Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach (Articolo in rivista)

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  • Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach (Articolo in rivista) (literal)
Anno
  • 2005-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1038/sj.onc.1208630 (literal)
Alternative label
  • Tosi G.M.; Trimarchi C.; Macaluso M.; La Sala D.; Ciccodicola A.; Lazzi S.; Masssaro M.; Giordano M.; Caporossi A.; Giordano A.; Citti C. (2005)
    Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach
    in Oncogene (Basingstoke)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Tosi G.M.; Trimarchi C.; Macaluso M.; La Sala D.; Ciccodicola A.; Lazzi S.; Masssaro M.; Giordano M.; Caporossi A.; Giordano A.; Citti C. (literal)
Pagina inizio
  • 5827 (literal)
Pagina fine
  • 5836 (literal)
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  • 24 (literal)
Rivista
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  • In: \"Oncogene\",24 2005,38,5827-5836 (literal)
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  • 10 (literal)
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  • 38 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Univ Siena, CNR, IFC,Pathol Anat Unit, Inst Clin Physiol,Dept Human Pathol & Oncol, I-53100 Siena, Italy CNR, Inst Clin Physiol, Siena, Italy CNR, Inst Genet & Biophys, Naples, Italy Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA Temple Univ, Sbarro Inst Canc Res & Mol Med, Philadelphia, PA 19122 USA CNR, Inst Neurosci, I-56100 Pisa, Italy Univ Siena, Dept Ophthalmol & Neurosurg, I-53100 Siena, Italy (literal)
Titolo
  • Genetic and epigenetic alterations of RB2/P130 tumor suppressor gene in human sporadic retinoplastoma: implications for pathogenesis and therapeutic approach (literal)
Abstract
  • Human retinoblastoma occurs in two forms (familial and sporadic) both due to biallelic mutation of the RB1/p105 gene even if its loss is insufficient for malignancy. We have recently reported that loss of expression of the retinoblastoma-related protein pRb2/p130 correlates with low apoptotic index, suggesting that RB2/p130 gene could be involved in retinoblastoma. Mutational analysis of RB2/p130 in primary tumors showed a tight correlation between Exon 1 mutations and pRb2/p130 expression level in sporadic retinoblastoma. These mutations are located within a CpG-enriched region prone to de novo methylation. Analysis of RB2/p130 methylation status revealed that epigenetic events, most probably consequent to the Exon 1 mutations, determined the observed phenotype. Treatment of Weri-Rb1 cell line by 5-Aza-dC induced an increase in expression level of pRb2/p130, E2F1, p73 and p53. Overall, our results highlight a crucial role of epigenetic events in sporadic retinoblastoma, which opens a perspective for new therapeutic approaches. (literal)
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