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Hum Pathol. 2008 Aug;39(8):1172-5. doi: 10.1016/j.humpath.2007.12.008. Epub 2008 Jun 5.

N-myc amplification was rarely detected by fluorescence in situ hybridization in retinoblastoma.

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Department of Ophthalmology, College of Medicine, Seoul National University, 110-744 Seoul, South Korea.


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. This study was prospectively derived from 26 patients who were diagnosed as having unilateral retinoblastoma (highly progressive large retinoblastoma, group 5 in Reese-Ellsworth classification) and underwent enucleation. We performed locus-specific fluorescence in situ hybridization probes for N-myc gene. Our results demonstrated that in only one of 26 patients was N-myc amplification found in retinoblastoma tissue. 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 amplification is not frequently found in retinoblastoma.

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