RESUMO
Retinoblastoma (RB) is the most common malignant intraocular tumor in children. In the last decade, basic research has led to a better understanding of events after two hits in RB susceptibility gene (RB1), molecular mechanism of tumor growth, the cell of origin of RB, etc. This would pave way to identify biomarkers and molecular targeted therapy for better treatment option in the future. Furthermore, improvement in molecular techniques has led to enhanced diagnostic methods for early diagnosis, genetic counseling, and prevention of the disease. This review will help to understand the essence of basic research work conducted in recent times and its implication in the management of RB in the future.
RESUMO
BACKGROUND: Genetic analysis has a beneficial impact on retinoblastoma management enabling definite risk assessment. However, information regarding genotype-phenotype correlation in retinoblastoma is limited. AIM: To analyze the retinoblastoma susceptibility gene for mutations in retinoblastoma patients and correlate the genotypes the phenotypes. METHODOLOGY: Eleven retinoblastoma patients, who underwent molecular genetic studies were classified into high, moderate or low disease severity groups based on phenotype. RESULTS: Seven patients had high disease severity and four moderate disease severity. Eleven truncating mutations were detected; six were in the N-terminus region of the retinoblastoma protein and two in the A/B pocket (p=0.03). CONCLUSIONS: No significant association between mutation type and disease severity could be established in the present study. However a positive correlation between location of the mutations in certain domains of the retinoblastoma protein and disease severity was observed. To the best of our knowledge this is the first genotype-phenotype correlation study in retinoblastoma patients from India.