acute lymphoblastic leukaemia (ALL) and 85 AML were included. Maternal exposures were assessed using a structured questionnaire with demographic, personal habits and residence history information. Restriction fragment length polymorphism and denaturing high performance liquid chromatography were used to screen FLT3, KRAS, and NRAS mutations; direct sequencing was performed to validate the results. NQO1 polymorphism was detected by real-time allelic discrimination technique. Results Overall, RAS mut were detected in 28.7% of EAL cases; BRAF mut was found only in one AML patient. Higher rate of KRAS mut was found in ALL (30.3%) compared to AML (20.8%) with MLL-r; RAS mut showed an association with second-hand tobacco smoking exposures (OR, 3.06, 95% CI, 1.03-9.07). A considerable increased risk for EAL with the combination of RAS mut and NQO1 609CT (OR, 4.24, 95% CI, 1.24-14.50) was observed. Conclusions Our data demonstrated the increased risk association between maternal smoking and EAL with MLL-r. Additionally, suggests that children second-hand tobacco exposures are associated with increased risk of EAL with RAS mut modulated by NQO1 rs1800566 (C609T).

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