THE ROLE OF A CLINICAL GENETICIST IN THE DIAGNOSIS, TREATMENT AND PREVENTION OF CANCER IN PEDIATRIC PATIENTS

The urgency of the problem is due to the most important role of a clinical geneticist in the diagnosis of tumor-associated syndromes in children and adolescents, both at the stages of the intensive phase of treatment and after its completion. This is despite the fact that only a small proportion of patients with cancer receive a consultation with a clinical geneticist. The aim of this work was to evaluate the contribution of a clinical geneticist to the diagnosis, treatment and prevention of tumor diseases. Materials and methods. During the period from 2017 to 2020, 300 pediatric patients who underwent oncological disease and underwent rehabilitation at the Russian Field LRRC received a consultation with a clinical geneticist. Molecular analysis was performed by high-throughput sequencing on the NextSeq 500 Illumina platform and Sanger sequencing. Results. In the course of the clinical examination, the data of the family history, the patient's phenotype, data on the nature of the tumor process, the results of molecular diagnostics, the identification of onco-associated genes and the toxicity of anticancer therapy are analyzed. The authors present their own clinical observations of the development of malignant neoplasms in patients with neurofibromatosis. Conclusion. The presented results of clinical observations of children and adolescents at the stage of rehabilitation after the end of anticancer therapy demonstrate the effectiveness of the work of a clinical geneticist from the standpoint of diagnosing tumor-associated syndromes and the formation of prospects for preventing the development of second tumors.