Detection of mutations in the BRAF in patients with melanoma in routine clinical practice: Survey results

Background. According to current clinical guidelines, patients with inoperable and/or metastatic melanoma (IMM) should undergo a molecular genetic study for the presence of mutations in the BRAF V600 gene in order to select drug therapy. Its accessibility and timing may vary in the regions of Russia.

Aim. To assess the possibility, accessibility, and timing of a molecular genetic study for melanoma in Russia.

Results. From November 15, 2023, to December 11, 2023, a survey was conducted, which included 32 respondents (oncologists and heads of depart- ments/laboratories) from various federal districts, where 1 to 1000 IMM patients are being diagnosed and treated annually. A mutation in the BRAF gene was detected in 79,1% of patients. The duration of the study was about 15 (3-35) days. The mutations were detected in a local institution in 60% of cases, within the Russian Society of Clinical Oncology diagnostic program in 21,1%, and in other programs in 18,9%.

Conclusion. The wide accessibility of the detection of BRAF gene mutations in the Russian Federation was reported due to the following factors: the introduction of molecular genetic diagnostics programs, in particular the Russian Society of Clinical Oncology program, as well as other programs sponsored by pharmaceutical companies and the possibility of testing under a compulsory health insurance policy. However, approximately 21% (20,9%) of patients with IMM do not test for mutations in the BRAF gene, even if they have their own laboratory in the institution. It is crucial to test all patients with melanoma from stage III onwards for BRAF mutations, especially when treatment is started with immunotherapy and there is enough time for the BRAF mutation result to be routinely obtained.