메뉴 건너뛰기




Volumn 61, Issue 2, 2014, Pages 383-386

Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma

Author keywords

CREBBP; Medulloblastoma; Predisposition; Rubinstein Taybi syndrome

Indexed keywords

BETA CATENIN; CREBBP PROTEIN; FILAMIN A; MYC PROTEIN; SONIC HEDGEHOG PROTEIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG; WNT PROTEIN;

EID: 84890887934     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.24765     Document Type: Article
Times cited : (37)

References (21)
  • 1
    • 79955034739 scopus 로고    scopus 로고
    • Medulloblastoma comprises four distinct molecular variants
    • Northcott PA, Korshunov A, Witt H, et al. Medulloblastoma comprises four distinct molecular variants. J Clin Oncol 2011; 29:1408-1414.
    • (2011) J Clin Oncol , vol.29 , pp. 1408-1414
    • Northcott, P.A.1    Korshunov, A.2    Witt, H.3
  • 2
    • 84863393028 scopus 로고    scopus 로고
    • Molecular subgroups of medulloblastoma: An international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas
    • Kool M, Korshunov A, Remke M, et al. Molecular subgroups of medulloblastoma: An international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas. Acta Neuropathol 2012; 123:473-484.
    • (2012) Acta Neuropathol , vol.123 , pp. 473-484
    • Kool, M.1    Korshunov, A.2    Remke, M.3
  • 3
    • 84864444165 scopus 로고    scopus 로고
    • Novel mutations target distinct subgroups of medulloblastoma
    • Robinson G, Parker M, Kranenburg TA, et al. Novel mutations target distinct subgroups of medulloblastoma. Nature 2012; 488:43-48.
    • (2012) Nature , vol.488 , pp. 43-48
    • Robinson, G.1    Parker, M.2    Kranenburg, T.A.3
  • 4
    • 84864419974 scopus 로고    scopus 로고
    • Dissecting the genomic complexity underlying medulloblastoma
    • Jones DT, Jäger N, Kool M, et al. Dissecting the genomic complexity underlying medulloblastoma. Nature 2012; 488:100-105.
    • (2012) Nature , vol.488 , pp. 100-105
    • Jones, D.T.1    Jäger, N.2    Kool, M.3
  • 5
    • 84864492215 scopus 로고    scopus 로고
    • Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations
    • Pugh TJ, Weeraratne SD, Archer TC, et al. Medulloblastoma exome sequencing uncovers subtype-specific somatic mutations. Nature 2012; 488:106-110.
    • (2012) Nature , vol.488 , pp. 106-110
    • Pugh, T.J.1    Weeraratne, S.D.2    Archer, T.C.3
  • 6
    • 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
  • 7
    • 0036648241 scopus 로고    scopus 로고
    • Mutations in SUFU predispose to medulloblastoma
    • Taylor MD, Liu L, Raffel C, et al. Mutations in SUFU predispose to medulloblastoma. Nat Genet 2002; 31:306-310.
    • (2002) Nat Genet , vol.31 , pp. 306-310
    • Taylor, M.D.1    Liu, L.2    Raffel, C.3
  • 8
    • 84863979877 scopus 로고    scopus 로고
    • High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age
    • Brugières L, Remenieras A, Pierron G, et al. High frequency of germline SUFU mutations in children with desmoplastic/nodular medulloblastoma younger than 3 years of age. J Clin Oncol 2012; 30:2087-2093.
    • (2012) J Clin Oncol , vol.30 , pp. 2087-2093
    • Brugières, L.1    Remenieras, A.2    Pierron, G.3
  • 9
    • 84862907577 scopus 로고    scopus 로고
    • Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations
    • Rausch T, Jones DT, Zapatka M, et al. Genome sequencing of pediatric medulloblastoma links catastrophic DNA rearrangements with TP53 mutations. Cell 2012; 148:59-71.
    • (2012) Cell , vol.148 , pp. 59-71
    • Rausch, T.1    Jones, D.T.2    Zapatka, M.3
  • 10
    • 84872922578 scopus 로고    scopus 로고
    • FGF receptors germline mutations and medulloblastomas
    • Bourdeaut F, Miquel C, Di Rocco F, et al. FGF receptors germline mutations and medulloblastomas. Am J Med Genet 2013; 161A:382-385.
    • (2013) Am J Med Genet , vol.161 A , pp. 382-385
    • Bourdeaut, F.1    Miquel, C.2    Di Rocco, F.3
  • 11
    • 65849356587 scopus 로고    scopus 로고
    • Beta-catenin status in paediatric medulloblastomas: Correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics
    • Fattet S, Haberler C, Legoix P, et al. Beta-catenin status in paediatric medulloblastomas: Correlation of immunohistochemical expression with mutational status, genetic profiles, and clinical characteristics. J Pathol 2009; 218:86-94.
    • (2009) J Pathol , vol.218 , pp. 86-94
    • Fattet, S.1    Haberler, C.2    Legoix, P.3
  • 12
    • 79954444747 scopus 로고    scopus 로고
    • Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups
    • Ellison DW, Dalton J, Kocak M, et al. Medulloblastoma: Clinicopathological correlates of SHH, WNT, and non-SHH/WNT molecular subgroups. Acta Neuropathol 2011; 121:381-396.
    • (2011) Acta Neuropathol , vol.121 , pp. 381-396
    • Ellison, D.W.1    Dalton, J.2    Kocak, M.3
  • 13
    • 35548930805 scopus 로고    scopus 로고
    • High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints
    • Gervasini C, Castronovo P, Bentivegna A, et al. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics 2007; 90:567-573.
    • (2007) Genomics , vol.90 , pp. 567-573
    • Gervasini, C.1    Castronovo, P.2    Bentivegna, A.3
  • 14
    • 0028816996 scopus 로고
    • Tumors in Rubinstein-Taybi syndrome
    • Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 1995; 56:112-115.
    • (1995) Am J Med Genet , vol.56 , pp. 112-115
    • Miller, R.W.1    Rubinstein, J.H.2
  • 15
    • 0027325341 scopus 로고
    • Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma
    • Evans G, Burnell L, Campbell R, et al. Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma. Med Pediatr Oncol 1993; 21:433-434.
    • (1993) Med Pediatr Oncol , vol.21 , pp. 433-434
    • Evans, G.1    Burnell, L.2    Campbell, R.3
  • 16
    • 0030592912 scopus 로고    scopus 로고
    • Medulloblastoma in patient with Rubinstein-Taybi syndrome
    • Skousen GJ, Wardinsky T, Chenaille P. Medulloblastoma in patient with Rubinstein-Taybi syndrome. Am J Med Genet 1996; 66:367.
    • (1996) Am J Med Genet , vol.66 , pp. 367
    • Skousen, G.J.1    Wardinsky, T.2    Chenaille, P.3
  • 17
    • 0035655164 scopus 로고    scopus 로고
    • Medulloblastoma in a child with Rubenstein-Taybi syndrome: Case report and review of the literature
    • Taylor MD, Mainprize TG, Rutka JT, et al. Medulloblastoma in a child with Rubenstein-Taybi syndrome: Case report and review of the literature. Pediatr Neurosurg 2001; 35:235-238.
    • (2001) Pediatr Neurosurg , vol.35 , pp. 235-238
    • Taylor, M.D.1    Mainprize, T.G.2    Rutka, J.T.3
  • 18
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG. Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci USA 1971; 68:820-823.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 820-823
    • Knudson, A.G.1
  • 19
    • 84862776537 scopus 로고    scopus 로고
    • Clonal selection drives genetic divergence of metastatic medulloblastoma
    • Wu X, Northcott PA, Dubuc A, et al. Clonal selection drives genetic divergence of metastatic medulloblastoma. Nature 2012; 482:529-533.
    • (2012) Nature , vol.482 , pp. 529-533
    • Wu, X.1    Northcott, P.A.2    Dubuc, A.3
  • 20
    • 79951934386 scopus 로고    scopus 로고
    • TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma
    • Pfaff E, Remke M, Sturm D, et al. TP53 mutation is frequently associated with CTNNB1 mutation or MYCN amplification and is compatible with long-term survival in medulloblastoma. J Clin Oncol 2010; 28:5188-5196.
    • (2010) J Clin Oncol , vol.28 , pp. 5188-5196
    • Pfaff, E.1    Remke, M.2    Sturm, D.3
  • 21
    • 79955020755 scopus 로고    scopus 로고
    • TP53 mutations in favorable-risk Wnt/Wingless-subtype medulloblastomas
    • Lindsey JC, Hill RM, Megahed H, et al. TP53 mutations in favorable-risk Wnt/Wingless-subtype medulloblastomas. J Clin Oncol 2011; 29:344-346.
    • (2011) J Clin Oncol , vol.29 , pp. 344-346
    • Lindsey, J.C.1    Hill, R.M.2    Megahed, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.