The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.

Purpose: To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.

Methods: The patient underwent an ultrasound study, followed by enucleation of the left eye.

Analysis of the p53 pathway in peripheral blood of retinoblastoma patients; potential biomarkers.

Loss of retinoblastoma (RB) function in the cone cells during retina development is necessary but not sufficient for retinoblastoma development. It has been reported that in the absence of RB activity, a retinoma is generated, and the onset of retina cancer occurs until the p53 pathway is altered. Unlike other types of cancer, in retinoblastoma the p53 tumour suppressor is mostly wild type, although its two primary regulators, MDMX and MDM2, are commonly dysregulated.