N-MYC Amplification in Retinoblastoma
Author Information
Author(s): Lillington D M, Goff L K, Kingston J E, Onadim Z, Price E, Domizio P, Young B D
Primary Institution: Cancer Research UK, Department of Medical Oncology, St Bartholomew's and the Royal London NHS Trust
Hypothesis
Is high level amplification of N-MYC associated with adverse histology or outcome in primary retinoblastoma tumours?
Conclusion
High level amplification of N-MYC is not associated with adverse histology or outcome in retinoblastoma.
Supporting Evidence
- Three tumors showed high level amplification of N-MYC but had no adverse histological features.
- All patients with high N-MYC amplification are surviving at between 54 and 108 months post enucleation.
- Three tumors associated with metastasis showed normal N-MYC copy number.
Takeaway
This study looked at 25 eye tumors in children and found that having a lot of a certain gene (N-MYC) doesn't mean the tumors will be worse or that the kids will not survive.
Methodology
Real-time quantitative polymerase chain reaction was used to analyze the genomic copy number of the N-MYC gene in tumor samples.
Limitations
The study may not account for other genetic factors influencing tumor behavior.
Participant Demographics
The study involved children with primary retinoblastoma, including some with a family history of the disease.
Digital Object Identifier (DOI)
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