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Volumn 60, Issue 5, 2013, Pages 754-760

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome

Author keywords

Cancer predisposition; Copy number alteration; Pancreatic adenocarcinoma; Shwachman Diamond syndrome

Indexed keywords

BETA CATENIN; CYCLIN D1; PROTEIN MLH1; PROTEIN MSH2; PROTEIN P53; UVOMORULIN;

EID: 84874975172     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24453     Document Type: Article
Times cited : (21)

References (39)
  • 1
    • 0000785397 scopus 로고
    • The syndrome of pancreatic insufficiency and bone marrow dysfunction
    • Shwachman H. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 1964; 65: 645-663.
    • (1964) J Pediatr , vol.65 , pp. 645-663
    • Shwachman, H.1
  • 2
    • 0000951515 scopus 로고
    • Congenital hypoplasia of the exocrine pancreas
    • Bodian M, Sheldon W, Lightwood R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr 1964; 53: 282-293.
    • (1964) Acta Paediatr , vol.53 , pp. 282-293
    • Bodian, M.1    Sheldon, W.2    Lightwood, R.3
  • 3
    • 78651119423 scopus 로고
    • Lipomatous congenital hypoplasia of the exocrine pancreas in children (2 cases and review of the literature)
    • Nezelof C, Watchi M. Lipomatous congenital hypoplasia of the exocrine pancreas in children (2 cases and review of the literature). Arch Fr Pediatr 1961; 18: 1135-1172.
    • (1961) Arch Fr Pediatr , vol.18 , pp. 1135-1172
    • Nezelof, C.1    Watchi, M.2
  • 4
    • 79953742356 scopus 로고    scopus 로고
    • Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation
    • Hashmi SK, Allen C, Klaassen R, et al. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation. Clin Genet 2011; 79: 448-458.
    • (2011) Clin Genet , vol.79 , pp. 448-458
    • Hashmi, S.K.1    Allen, C.2    Klaassen, R.3
  • 5
    • 0029807493 scopus 로고    scopus 로고
    • Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression
    • Mack DR, Forstner GG, Wilschanski M, et al. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 1996; 111: 1593-1602.
    • (1996) Gastroenterology , vol.111 , pp. 1593-1602
    • Mack, D.R.1    Forstner, G.G.2    Wilschanski, M.3
  • 6
    • 0035071609 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7
    • Goobie S, Popovic M, Morrison J, et al. Shwachman-Diamond syndrome with exocrine pancreatic dysfunction and bone marrow failure maps to the centromeric region of chromosome 7. Am J Hum Genet 2001; 68: 1048-1054.
    • (2001) Am J Hum Genet , vol.68 , pp. 1048-1054
    • Goobie, S.1    Popovic, M.2    Morrison, J.3
  • 7
    • 40849145448 scopus 로고    scopus 로고
    • SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway
    • Rujkijyanont P, Watanabe K, Ambekar C, et al. SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway. Haematologica 2008; 93: 363-371.
    • (2008) Haematologica , vol.93 , pp. 363-371
    • Rujkijyanont, P.1    Watanabe, K.2    Ambekar, C.3
  • 8
    • 58949102825 scopus 로고    scopus 로고
    • SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane
    • Watanabe K, Ambekar C, Wang H, et al. SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane. Apoptosis 2009; 14: 77-89.
    • (2009) Apoptosis , vol.14 , pp. 77-89
    • Watanabe, K.1    Ambekar, C.2    Wang, H.3
  • 9
    • 34047182008 scopus 로고    scopus 로고
    • The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast
    • Menne TF, Goyenechea B, Sanchez-Puig N, et al. The Shwachman-Bodian-Diamond syndrome protein mediates translational activation of ribosomes in yeast. Nat Genet 2007; 39: 486-495.
    • (2007) Nat Genet , vol.39 , pp. 486-495
    • Menne, T.F.1    Goyenechea, B.2    Sanchez-Puig, N.3
  • 10
    • 27644511287 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome
    • Dror Y. Shwachman-Diamond syndrome. Pediatr Blood Cancer 2005; 45: 892-901.
    • (2005) Pediatr Blood Cancer , vol.45 , pp. 892-901
    • Dror, Y.1
  • 11
    • 19944430855 scopus 로고    scopus 로고
    • Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group
    • Donadieu J, Leblanc T, Bader Meunier B, et al. Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica 2005; 90: 45-53.
    • (2005) Haematologica , vol.90 , pp. 45-53
    • Donadieu, J.1    Leblanc, T.2    Bader Meunier, B.3
  • 12
    • 40549106508 scopus 로고    scopus 로고
    • Diagnosis, genetics, and management of inherited bone marrow failure syndromes
    • Alter BP. Diagnosis, genetics, and management of inherited bone marrow failure syndromes. Hematol Am Soc Hematol Educ Program 2007; 2007: 29-39.
    • (2007) Hematol Am Soc Hematol Educ Program , vol.2007 , pp. 29-39
    • Alter, B.P.1
  • 13
  • 14
    • 59049102893 scopus 로고    scopus 로고
    • Shwachman-Diamond syndrome: Implications for understanding the molecular basis of leukaemia
    • Dror Y. Shwachman-Diamond syndrome: Implications for understanding the molecular basis of leukaemia. Expert Rev Mol Med 2008; 10: e38.
    • (2008) Expert Rev Mol Med , vol.10
    • Dror, Y.1
  • 15
    • 33746363353 scopus 로고    scopus 로고
    • Structural variants: Changing the landscape of chromosomes and design of disease studies
    • Feuk L, Marshall CR, Wintle RF, et al. Structural variants: Changing the landscape of chromosomes and design of disease studies. Hum Mol Genet 2006; 15: R57-R66.
    • (2006) Hum Mol Genet , vol.15
    • Feuk, L.1    Marshall, C.R.2    Wintle, R.F.3
  • 16
    • 33751329250 scopus 로고    scopus 로고
    • Global variation in copy number in the human genome
    • Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-454.
    • (2006) Nature , vol.444 , pp. 444-454
    • Redon, R.1    Ishikawa, S.2    Fitch, K.R.3
  • 17
    • 33746741125 scopus 로고    scopus 로고
    • Copy number variation: New insights in genome diversity
    • Freeman JL, Perry GH, Feuk L, et al. Copy number variation: New insights in genome diversity. Genome Res 2006; 16: 949-961.
    • (2006) Genome Res , vol.16 , pp. 949-961
    • Freeman, J.L.1    Perry, G.H.2    Feuk, L.3
  • 18
    • 34247481333 scopus 로고    scopus 로고
    • Alpha-T-catenin (CTNNA3) displays tumour specific monoallelic expression in urothelial carcinoma of the bladder
    • Meehan M, Melvin A, Gallagher E, et al. Alpha-T-catenin (CTNNA3) displays tumour specific monoallelic expression in urothelial carcinoma of the bladder. Genes Chromosomes Cancer 2007; 46: 587-593.
    • (2007) Genes Chromosomes Cancer , vol.46 , pp. 587-593
    • Meehan, M.1    Melvin, A.2    Gallagher, E.3
  • 21
    • 80052859478 scopus 로고    scopus 로고
    • Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome
    • Sack JE, Kuchnir L, Demierre MF. Dermatofibrosarcoma protuberans arising in the context of Shwachman-Diamond syndrome. Pediatr Dermatol 2011; 28: 568-569.
    • (2011) Pediatr Dermatol , vol.28 , pp. 568-569
    • Sack, J.E.1    Kuchnir, L.2    Demierre, M.F.3
  • 22
    • 0028967358 scopus 로고
    • The risk of cancer among patients with cystic fibrosis. Cystic Fibrosis and Cancer Study Group
    • Neglia JP, FitzSimmons SC, Maisonneuve P, et al. The risk of cancer among patients with cystic fibrosis. Cystic Fibrosis and Cancer Study Group. N Engl J Med 1995; 332: 494-499.
    • (1995) N Engl J Med , vol.332 , pp. 494-499
    • Neglia, J.P.1    FitzSimmons, S.C.2    Maisonneuve, P.3
  • 23
    • 0036266409 scopus 로고    scopus 로고
    • Matrix metalloproteinase-7 is expressed by pancreatic cancer precursors and regulates acinar-to-ductal metaplasia in exocrine pancreas
    • Crawford HC, Scoggins CR, Washington MK, et al. Matrix metalloproteinase-7 is expressed by pancreatic cancer precursors and regulates acinar-to-ductal metaplasia in exocrine pancreas. J Clin Invest 2002; 109: 1437-1444.
    • (2002) J Clin Invest , vol.109 , pp. 1437-1444
    • Crawford, H.C.1    Scoggins, C.R.2    Washington, M.K.3
  • 24
    • 27744481287 scopus 로고    scopus 로고
    • Metaplasia in the pancreas
    • Lardon J, Bouwens L. Metaplasia in the pancreas. Differentiation 2005; 73: 278-286.
    • (2005) Differentiation , vol.73 , pp. 278-286
    • Lardon, J.1    Bouwens, L.2
  • 26
    • 48049102356 scopus 로고    scopus 로고
    • Nuclear E-cadherin immunoexpression: From biology to potential applications in diagnostic pathology
    • Chetty R, Serra S. Nuclear E-cadherin immunoexpression: From biology to potential applications in diagnostic pathology. Adv Anat Pathol 2008; 15: 234-240.
    • (2008) Adv Anat Pathol , vol.15 , pp. 234-240
    • Chetty, R.1    Serra, S.2
  • 27
    • 38949178861 scopus 로고    scopus 로고
    • Absence of E-cadherin expression distinguishes noncohesive from cohesive pancreatic cancer
    • Winter JM, Ting AH, Vilardell F, et al. Absence of E-cadherin expression distinguishes noncohesive from cohesive pancreatic cancer. Clin Cancer Res 2008; 14: 412-418.
    • (2008) Clin Cancer Res , vol.14 , pp. 412-418
    • Winter, J.M.1    Ting, A.H.2    Vilardell, F.3
  • 28
    • 80052316938 scopus 로고    scopus 로고
    • KRAS mutation in metastatic pancreatic ductal adenocarcinoma: Results of a multicenter phase II study evaluating efficacy of cetuximab plus gemcitabine/oxaliplatin (GEMOXCET) in first-line therapy
    • Kullmann F, Hartmann A, Stohr R, et al. KRAS mutation in metastatic pancreatic ductal adenocarcinoma: Results of a multicenter phase II study evaluating efficacy of cetuximab plus gemcitabine/oxaliplatin (GEMOXCET) in first-line therapy. Oncology 2011; 81: 3-8.
    • (2011) Oncology , vol.81 , pp. 3-8
    • Kullmann, F.1    Hartmann, A.2    Stohr, R.3
  • 29
    • 57549098807 scopus 로고    scopus 로고
    • The catalogue of somatic mutations in cancer (COSMIC)
    • Forbes SA, Bhamra G, Bamford S, Dawson E, et al. The catalogue of somatic mutations in cancer (COSMIC). Curr Protoc Hum Genet 2008; (Supplement 57): 10.11.1-10.11.26.
    • (2008) Curr Protoc Hum Genet , Issue.SUPPL. 57 , pp. 10111-101126
    • Forbes, S.A.1    Bhamra, G.2    Bamford, S.3    Dawson, E.4
  • 30
    • 33744725273 scopus 로고    scopus 로고
    • Molecular analysis of the EGFR-RAS-RAF pathway in pancreatic ductal adenocarcinomas: Lack of mutations in the BRAF and EGFR genes
    • Immervoll H, Hoem D, Kugarajh K, et al. Molecular analysis of the EGFR-RAS-RAF pathway in pancreatic ductal adenocarcinomas: Lack of mutations in the BRAF and EGFR genes. Virchows Archiv Int J Pathol 2006; 448: 788-796.
    • (2006) Virchows Archiv Int J Pathol , vol.448 , pp. 788-796
    • Immervoll, H.1    Hoem, D.2    Kugarajh, K.3
  • 32
    • 33745700257 scopus 로고    scopus 로고
    • Pancreatic adenocarcinoma-genetic portrait from chromosomes to microarrays
    • Karhu R, Mahlamaki E, Kallioniemi A. Pancreatic adenocarcinoma-genetic portrait from chromosomes to microarrays. Genes Chromosomes Cancer 2006; 45: 721-730.
    • (2006) Genes Chromosomes Cancer , vol.45 , pp. 721-730
    • Karhu, R.1    Mahlamaki, E.2    Kallioniemi, A.3
  • 33
    • 79953117045 scopus 로고    scopus 로고
    • Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells
    • Dutt S, Narla A, Lin K, et al. Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells. Blood 2011; 117: 2567-2576.
    • (2011) Blood , vol.117 , pp. 2567-2576
    • Dutt, S.1    Narla, A.2    Lin, K.3
  • 34
    • 84863625900 scopus 로고    scopus 로고
    • Bone marrow failure in fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells
    • Ceccaldi R, Parmar K, Mouly E, et al. Bone marrow failure in fanconi anemia is triggered by an exacerbated p53/p21 DNA damage response that impairs hematopoietic stem and progenitor cells. Cell Stem Cell 2012; 11: 36-49.
    • (2012) Cell Stem Cell , vol.11 , pp. 36-49
    • Ceccaldi, R.1    Parmar, K.2    Mouly, E.3
  • 35
    • 30144442771 scopus 로고    scopus 로고
    • Common fragile sites, extremely large genes, neural development and cancer
    • Smith DI, Zhu Y, McAvoy S, et al. Common fragile sites, extremely large genes, neural development and cancer. Cancer Lett 2006; 232: 48-57.
    • (2006) Cancer Lett , vol.232 , pp. 48-57
    • Smith, D.I.1    Zhu, Y.2    McAvoy, S.3
  • 36
    • 84867347114 scopus 로고    scopus 로고
    • Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing
    • Liang WS, Craig DW, Carpten J, et al. Genome-wide characterization of pancreatic adenocarcinoma patients using next generation sequencing. PLoS ONE 2012; 7: 1-20, e43192.
    • (2012) PLoS ONE , vol.7
    • Liang, W.S.1    Craig, D.W.2    Carpten, J.3
  • 37
    • 0041409801 scopus 로고    scopus 로고
    • Relationship between expressions of E-cadherin and alpha-catenin and biological behaviors of human pancreatic cancer
    • Li YJ, Meng YX, Ji XR. Relationship between expressions of E-cadherin and alpha-catenin and biological behaviors of human pancreatic cancer. Hepatobiliary Pancreat Dis Int 2003; 2: 471-477.
    • (2003) Hepatobiliary Pancreat Dis Int , vol.2 , pp. 471-477
    • Li, Y.J.1    Meng, Y.X.2    Ji, X.R.3
  • 38
    • 58149126011 scopus 로고    scopus 로고
    • Galectin-9 suppresses tumor metastasis by blocking adhesion to endothelium and extracellular matrices
    • Nobumoto A, Nagahara K, Oomizu S, et al. Galectin-9 suppresses tumor metastasis by blocking adhesion to endothelium and extracellular matrices. Glycobiology 2008; 18: 735-744.
    • (2008) Glycobiology , vol.18 , pp. 735-744
    • Nobumoto, A.1    Nagahara, K.2    Oomizu, S.3
  • 39
    • 40549109626 scopus 로고    scopus 로고
    • Bone marrow failure as a risk factor for clonal evolution: Prospects for leukemia prevention
    • Bagby GC, Meyers G. Bone marrow failure as a risk factor for clonal evolution: Prospects for leukemia prevention. Hematol Am Soc Hematol Educ Program 2007; 2007: 40-46.
    • (2007) Hematol Am Soc Hematol Educ Program , vol.2007 , pp. 40-46
    • Bagby, G.C.1    Meyers, G.2


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