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Volumn 155, Issue 2, 2011, Pages 209-217

Constitutional trisomy 8p11.21-q11.21 mosaicism: A germline alteration predisposing to myeloid leukaemia

Author keywords

Array CGH; Cancer predisposition; Constitutional trisomy 8; Copy number alterations; Juvenile myelomonocytic leukaemia

Indexed keywords

ARTICLE; CANCER SUSCEPTIBILITY; CHILD; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONSTITUTIONAL PARTIAL TRISOMY 8; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; FNTA GENE; GENE; GERM LINE; GOLGA7 GENE; HUMAN; HUMAN TISSUE; IKBKB GENE; JUVENILE MYELOMONOCYTIC LEUKEMIA; MIR486 GENE; MYELOID LEUKEMIA; MYST3 GENE; PRIORITY JOURNAL; TRISOMY 8; UBE2V2 GENE;

EID: 80053569310     PISSN: 00071048     EISSN: 13652141     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2011.08817.x     Document Type: Article
Times cited : (26)

References (66)
  • 2
    • 26444443071 scopus 로고    scopus 로고
    • Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency
    • Ando, S., Maemori, M., Sakai, H., Ando, S., Shiraishi, H., Sakai, K. & Ruhnke, G.W. (2005) Constitutional trisomy 8 mosaicism with myelodysplastic syndrome complicated by intestinal Behcet disease and antithrombin III deficiency. Cancer Genetics and Cytogenetics, 162, 172-175.
    • (2005) Cancer Genetics and Cytogenetics , vol.162 , pp. 172-175
    • Ando, S.1    Maemori, M.2    Sakai, H.3    Ando, S.4    Shiraishi, H.5    Sakai, K.6    Ruhnke, G.W.7
  • 3
    • 0942290691 scopus 로고    scopus 로고
    • Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities
    • Baidas, S., Chen, T.J., Kolev, V., Wong, L.J., Imholte, J., Qin, N. & Meck, J. (2004) Constitutional trisomy 8 mosaicism due to meiosis II non-disjunction in a phenotypically normal woman with hematologic abnormalities. American Journal of Medical Genetics. Part A, 124A, 383-387.
    • (2004) American Journal of Medical Genetics. Part A , vol.124 , pp. 383-387
    • Baidas, S.1    Chen, T.J.2    Kolev, V.3    Wong, L.J.4    Imholte, J.5    Qin, N.6    Meck, J.7
  • 4
    • 33750432183 scopus 로고    scopus 로고
    • Nuclear factor-kappaB and inhibitor of kappaB kinase pathways in oncogenic initiation and progression
    • Basseres, D.S. & Baldwin, A.S. (2006) Nuclear factor-kappaB and inhibitor of kappaB kinase pathways in oncogenic initiation and progression. Oncogene, 25, 6817-6830.
    • (2006) Oncogene , vol.25 , pp. 6817-6830
    • Basseres, D.S.1    Baldwin, A.S.2
  • 7
    • 0033843813 scopus 로고    scopus 로고
    • Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism
    • Brady, A.F., Waters, C.S., Pocha, M.J. & Brueton, L.A. (2000) Chronic myelomonocytic leukaemia in a child with constitutional partial trisomy 8 mosaicism. Clinical Genetics, 58, 142-146.
    • (2000) Clinical Genetics , vol.58 , pp. 142-146
    • Brady, A.F.1    Waters, C.S.2    Pocha, M.J.3    Brueton, L.A.4
  • 9
    • 0242643643 scopus 로고    scopus 로고
    • The phosphoinositide 3-kinase/Akt pathway regulates cell cycle progression of HL60 human leukemia cells through cytoplasmic relocalization of the cyclin-dependent kinase inhibitor p27(Kip1) and control of cyclin D1 expression
    • Cappellini, A., Tabellini, G., Zweyer, M., Bortul, R., Tazzari, P.L., Billi, A.M., Fala, F., Cocco, L. & Martelli, A.M. (2003) The phosphoinositide 3-kinase/Akt pathway regulates cell cycle progression of HL60 human leukemia cells through cytoplasmic relocalization of the cyclin-dependent kinase inhibitor p27(Kip1) and control of cyclin D1 expression. Leukemia, 17, 2157-2167.
    • (2003) Leukemia , vol.17 , pp. 2157-2167
    • Cappellini, A.1    Tabellini, G.2    Zweyer, M.3    Bortul, R.4    Tazzari, P.L.5    Billi, A.M.6    Fala, F.7    Cocco, L.8    Martelli, A.M.9
  • 11
    • 0035905756 scopus 로고    scopus 로고
    • The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase
    • Champagne, N., Pelletier, N. & Yang, X.J. (2001) The monocytic leukemia zinc finger protein MOZ is a histone acetyltransferase. Oncogene, 20, 404-409.
    • (2001) Oncogene , vol.20 , pp. 404-409
    • Champagne, N.1    Pelletier, N.2    Yang, X.J.3
  • 12
    • 25144438691 scopus 로고    scopus 로고
    • Ubiquitin-dependent activation of NF-kappaB: K63-linked ubiquitin chains: a link to cancer?
    • Chen, Z.J. & Fuchs, S.Y. (2004) Ubiquitin-dependent activation of NF-kappaB: K63-linked ubiquitin chains: a link to cancer? Cancer biology and therapy, 3, 286-288.
    • (2004) Cancer biology and therapy , vol.3 , pp. 286-288
    • Chen, Z.J.1    Fuchs, S.Y.2
  • 13
  • 16
    • 0017286689 scopus 로고
    • Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood.
    • Gafter, U., Shabtal, F., Kahn, Y., Halbrecht, I. & Djaldetti, M. (1976) Aplastic anemia followed by leukemia in congenital trisomy 8 mosaicism. Ultrastructural studies of polymorphonuclear cells in peripheral blood.. Clinical Genetics, 9, 134-142.
    • (1976) Clinical Genetics , vol.9 , pp. 134-142
    • Gafter, U.1    Shabtal, F.2    Kahn, Y.3    Halbrecht, I.4    Djaldetti, M.5
  • 20
    • 0028881534 scopus 로고
    • Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype
    • Hasle, H., Clausen, N., Pedersen, B. & Bendix-Hansen, K. (1995) Myelodysplastic syndrome in a child with constitutional trisomy 8 mosaicism and normal phenotype. Cancer Genetics and Cytogenetics, 79, 79-81.
    • (1995) Cancer Genetics and Cytogenetics , vol.79 , pp. 79-81
    • Hasle, H.1    Clausen, N.2    Pedersen, B.3    Bendix-Hansen, K.4
  • 21
    • 0030924499 scopus 로고    scopus 로고
    • The genetics of familial leukemia
    • Horwitz, M. (1997) The genetics of familial leukemia. Leukemia, 11, 1347-1359.
    • (1997) Leukemia , vol.11 , pp. 1347-1359
    • Horwitz, M.1
  • 23
  • 26
    • 0035142070 scopus 로고    scopus 로고
    • Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8;22)(p11;q13) chromosome translocation
    • Kitabayashi, I., Aikawa, Y., Yokoyama, A., Hosoda, F., Nagai, M., Kakazu, N., Abe, T. & Ohki, M. (2001) Fusion of MOZ and p300 histone acetyltransferases in acute monocytic leukemia with a t(8;22)(p11;q13) chromosome translocation. Leukemia, 15, 89-94.
    • (2001) Leukemia , vol.15 , pp. 89-94
    • Kitabayashi, I.1    Aikawa, Y.2    Yokoyama, A.3    Hosoda, F.4    Nagai, M.5    Kakazu, N.6    Abe, T.7    Ohki, M.8
  • 29
    • 33645280589 scopus 로고    scopus 로고
    • Inherited predispositions and hyperactive Ras in myeloid leukemogenesis
    • Lauchle, J.O., Braun, B.S., Loh, M.L. & Shannon, K. (2006) Inherited predispositions and hyperactive Ras in myeloid leukemogenesis. Pediatric Blood and Cancer, 46, 579-585.
    • (2006) Pediatric Blood and Cancer , vol.46 , pp. 579-585
    • Lauchle, J.O.1    Braun, B.S.2    Loh, M.L.3    Shannon, K.4
  • 31
    • 79951979515 scopus 로고    scopus 로고
    • Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia
    • Loh, M.L. (2011) Recent advances in the pathogenesis and treatment of juvenile myelomonocytic leukaemia. British Journal of Haematology, 152, 677-687.
    • (2011) British Journal of Haematology , vol.152 , pp. 677-687
    • Loh, M.L.1
  • 33
    • 0029063603 scopus 로고
    • Constitutional trisomy 8 mosaicism and gestational trophoblastic disease
    • Mark, F.L., Ahearn, J. & Lathrop, J.C. (1995) Constitutional trisomy 8 mosaicism and gestational trophoblastic disease. Cancer Genetics and Cytogenetics, 80, 150-154.
    • (1995) Cancer Genetics and Cytogenetics , vol.80 , pp. 150-154
    • Mark, F.L.1    Ahearn, J.2    Lathrop, J.C.3
  • 34
    • 41149158006 scopus 로고    scopus 로고
    • Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism
    • Marti, S., Galan, F.M., Casero, J.M., Merino, J. & Rubio, G. (2008) Characterization of trisomic natural killer cell abnormalities in a patient with constitutional trisomy 8 mosaicism. Pediatric Hematology and Oncology, 25, 135-146.
    • (2008) Pediatric Hematology and Oncology , vol.25 , pp. 135-146
    • Marti, S.1    Galan, F.M.2    Casero, J.M.3    Merino, J.4    Rubio, G.5
  • 37
    • 0028891540 scopus 로고
    • Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: a new subset of biologically related patients?
    • Mastrangelo, R., Tornesello, A., Mastrangelo, S., Zollino, M. & Neri, G. (1995) Constitutional trisomy 8 mosaicism evolving to primary myelodysplastic syndrome: a new subset of biologically related patients? American Journal of Hematology, 48, 67-68.
    • (1995) American Journal of Hematology , vol.48 , pp. 67-68
    • Mastrangelo, R.1    Tornesello, A.2    Mastrangelo, S.3    Zollino, M.4    Neri, G.5
  • 38
    • 0021795952 scopus 로고
    • Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism
    • Nakamura, Y., Nakashima, H., Fukuda, S., Hashimoto, T. & Maruyama, M. (1985) Bilateral cystic nephroblastomas and multiple malformations with trisomy 8 mosaicism. Human Pathology, 16, 754-756.
    • (1985) Human Pathology , vol.16 , pp. 754-756
    • Nakamura, Y.1    Nakashima, H.2    Fukuda, S.3    Hashimoto, T.4    Maruyama, M.5
  • 40
    • 0025921769 scopus 로고
    • Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark
    • Nielsen, J. & Wohlert, M. (1991) Chromosome abnormalities found among 34, 910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Human Genetics, 87, 81-83.
    • (1991) Human Genetics , vol.87 , pp. 81-83
    • Nielsen, J.1    Wohlert, M.2
  • 43
    • 0017154470 scopus 로고
    • Trisomy 8 restricted to cultured fibroblasts
    • Niss, R. & Passarge, E. (1976) Trisomy 8 restricted to cultured fibroblasts. Journal of Medical Genetics, 13, 229-234.
    • (1976) Journal of Medical Genetics , vol.13 , pp. 229-234
    • Niss, R.1    Passarge, E.2
  • 44
    • 0027524856 scopus 로고
    • Cell lineage involvement in four patients with myelodysplastic syndrome and t(1;7) or trisomy 8 studied by simultaneous immunophenotyping and fluorescence in situ hybridization
    • Nylund, S.J., Verbeek, W., Larramendy, M.L., Ruutu, T., Heinonen, K., Hallman, H. & Knuutila, S. (1993) Cell lineage involvement in four patients with myelodysplastic syndrome and t(1;7) or trisomy 8 studied by simultaneous immunophenotyping and fluorescence in situ hybridization. Cancer Genetics and Cytogenetics, 70, 120-124.
    • (1993) Cancer Genetics and Cytogenetics , vol.70 , pp. 120-124
    • Nylund, S.J.1    Verbeek, W.2    Larramendy, M.L.3    Ruutu, T.4    Heinonen, K.5    Hallman, H.6    Knuutila, S.7
  • 45
    • 77956629287 scopus 로고    scopus 로고
    • Crosstalk between leukemia-associated proteins MOZ and MLL regulates HOX gene expression in human cord blood CD34+ cells
    • Paggetti, J., Largeot, A., Aucagne, R., Jacquel, A., Lagrange, B., Yang, X.J., Solary, E., Bastie, J.N. & Delva, L. (2010) Crosstalk between leukemia-associated proteins MOZ and MLL regulates HOX gene expression in human cord blood CD34+ cells. Oncogene, 29, 5019-5031.
    • (2010) Oncogene , vol.29 , pp. 5019-5031
    • Paggetti, J.1    Largeot, A.2    Aucagne, R.3    Jacquel, A.4    Lagrange, B.5    Yang, X.J.6    Solary, E.7    Bastie, J.N.8    Delva, L.9
  • 46
    • 0020957041 scopus 로고
    • Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection
    • Palmer, C.G., Provisor, A.J., Weaver, D.D., Hodes, M.E. & Heerema, N. (1983) Juvenile chronic granulocytic leukemia in a patient with trisomy 8, neurofibromatosis, and prolonged Epstein-Barr virus infection. Journal of Pediatrics, 102, 888-892.
    • (1983) Journal of Pediatrics , vol.102 , pp. 888-892
    • Palmer, C.G.1    Provisor, A.J.2    Weaver, D.D.3    Hodes, M.E.4    Heerema, N.5
  • 47
    • 33846853947 scopus 로고    scopus 로고
    • Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes
    • Paulsson, K. & Johansson, B. (2007) Trisomy 8 as the sole chromosomal aberration in acute myeloid leukemia and myelodysplastic syndromes. Pathologie Biologie, 55, 37-48.
    • (2007) Pathologie Biologie , vol.55 , pp. 37-48
    • Paulsson, K.1    Johansson, B.2
  • 48
  • 49
    • 0018086343 scopus 로고
    • Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12)
    • Riccardi, V.M., Humbert, J.R. & Peakman, D. (1978) Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46, XY, t(7;20)(p13;p12). American Journal of Medical Genetics, 2, 15-21.
    • (1978) American Journal of Medical Genetics , vol.2 , pp. 15-21
    • Riccardi, V.M.1    Humbert, J.R.2    Peakman, D.3
  • 50
    • 34347216380 scopus 로고    scopus 로고
    • Prognosis of acute myeloid leukemia patients up to 60years of age exhibiting trisomy 8 within a non-complex karyotype: individual patient data-based meta-analysis of the German Acute Myeloid Leukemia Intergroup
    • Schaich, M., Schlenk, R.F., Al Ali, H.K., Dohner, H., Ganser, A., Heil, G., Illmer, T., Krahl, R., Krauter, J., Sauerland, C., Buchner, T. & Ehninger, G. (2007) Prognosis of acute myeloid leukemia patients up to 60years of age exhibiting trisomy 8 within a non-complex karyotype: individual patient data-based meta-analysis of the German Acute Myeloid Leukemia Intergroup. Haematologica, 92, 763-770.
    • (2007) Haematologica , vol.92 , pp. 763-770
    • Schaich, M.1    Schlenk, R.F.2    Al Ali, H.K.3    Dohner, H.4    Ganser, A.5    Heil, G.6    Illmer, T.7    Krahl, R.8    Krauter, J.9    Sauerland, C.10    Buchner, T.11    Ehninger, G.12
  • 53
    • 76549092856 scopus 로고    scopus 로고
    • Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1
    • Steinemann, D., Arning, L., Praulich, I., Stuhrmann, M., Hasle, H., Stary, J., Schlegelberger, B., Niemeyer, C.M. & Flotho, C. (2010) Mitotic recombination and compound-heterozygous mutations are predominant NF1-inactivating mechanisms in children with juvenile myelomonocytic leukemia and neurofibromatosis type 1. Haematologica, 95, 320-323.
    • (2010) Haematologica , vol.95 , pp. 320-323
    • Steinemann, D.1    Arning, L.2    Praulich, I.3    Stuhrmann, M.4    Hasle, H.5    Stary, J.6    Schlegelberger, B.7    Niemeyer, C.M.8    Flotho, C.9
  • 54
    • 0027974256 scopus 로고
    • Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study
    • Stiller, C.A., Chessells, J.M. & Fitchett, M. (1994) Neurofibromatosis and childhood leukaemia/lymphoma: a population-based UKCCSG study. British Journal of Cancer, 70, 969-972.
    • (1994) British Journal of Cancer , vol.70 , pp. 969-972
    • Stiller, C.A.1    Chessells, J.M.2    Fitchett, M.3
  • 56
    • 0035115626 scopus 로고    scopus 로고
    • Acute monoblastic leukemia with t(8;16): a distinct clinicopathologic entity; report of a case and review of the literature
    • Sun, T. & Wu, E. (2001) Acute monoblastic leukemia with t(8;16): a distinct clinicopathologic entity; report of a case and review of the literature. American Journal of Hematology, 66, 207-212.
    • (2001) American Journal of Hematology , vol.66 , pp. 207-212
    • Sun, T.1    Wu, E.2
  • 61
    • 0029670049 scopus 로고    scopus 로고
    • The p21(RAS) farnesyltransferase alpha subunit in TGF-beta and activin signaling
    • Wang, T., Danielson, P.D., Li, B.Y., Shah, P.C., Kim, S.D. & Donahoe, P.K. (1996) The p21(RAS) farnesyltransferase alpha subunit in TGF-beta and activin signaling. Science, 271, 1120-1122.
    • (1996) Science , vol.271 , pp. 1120-1122
    • Wang, T.1    Danielson, P.D.2    Li, B.Y.3    Shah, P.C.4    Kim, S.D.5    Donahoe, P.K.6
  • 62
    • 1542351295 scopus 로고    scopus 로고
    • Constitutional chromosome aberrations as pathogenetic events in hematologic malignancies
    • Welborn, J. (2004) Constitutional chromosome aberrations as pathogenetic events in hematologic malignancies. Cancer Genetics and Cytogenetics, 149, 137-153.
    • (2004) Cancer Genetics and Cytogenetics , vol.149 , pp. 137-153
    • Welborn, J.1


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