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J. Choi, Y. S. Yu, J. Kim, D. Kim; N-myc Amplification Was Rarely Detected by Fluorescein in situ Hybridization in Retinoblastoma. Invest. Ophthalmol. Vis. Sci. 2007;48(13):1596.
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In retinoblastoma, genetic alteration of N-myc amplification different from the alteration of the RB1 gene on chromosome 13q14 has been described. This study is to determine the frequency of N-myc amplification by fluorescence in situ hybridization method in retinoblastoma
The study was prospectively derived from 25 patients who were diagnosed as retinoblastoma (highly progressive retinoblastoma, group 5 in Reese-Ellsworth classification) and went to enucleation. H& E staining was done for pathological examination. Locus specific fluorescence in situ hybridization probes for N-myc gene was used and hundred interphase nuclei were analyzed based on their fluorescence phenotype.
Although poorly differentiated tumor cells were observed over tumors in all eyes, N-myc amplification was found in only one retinoblastoma.
N-myc amplification has been regarded as one characteristic of retinoblastoma cell line and an adverse prognostic factor. However, our study indicates that N-myc mutations is not frequently found in retinoblastoma.
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