The results of the use of new medical technology for comprehensive DNA analysis in retinoblastoma

Abstract

We performed a comprehensive molecular genetic examination of patients with retinoblastoma. For establish molecular diagnosis of the disease, we applied a set of new medical technologies, including targeted high-throughput parallel DNA sequencing (NGS) and multiplex ligation probe amplification (MLPA). Search for point mutations and small indels in RB1 gene was carried out with next generation sequencing on the Ion Torrent PGM. To detect extended deletions in the RB1 gene MLPA method was used. In a group of patients with a bilateral form of the disease, mutations in the RB1 gene were detected in 96.4% of cases. In a sample of patients with a unilateral form of the disease, genetic abnormalities were found in 31.7% of patients. MLPA technique has allowed us to identify somatic deletions in the RB1 gene in tumors of 47.6% patients and germline deletions in 4.4% patients.