The Recognition of Cavitary Retinoblastoma Tumors- Implications for Management and Genetic Analysis
Published On: November 23, 2020
The Chaudhry et al. study has assessed the role of consolidating adjuvant therapy and the phenotype-genotype correlation in patients with retinoblastomas having ophthalmoscopically visible cavities between 2004 and 2014 in whom 4 to 6 cycles of systemic chemotherapy were given. Eighteen eyes of 17 patients displayed cavitary retinoblastomas: 5 unilateral, and 12 bilateral. The cavities became visible in eight eyes (44%) and collapsed in eight eyes (44%). Germline mutations were detected in 14 patients of whom four demonstrated mosaicism (29%); only one had a low penetrant mutation. The study concludes that cavitary retinoblasto-mas can be detected after systemic chemotherapy with cavities becoming visible after mean two cycles of chemotherapy. There was no evident phenotype-genotype correlation with mosaicism noted in 29%.