Arkhiv patologii · 2014
[First Russian nationwide molecular epidemiological study for melanoma: results of BRAF mutation analysis].
СтатьяНазвание и аннотация: Оригинал на русском
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Frank G A, Zavalishina L E, Kekeeva T V, Aleksakhina S N, Garifullina T R, Ivantsov O A, Mitiushkina N V, Pfaifer V, Strelkova T N, Imianitova E N
Аннотация
This report presents the initial results of the first Russian molecular epidemiological study of melanoma. The investigation included 1035 patients with stage IIIB-IV melanoma residing in various regions of Russia. Sequencing of BRAF gene revealed mutation in 627 (60.6%) tumors; c.1799T > A (p.V600E) substitution was detected in 563 cases, and other mutations in 64 melanomas. Frequency of BRAF alterations was significantly higher in patients of younger age (< 50 years: 72.9%; > or = 50 years: 57.1%; p = 0.00003). 710 melanomas included in the study were located in sun non-exposed regions of the skin; this category of tumors was characterized by the highest occurrence of BRAF mutations (63.9%). In conclusion, more than a half of Russian patients with advanced melanoma are potential candidates for the treatment of kinase inhibitors of mutated BRAF.