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Abstract
Introduction. Tumors harboring BRAF V600 mutations demonstrate sensitivity to BRAF kinase inhibitors. Molecular genetic testing for this mutation represents an essential diagnostic component for cutaneous melanoma, colorectal, lung, and thyroid carcinomas, among other malignancies. Reported BRAF mutation frequencies In Russian cutaneous melanoma patients range from 28 to 60 %, suggesting substantial interlaboratory variability in testing procedures.
Aim. To assess the quality of BRAF mutation testing across various diagnostic laboratories.
Materials and Methods. A quality control panel comprised 15 melanoma samples with concordant BRAF status confirmed by two reference laboratories of the Russian Organization of Molecular Geneticists in Oncology and Oncohematology.
Results. The samples were distributed to 13 laboratories expressing preliminary interest in participation. Ten laboratories accepted the samples for analysis. Four demonstrated satisfactory performance: one laboratory achieved 100 % concordance, while three made a single testing error. No false-positive results were recorded. Primary reasons for unsatisfactory performance included failure to meet the predefined 2-week testing deadline (two laboratories), ≥ 2 false-negative results (three laboratories), and refusal to process >50 % of samples due to unavailable tumor dissection capabilities (one laboratory).
Conclusion. This initiative reveals significant quality variations in molecular genetic testing across laboratories, highlighting the need for further efforts to reduce diagnostic errors in mutation analysis.
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