메뉴 건너뛰기




Volumn 17, Issue 7, 2009, Pages 919-927

Type A microsatellite instability in pediatric gliomas as an indicator of Turcot syndrome

Author keywords

[No Author keywords available]

Indexed keywords

MISMATCH REPAIR PROTEIN PMS2; PROTEIN MLH1; PROTEIN MSH2; PROTEIN MSH6;

EID: 67649229012     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2008.271     Document Type: Article
Times cited : (27)

References (37)
  • 1
    • 78651120360 scopus 로고
    • Malignant tumors of the central nervous system associated with familial polyposis of the colon: Report of two cases
    • Turcot J, Despres JP, ST Pierre F: Malignant tumors of the central nervous system associated with familial polyposis of the colon: Report of two cases. Dis Colon Rectum 1959; 2: 465-468.
    • (1959) Dis Colon Rectum , vol.2 , pp. 465-468
    • Turcot, J.1    Despres, J.P.2    ST Pierre, F.3
  • 2
    • 0141890083 scopus 로고    scopus 로고
    • Hereditary nonpolyposis colorectal cancer and related conditions
    • Lucci-Cordisco E, Zito I, Gensini F, Genuardi M: Hereditary nonpolyposis colorectal cancer and related conditions. Am J Med Genet 2003; 122: 325-334.
    • (2003) Am J Med Genet , vol.122 , pp. 325-334
    • Lucci-Cordisco, E.1    Zito, I.2    Gensini, F.3    Genuardi, M.4
  • 3
  • 4
    • 0028970197 scopus 로고
    • The molecular basis of Turcot's syndrome
    • Hamilton SR, Liu B, Parsons RE et al: The molecular basis of Turcot's syndrome. N Engl J Med 1995; 332: 839-847.
    • (1995) N Engl J Med , vol.332 , pp. 839-847
    • Hamilton, S.R.1    Liu, B.2    Parsons, R.E.3
  • 5
    • 0030798827 scopus 로고    scopus 로고
    • Brain tumor-polyposis syndrome: Two genetic diseases?
    • van MeirTEG
    • Paraf F, Jothy S, van MeirTEG: Brain tumor-polyposis syndrome: two genetic diseases? J Clin Oncol 1997; 15: 2744-2758.
    • (1997) J Clin Oncol , vol.15 , pp. 2744-2758
    • Paraf, F.1    Jothy, S.2
  • 6
    • 0032534069 scopus 로고    scopus 로고
    • A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer
    • Boland CR, Thibodeau SN, Hamilton SR et al: A National Cancer Institute Workshop on microsatellite instability for cancer detection and familial predisposition: Development of international criteria for the determination of microsatellite instability in colorectal cancer. Cancer Res 1998; 58: 5248-5257.
    • (1998) Cancer Res , vol.58 , pp. 5248-5257
    • Boland, C.R.1    Thibodeau, S.N.2    Hamilton, S.R.3
  • 7
    • 0027314411 scopus 로고
    • Microsatellite instability in cancer of the proximal colon
    • Thibodeau SN, Bren G, Schaid D: Microsatellite instability in cancer of the proximal colon. Science 1993; 260: 816-819.
    • (1993) Science , vol.260 , pp. 816-819
    • Thibodeau, S.N.1    Bren, G.2    Schaid, D.3
  • 8
    • 20144376089 scopus 로고    scopus 로고
    • Two modes of microsatellite instability in human cancer: Differential connection of defective DNA mismatch repair to dinucleotide repeat instability
    • Oda S, Mashara Y, Ikeda Y et al: Two modes of microsatellite instability in human cancer: Differential connection of defective DNA mismatch repair to dinucleotide repeat instability. Nucleic Acids Res 2005; 33: 1628-1636.
    • (2005) Nucleic Acids Res , vol.33 , pp. 1628-1636
    • Oda, S.1    Mashara, Y.2    Ikeda, Y.3
  • 9
    • 0035266426 scopus 로고    scopus 로고
    • Microsatellite instability occurs in distinct subtypes of pediatric but not adult central nervous system tumors
    • Alonso M, Hamelin R, Kim M et al: Microsatellite instability occurs in distinct subtypes of pediatric but not adult central nervous system tumors. Cancer Res 2001; 61: 2124-2128.
    • (2001) Cancer Res , vol.61 , pp. 2124-2128
    • Alonso, M.1    Hamelin, R.2    Kim, M.3
  • 10
    • 0000240768 scopus 로고    scopus 로고
    • Microsatellite instability and mutation of DNA mismatch repair genes in gliomas
    • Leung SY, Chan TL, Chung LP et al: Microsatellite instability and mutation of DNA mismatch repair genes in gliomas. Am J Pathol 1998; 153: 1181-1188.
    • (1998) Am J Pathol , vol.153 , pp. 1181-1188
    • Leung, S.Y.1    Chan, T.L.2    Chung, L.P.3
  • 11
    • 0032745828 scopus 로고    scopus 로고
    • Genetic alterations in pediatric high-grade astrocytomas
    • Cheng Y, Ng HK, Zhang SF et al: Genetic alterations in pediatric high-grade astrocytomas. Hum Pathol 1999; 30: 1284-1290.
    • (1999) Hum Pathol , vol.30 , pp. 1284-1290
    • Cheng, Y.1    Ng, H.K.2    Zhang, S.F.3
  • 12
    • 0034673762 scopus 로고    scopus 로고
    • Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene
    • Kanamori M, Kon H, Nobukuni T et al: Microsatellite instability and the PTEN1 gene mutation in a subset of early onset gliomas carrying germline mutation or promoter methylation of the hMLH1 gene. Oncogene 2000; 19: 1564-1571.
    • (2000) Oncogene , vol.19 , pp. 1564-1571
    • Kanamori, M.1    Kon, H.2    Nobukuni, T.3
  • 13
    • 0038493880 scopus 로고    scopus 로고
    • Microsatellite instability and expression of DNA mismatch repair genes in malignant astrocytic tumors from adult and pediatric patients
    • Szybka M, Bartkowiak J, Zakrzewski K, Polis L, Liberski P, Kordek R: Microsatellite instability and expression of DNA mismatch repair genes in malignant astrocytic tumors from adult and pediatric patients. Clin Neuropathol 2003; 22: 180-186.
    • (2003) Clin Neuropathol , vol.22 , pp. 180-186
    • Szybka, M.1    Bartkowiak, J.2    Zakrzewski, K.3    Polis, L.4    Liberski, P.5    Kordek, R.6
  • 14
    • 33947528232 scopus 로고    scopus 로고
    • Microsatellite instability in pediatric and adult high-grade gliomas
    • Eckert A, Kloor M, Giersch A et al: Microsatellite instability in pediatric and adult high-grade gliomas. Brain Pathol 2007; 17 146-150.
    • (2007) Brain Pathol , vol.17 , pp. 146-150
    • Eckert, A.1    Kloor, M.2    Giersch, A.3
  • 16
    • 0037221952 scopus 로고    scopus 로고
    • Early onset brain tumor and lymphoma in MSH2-deficient children
    • Bougeard G, Charbonnier F, Moerman A et al: Early onset brain tumor and lymphoma in MSH2-deficient children. Am J Hum Genet 2003; 72: 213-216.
    • (2003) Am J Hum Genet , vol.72 , pp. 213-216
    • Bougeard, G.1    Charbonnier, F.2    Moerman, A.3
  • 17
    • 16544395180 scopus 로고    scopus 로고
    • A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer
    • Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ: A homozygous MSH6 mutation in a child with cafe-au-lait spots, oligodendroglioma and rectal cancer. Fam Cancer 2004; 3: 123-127.
    • (2004) Fam Cancer , vol.3 , pp. 123-127
    • Menko, F.H.1    Kaspers, G.L.2    Meijer, G.A.3    Claes, K.4    van Hagen, J.M.5    Gille, J.J.6
  • 18
    • 25644437125 scopus 로고    scopus 로고
    • Two PMS2 mutations in a Turcot syndrome family with small bowel cancers
    • Agostini M, Tibiletti MG, Lucci-Cordisco E et al: Two PMS2 mutations in a Turcot syndrome family with small bowel cancers. Am J Gastroenterol 2005; 100: 1886-1891.
    • (2005) Am J Gastroenterol , vol.100 , pp. 1886-1891
    • Agostini, M.1    Tibiletti, M.G.2    Lucci-Cordisco, E.3
  • 19
    • 27644596327 scopus 로고    scopus 로고
    • A homozygous mutation in MSH6 causes Turcot syndrome
    • Hegde MR, Chong B, Blazo ME et al: A homozygous mutation in MSH6 causes Turcot syndrome. Clin Cancer Res 2005; 11: 4689-4693.
    • (2005) Clin Cancer Res , vol.11 , pp. 4689-4693
    • Hegde, M.R.1    Chong, B.2    Blazo, M.E.3
  • 20
    • 0033017358 scopus 로고    scopus 로고
    • Testing tumors for microsatellite instability
    • de la Chapelle A: Testing tumors for microsatellite instability. Eur J Hum Genet 1999; 7: 407-408.
    • (1999) Eur J Hum Genet , vol.7 , pp. 407-408
    • de la Chapelle, A.1
  • 21
    • 33644819186 scopus 로고    scopus 로고
    • Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors
    • Buhard O, Cattaneo F, Wong YF et al: Multipopulation analysis of polymorphisms in five mononucleotide repeats used to determine the microsatellite instability status of human tumors. J Clin Oncol 2006; 24: 241-251.
    • (2006) J Clin Oncol , vol.24 , pp. 241-251
    • Buhard, O.1    Cattaneo, F.2    Wong, Y.F.3
  • 22
    • 29644441530 scopus 로고    scopus 로고
    • Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion
    • Pastrello C, Baglioni S, Tibiletti MG et al: Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. Eur J Hum Genet 2006; 14: 63-68.
    • (2006) Eur J Hum Genet , vol.14 , pp. 63-68
    • Pastrello, C.1    Baglioni, S.2    Tibiletti, M.G.3
  • 23
    • 0036893598 scopus 로고    scopus 로고
    • Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR
    • Suraweera N, Duval A, Reperant M et al: Evaluation of tumor microsatellite instability using five quasimonomorphic mononucleotide repeats and pentaplex PCR. Gastroenterology 2002; 123: 1804-1811.
    • (2002) Gastroenterology , vol.123 , pp. 1804-1811
    • Suraweera, N.1    Duval, A.2    Reperant, M.3
  • 24
    • 34547122001 scopus 로고    scopus 로고
    • The 2007 WHO classification of tumours of the central nervous system
    • Louis DN, Ohgaki H, Wiestler OD et al: The 2007 WHO classification of tumours of the central nervous system. Acta Neuropathol 2007; 114: 97-109.
    • (2007) Acta Neuropathol , vol.114 , pp. 97-109
    • Louis, D.N.1    Ohgaki, H.2    Wiestler, O.D.3
  • 25
    • 17944390807 scopus 로고    scopus 로고
    • Optimisation of DNA and RNA extraction from archival formalin-fixed tissue
    • Coombs NJ, Gough AC, Primrose JN: Optimisation of DNA and RNA extraction from archival formalin-fixed tissue. Nucleic Acids Res 1999; 27 e12.
    • (1999) Nucleic Acids Res , vol.27
    • Coombs, N.J.1    Gough, A.C.2    Primrose, J.N.3
  • 26
    • 33646372203 scopus 로고    scopus 로고
    • Long-range PCR facilitates the identification of PMS2-specific mutations
    • Clendenning M, Hampel H, LaJeunesse J et al: Long-range PCR facilitates the identification of PMS2-specific mutations. Hum Mutat 2006; 27: 490-495.
    • (2006) Hum Mutat , vol.27 , pp. 490-495
    • Clendenning, M.1    Hampel, H.2    LaJeunesse, J.3
  • 27
    • 0028362315 scopus 로고
    • Instability of short tandem repeats microsatellites in human cancers
    • Wooster R, Cleton-Jansen AM, Collins N et al: Instability of short tandem repeats microsatellites in human cancers. Nat Genet 1994; 6: 152-156.
    • (1994) Nat Genet , vol.6 , pp. 152-156
    • Wooster, R.1    Cleton-Jansen, A.M.2    Collins, N.3
  • 28
    • 0033161052 scopus 로고    scopus 로고
    • Patient survival and microsatellite instability in gliomas by high-resolution fluorescent analysis
    • Mizoguchi M, Inamura T, Ikezaki K et al: Patient survival and microsatellite instability in gliomas by high-resolution fluorescent analysis. Oncol Rep 1999; 6: 791-795.
    • (1999) Oncol Rep , vol.6 , pp. 791-795
    • Mizoguchi, M.1    Inamura, T.2    Ikezaki, K.3
  • 29
    • 4444339673 scopus 로고    scopus 로고
    • Molecular mechanisms associated with chromosomal and microsatellite instability in sporadic glioblastoma multiforme
    • Martinez R, Schackert HK, Plaschke J, Baretton G, Appelt H, Schackert G: Molecular mechanisms associated with chromosomal and microsatellite instability in sporadic glioblastoma multiforme. Oncology 2004; 66: 395-403.
    • (2004) Oncology , vol.66 , pp. 395-403
    • Martinez, R.1    Schackert, H.K.2    Plaschke, J.3    Baretton, G.4    Appelt, H.5    Schackert, G.6
  • 30
    • 34249677938 scopus 로고    scopus 로고
    • Wilms tumor and glioblastoma in a child with a double MLH1 germline mutation
    • Wagner A, Reddinguis R, Kros J et al: Wilms tumor and glioblastoma in a child with a double MLH1 germline mutation. Fam Cancer 2003; 1 (suppl.): 57.
    • (2003) Fam Cancer , vol.1 , Issue.SUPPL. , pp. 57
    • Wagner, A.1    Reddinguis, R.2    Kros, J.3
  • 31
    • 34249030956 scopus 로고    scopus 로고
    • Biallelic germline mutations of mismatch-repair genes
    • Poley J-W, Wagner A, Hoogmans MCP et al: Biallelic germline mutations of mismatch-repair genes. Cancer 2007; 109: 2349-2356.
    • (2007) Cancer , vol.109 , pp. 2349-2356
    • Poley, J.-W.1    Wagner, A.2    Hoogmans, M.C.P.3
  • 32
    • 0037086076 scopus 로고    scopus 로고
    • Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency
    • Duval A, Reperant M, Compoint A et al: Target gene mutation profile differs between gastrointestinal and endometrial tumors with mismatch repair deficiency. Cancer Res 2002; 62: 1609-1612.
    • (2002) Cancer Res , vol.62 , pp. 1609-1612
    • Duval, A.1    Reperant, M.2    Compoint, A.3
  • 33
    • 3142748325 scopus 로고    scopus 로고
    • Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation
    • Nakagawa H, Lockman JC, Frankel WL et al: Mismatch repair gene PMS2: Disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. Cancer Res 2004; 64: 4721-4727.
    • (2004) Cancer Res , vol.64 , pp. 4721-4727
    • Nakagawa, H.1    Lockman, J.C.2    Frankel, W.L.3
  • 34
    • 37549059947 scopus 로고    scopus 로고
    • Hypothesis: Possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects
    • Gottschling S, Reinhard H, Pagenstecher C et al: Hypothesis: possible role of retinoic acid therapy in patients with biallelic mismatch repair gene defects. Eur J Pediatr 2008; 167: 225-229.
    • (2008) Eur J Pediatr , vol.167 , pp. 225-229
    • Gottschling, S.1    Reinhard, H.2    Pagenstecher, C.3
  • 35
    • 39049084248 scopus 로고    scopus 로고
    • Familial T-cell nonHodgkin lymphoma caused by biallelic MSH2 mutations
    • Scott RH, Homfray T, Huxter NL et al: Familial T-cell nonHodgkin lymphoma caused by biallelic MSH2 mutations. J Med Genet 2007; 44: E83.
    • (2007) J Med Genet , vol.44
    • Scott, R.H.1    Homfray, T.2    Huxter, N.L.3
  • 36
    • 42349096088 scopus 로고    scopus 로고
    • Cafè-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2
    • Jackson CC, Holter S, Pollett A et al: Cafè-au-lait macules and pediatric malignancy caused by biallelic mutations in the DNA mismatch repair (MMR) gene PMS2. Pediatr Blood Cancer 2008; 50: 1268-1270.
    • (2008) Pediatr Blood Cancer , vol.50 , pp. 1268-1270
    • Jackson, C.C.1    Holter, S.2    Pollett, A.3
  • 37
    • 41849129585 scopus 로고    scopus 로고
    • Biallelic PMS2 mutations and a distinctive childhood cancer syndrome
    • Tan TY, Orme LM, Lynch E et al: Biallelic PMS2 mutations and a distinctive childhood cancer syndrome. J Pediatr Hematol Oncol 2008; 30: 254-257.
    • (2008) J Pediatr Hematol Oncol , vol.30 , pp. 254-257
    • Tan, T.Y.1    Orme, L.M.2    Lynch, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.