October 1996
Volume 37, Issue 11
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Articles  |   October 1996
Identification of mutations in the Ki-ras gene in human retinoblastoma.
Author Affiliations
  • D Bautista
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
  • J R Emanuel
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
  • C Granville
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
  • R Howard
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
  • J Costa
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
Investigative Ophthalmology & Visual Science October 1996, Vol.37, 2313-2317. doi:
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    • Get Citation

      D Bautista, J R Emanuel, C Granville, R Howard, J Costa; Identification of mutations in the Ki-ras gene in human retinoblastoma.. Invest. Ophthalmol. Vis. Sci. 1996;37(11):2313-2317.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

PURPOSE: To investigate the mutational status of the Ki-ras gene in retinoblastoma and to evaluate a correlation of the genotype with clinical and histopathologic variables. METHODS: Tumor samples were microdissected from sectioned archival paraffin-embedded tissue. Ki-ras genomic sequences (exons 1 and 2) were amplified by polymerase chain reaction then analyzed by single-strand conformation polymorphism and direct sequencing. Tissue sections, flanking the analyzed samples, were stained with hematoxylin and eosin for examination by light microscopy. RESULTS: Four of 12 tumors had mutation in exon 1, codon 12 of the Ki-ras gene; none had mutation in exon 2. Signal intensity of the mutated alleles indicates clonal mutation in the tumor cell populations. One of four bilateral tumors was mutated, and all three samples with undifferentiated histologic appearance harbored a clonal Ki-ras mutation. However, only one of nine moderately to poorly differentiated tumors harbored a mutation. CONCLUSIONS: Ki-ras, an oncogene seldom altered in neuroectodermal neoplasms, is mutated in one third of the retinoblastomas studied. The Ki-ras mutations are clonal, suggesting that affected cells have a selective growth advantage. The mutations are present and are likely to play a pathogenetic role in heritable and sporadic retinoblastomas. These results suggest that mutations in Ki-ras are preferentially associated with undifferentiated tumors.

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