Trisomy 21 and cancers;Trisomie 21 et cancers

Morphologie

Volumn 96, Issue 314-315, 2012, Pages 57-66

  Ayed, W ^a,b,d   Gouas, L ^a,b   Penault Llorca, F ^a,c   Amouri, A ^d   Tchirkov, A ^a,b   Vago, P ^a,b  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^c CENTRE JEAN PERRIN   (France)

^d PASTEUR INSTITUTE OF TUNIS   (Tunisia)

Author keywords

Leukaemias; Protecting factors; Risk factors; Solid cancers; Trisomy 21

Indexed keywords

ANGIOGENESIS; APOPTOSIS; CANCER GROWTH; CANCER RISK; CHROMOSOME 21; EPITHELIUM CELL; GENE DOSAGE; HUMAN; NEOPLASM; ONCOGENE; PLEIOTROPY; REVIEW; STROMA CELL; TRISOMY 21; TUMOR SUPPRESSOR GENE; DOWN SYNDROME; GENETICS;

DOWN SYNDROME; HUMANS; NEOPLASMS;

EID: 84870235183     PISSN: 12860115     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.morpho.2012.10.001     Document Type: Review

References (100)

1. Ait Yahya-Graison E., et al. Classification of human chromosome 21 gene-expression variations in Down syndrome: impact on disease phenotypes. Am J Hum Genet 2007, 81(3):475-491.
2. Alowami S., et al. Mammographic density is related to stroma and stromal proteoglycan expression. Breast Cancer Res 2003, 5(5):R129-R135.
3. Altug-Teber O., et al. Specific transcriptional changes in human fetuses with autosomal trisomies. Cytogenet Genome Res 2007, 119(3-4):171-184.
4. Baek K.H., et al. Down's syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1. Nature 2009, 459(7250):1126-1130.
5. Bai R.Z., et al. Suppression of lung cancer in murine model: treated by combination of recombinant human endostsatin adenovirus with low-dose cisplatin. J Exp Clin Cancer Res 2009, 28:31.
6. Benard J., Beron-Gaillard N., Satge D. Down's syndrome protects against breast cancer: is a constitutional cell microenvironment the key?. Int J Cancer 2005, 113(1):168-170.
7. Bercovich D., et al. Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome. Lancet 2008, 372(9648):1484-1492.
8. Bierie B., Moses H.L. Tumour microenvironment: TGFbeta: the molecular Jekyll and Hyde of cancer. Nat Rev Cancer 2006, 6(7):506-520.
9. Boyd N.F., et al. Heritability of mammographic density, a risk factor for breast cancer. N Engl J Med 2002, 347(12):886-894.
10. Brand-Saberi B., et al. Distribution of extracellular matrix components in nuchal skin from fetuses carrying trisomy 18 and trisomy 21. Cell Tissue Res 1994, 277(3):465-475.
11. Brichard B., et al. Down syndrome: possible predisposition to retinoblastoma. Med Pediatr Oncol 2003, 41(1):73-74.
12. Busciglio J., Yankner B.A. Apoptosis and increased generation of reactive oxygen species in Down's syndrome neurons in vitro. Nature 1995, 378(6559):776-779.
13. Cabelof D.C., et al. Mutational spectrum at GATA1 provides insights into mutagenesis and leukemogenesis in Down syndrome. Blood 2009, 114(13):2753-2763.
14. Chen J., Odenike O., Rowley J.D. Leukaemogenesis: more than mutant genes. Nat Rev Cancer 2010, 10(1):23-36.
15. Chessells J.M., et al. Down's syndrome and acute lymphoblastic leukaemia: clinical features and response to treatment. Arch Dis Child 2001, 85(4):321-325.
16. Conti A., et al. Altered expression of mitochondrial and extracellular matrix genes in the heart of human fetuses with chromosome 21 trisomy. BMC Genomics 2007, 8:268.
17. Costa V., et al. Massive-scale RNA-Seq analysis of non ribosomal transcriptome in human trisomy 21. PLoS One 2011, 6(4):e18493.
18. de Haan J.B., et al. An altered antioxidant balance occurs in Down syndrome fetal organs: implications for the "gene-dosage effect" hypothesis. J Neural Transm Suppl 2003, 67:67-83.
19. Delom F., et al. Transchromosomic cell model of Down syndrome shows aberrant migration, adhesion and proteome response to extracellular matrix. Proteome Sci 2009, 7:31.
20. FitzPatrick D.R., et al. Transcriptome analysis of human autosomal trisomy. Hum Mol Genet 2002, 11(26):3249-3256.
21. Fonatsch C. The role of chromosome 21 in hematology and oncology. Genes Chromosomes Cancer 2010, 49(6):497-508.
22. Frost B.M., et al. Cellular cytotoxic drug sensitivity in children with acute leukemia and Down's syndrome: an explanation to differences in clinical outcome?. Leukemia 2000, 14(5):943-944.
23. Fulcher T., et al. Diabetic retinopathy in Down's syndrome. Br J Ophthalmol 1998, 82(4):407-409.
24. Gittenberger-de Groot A.C., et al. Collagen type VI expression during cardiac development and in human fetuses with trisomy 21. Anat Rec A Discov Mol Cell Evol Biol 2003, 275(2):1109-1116.
25. Glasson E.J., et al. The changing survival profile of people with Down's syndrome: implications for genetic counselling. Clin Genet 2002, 62(5):390-393.
26. Grose R., Dickson Fibroblast growth factor signaling in tumorigenesis. Cytokine Growth Factor Rev 2005, 16(2):179-186.
27. Gu Y.Z., Hogenesch J.B., Bradfield C.A. The PAS superfamily: sensors of environmental and developmental signals. Annu Rev Pharmacol Toxicol 2000, 40:519-561.
28. Hasle H. Pattern of malignant disorders in individuals with Down's syndrome. Lancet Oncol 2001, 2(7):429-436.
29. Hasle H., Clemmensen I.H., Mikkelsen M. Risks of leukaemia and solid tumours in individuals with Down's syndrome. Lancet 2000, 355(9199):165-169.
30. Hertzberg L., et al. Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group. Blood 2010, 115(5):1006-1017.
31. James R., et al. Acute leukemia in children with Down's syndrome: the importance of population-based study. Haematologica 2008, 93(8):1262-1263.
32. Jemal A., et al. Global cancer statistics. CA Cancer J Clin 2011, 61(2):69-90.
33. Johansson B., Harrison C.J. Acute myeloid leukemia. Cancer Cytogenetics 2009, 45-139. Wiley-Blackwell, Hoboken. 3rd ed. S. Heim, F. Mitelman (Eds.).
34. Jongewaard I.N., et al. Beta 1 integrin activation mediates adhesive differences between trisomy 21 and non-trisomic fibroblasts on type VI collagen. Am J Med Genet 2002, 109(4):298-305.
35. Kearney L., et al. Specific JAK2 mutation (JAK2R683) and multiple gene deletions in Down syndrome acute lymphoblastic leukemia. Blood 2009, 113(3):646-648.
36. Kim I.K., et al. Clinical significance of age at the time of diagnosis among young breast cancer patients. J Breast Cancer 2011, 14(4):314-321.
37. Korenberg J.R. Molecular mapping of the Down syndrome phenotype. Prog Clin Biol Res 1990, 360:105-115.
38. Korenberg J.R., et al. Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci U S A 1994, 91(11):4997-5001.
39. Krivit W., Good R.A. Simultaneous occurrence of mongolism and leukemia; report of a nationwide survey. AMA J Dis Child 1957, 94(3):289-293.
40. Kuhn D.E., et al. Human chromosome 21-derived miRNAs are overexpressed in down syndrome brains and hearts. Biochem Biophys Res Commun 2008, 370(3):473-477.
41. Kwak H.I., et al. Inhibition of breast cancer growth and invasion by single-minded 2s. Carcinogenesis 2007, 28(2):259-266.
42. Lee N.V., et al. ADAMTS1 mediates the release of antiangiogenic polypeptides from TSP1 and 2. EMBO J 2006, 25(22):5270-5283.
43. Lejeune J., Turpin R., Gautier M. Mongolism; a chromosomal disease (trisomy). Bull Acad Natl Med 1959, 143(11-12):256-265.
44. Liu L.L., et al. Combined IFN-gamma-endostatin gene therapy and radiotherapy attenuates primary breast tumor growth and lung metastases via enhanced CTL and NK cell activation and attenuated tumor angiogenesis in a murine model. Ann Surg Oncol 2009, 16(5):1403-1411.
45. Loughran S.J., et al. The transcription factor Erg is essential for definitive hematopoiesis and the function of adult hematopoietic stem cells. Nat Immunol 2008, 9(7):810-819.
46. Loussouarn D., et al. Prognostic impact of syndecan-1 expression in invasive ductal breast carcinomas. Br J Cancer 2008, 98(12):1993-1998.
47. Merrick J. Incidence and mortality of Down syndrome. Isr Med Assoc J 2000, 2(1):25-26.
48. Moffett P., Reece M., Pelletier J. The murine Sim-2 gene product inhibits transcription by active repression and functional interference. Mol Cell Biol 1997, 17(9):4933-4947.
49. Muntean A.G., et al. Transcription factor GATA-1 and Down syndrome leukemogenesis. Leuk Lymphoma 2006, 47(6):986-997.
50. Murdoch J.C., et al. Down's syndrome: an atheroma-free model?. Br Med J 1977, 2(6081):226-228.
51. Ng A.P., et al. Trisomy of Erg is required for myeloproliferation in a mouse model of Down syndrome. Blood 2010, 115(19):3966-3969.
52. Okuda T., et al. Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 1998, 91(9):3134-3143.
53. Ou Y.H., et al. The candidate tumor suppressor BTG3 is a transcriptional target of p53 that inhibits E2F1. EMBO J 2007, 26(17):3968-3980.
54. Paszek M.J., et al. Tensional homeostasis and the malignant phenotype. Cancer Cell 2005, 8(3):241-254.
55. Patja K., Eero P., Iivanainen M. Cancer incidence among people with intellectual disability. J Intellect Disabil Res 2001, 45(Pt 4):300-307.
56. Patja K., et al. Cancer incidence of persons with Down syndrome in Finland: a population-based study. Int J Cancer 2006, 118(7):1769-1772.
57. Patterson D. Molecular genetic analysis of Down syndrome. Hum Genet 2009, 126(1):195-214.
58. Paz-Miguel J.E., et al. Reactive oxygen intermediates during programmed cell death induced in the thymus of the Ts(1716)65Dn mouse, a murine model for human Down's syndrome. J Immunol 1999, 163(10):5399-5410.
59. Prandini P., et al. Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Am J Hum Genet 2007, 81(2):252-263.
60. Preudhomme C., et al. High incidence of biallelic point mutations in the Runt domain of the AML1/PEBP2 alpha B gene in Mo acute myeloid leukemia and in myeloid malignancies with acquired trisomy 21. Blood 2000, 96(8):2862-2869.
61. Pritchard M., et al. Down syndrome and the genes of human chromosome 21: current knowledge and future potentials. Report on the Expert workshop on the biology of chromosome 21 genes: towards gene-phenotype correlations in Down syndrome. Washington D. C. September 28-October 1, 2007. Cytogenet Genome Res 2008, 121(1):67-77.
62. Provenzano P.P., et al. Collagen density promotes mammary tumor initiation and progression. BMC Med 2008, 6:11.
63. Pui C.H., et al. Immunophenotypes and karyotypes of leukemic cells in children with Down syndrome and acute lymphoblastic leukemia. J Clin Oncol 1993, 11(7):1361-1367.
64. Rabin K.R., Whitlock J.A. Malignancy in children with trisomy 21. Oncologist 2009, 14(2):164-173.
65. Rahmani Z. APRO4 negatively regulates Src-tyrosine kinase activity in PC12 cells. J Cell Sci 2006, 119(Pt. 4):646-658.
66. Rainis L., et al. The proto-oncogene ERG in megakaryoblastic leukemias. Cancer Res 2005, 65(17):7596-7602.
67. Ravaud A. The mechanism of tumor angiogenesis. Prog Urol 2007, 17(1 Suppl. 1):144-147.
68. Reynolds L.E., et al. Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome. Nature 2010, 465(7299):813-817.
69. Rozovski U., et al. Genome-wide expression analysis of cultured trophoblast with trisomy 21 karyotype. Hum Reprod 2007, 22(9):2538-2545.
70. Salek-Ardakani S., et al. ERG is a megakaryocytic oncogene. Cancer Res 2009, 69(11):4665-4673.
71. Sanij E., et al. Ets-2 is induced by oxidative stress and sensitizes cells to H(2)O(2)-induced apoptosis: implications for Down's syndrome. Biochem Biophys Res Commun 2001, 287(4):1003-1008.
72. Satge D., Benard J. Carcinogenesis in Down syndrome: what can be learned from trisomy 21?. Semin Cancer Biol 2008, 18(5):365-371.
73. Satge D., Rickert C.H. A medical enigma: persons with Down syndrome do not develop medulloblastoma. Neuroepidemiology 2009, 32(2):164.
74. Satge D., et al. A lack of neuroblastoma in Down syndrome: a study from 11 European countries. Cancer Res 1998, 58(3):448-452.
75. Satge D., et al. Breast cancer in women with trisomy 21. Bull Acad Natl Med 2001, 185(7):1239-1252. discussion 1252-4.
76. Satge D., et al. A tumor profile in Down syndrome. Am J Med Genet 1998, 78(3):207-216.
77. Satge D., Vekemans M. Down syndrome patients are less likely to develop some (but not all) malignant solid tumours. Clin Genet 2011, 79(3):289-290. [author reply 291-2].
78. Schupf N., et al. Early menopause in women with Down's syndrome. J Intellect Disabil Res 1997, 41(Pt. 3):264-267.
79. Seth A., Watson D.K. ETS transcription factors and their emerging roles in human cancer. Eur J Cancer 2005, 41(16):2462-2478.
80. Sullivan S.G., et al. The profile and incidence of cancer in Down syndrome. J Intellect Disabil Res 2007, 51(Pt. 3):228-231.
81. Sullivan S.G., et al. The incidence of cancer in people with intellectual disabilities. Cancer Causes Control 2004, 15(10):1021-1025.
82. Sussan T.E., et al. Trisomy represses Apc(Min)-mediated tumours in mouse models of Down's syndrome. Nature 2008, 451(7174):73-75.
83. Tandonnet J., et al. Myeloid leukaemia in children with Down syndrome: report of the registry-based French experience between 1990 and 2003. Pediatr Blood Cancer 2003, 54(7):927-933.
84. Taub J.W., et al. Expression of chromosome 21-localized genes in acute myeloid leukemia: differences between Down syndrome and non-Down syndrome blast cells and relationship to in vitro sensitivity to cytosine arabinoside and daunorubicin. Blood 1999, 94(4):1393-1400.
85. Torsdottir G., et al. Copper, ceruloplasmin and superoxide dismutase (SOD1) in patients with Down's syndrome. Pharmacol Toxicol 2001, 89(6):320-325.
86. van de Water W., et al. Association between age at diagnosis and disease-specific mortality among postmenopausal women with hormone receptor-positive breast cancer. JAMA 2012, 307(6):590-597.
87. von Kaisenberg C.S., et al. Morphological classification of nuchal skin in human fetuses with trisomy 21, 18, and 13 at 12-18 weeks and in a trisomy 16 mouse. Anat Embryol (Berl) 1998, 197(2):105-124.
88. Vyas P., Crispino J.D. Molecular insights into Down syndrome-associated leukemia. Curr Opin Pediatr 2007, 19(1):9-14.
89. Warkany J. Trisomy 13-15 Dl and Turner syndrome, in congenital malformations 1975, Year Book Med Publ, St. Louis, MO, p. 296-303, 1123-36.
90. Wechsler J., et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet 2002, 32(1):148-152.
91. Wenstrup R.J., et al. Type V collagen controls the initiation of collagen fibril assembly. J Biol Chem 2004, 279(51):53331-53337.
92. Weydert C.J., et al. Overexpression of manganese or copper-zinc superoxide dismutase inhibits breast cancer growth. Free Radic Biol Med 2006, 41(2):226-237.
93. Wozniak M.A., et al. ROCK-generated contractility regulates breast epithelial cell differentiation in response to the physical properties of a three-dimensional collagen matrix. J Cell Biol 2003, 163(3):583-595.
94. Xie J.W., Haslam S.Z. Extracellular matrix, Rac1 signaling, and estrogen-induced proliferation in MCF-7 breast cancer cells. Breast Cancer Res Treat 2008, 110(2):257-268.
95. Yang N., et al. Syndecan-1 in breast cancer stroma fibroblasts regulates extracellular matrix fiber organization and carcinoma cell motility. Am J Pathol 2011, 178(1):325-335.
96. Yang Q., Rasmussen S.A., Friedman J.M. Mortality associated with Down's syndrome in the USA from 1983 to 1997: a population-based study. Lancet 2002, 359(9311):1019-1025.
97. Yu J., et al. Methylation-mediated downregulation of the B-cell translocation gene 3 (BTG3) in breast cancer cells. Gene Expr 2008, 14(3):173-182.
98. Zorick T.S., et al. High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours. Eur J Hum Genet 2001, 9(11):811-814.
99. Zwaan C.M., et al. Different drug sensitivity profiles of acute myeloid and lymphoblastic leukemia and normal peripheral blood mononuclear cells in children with and without Down syndrome. Blood 2002, 99(1):245-251.
100. Zwaan M.C., et al. Acute leukemias in children with Down syndrome. Pediatr Clin North Am 2008, 55(1):53-70. x.