Features of molecular genetic diagnosis of retinoblastoma

Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.