Turk J Med Sci. 2018 Oct 31;48(5):973-979. doi: 10.3906/sag-1802-80.
Background/aim: Malignant melanoma is the most common cause of death due to skin cancers. The most common mutations in RAFRAS pathway from tumor oncogenes are BRAF and NRAS. In this study, we analyzed the frequency of BRAF and NRAS gene mutations and investigated their association with clinicopathological features of melanomas in the Turkish population. Materials and methods: 65 primary cutaneous melanoma were included in the study. The mutations were evaluated with real-time PCRbased PCR-array through allele-specific amplification, and the results were correlated with various clinicopathological characteristics. Results: 52.3% of the patients were female and 47.7% were male. The mean age of the patients with a mutation was lower than those without mutation. 16 patients had BRAF mutation. 12 patients had NRAS mutation. NRAS mutation was statistically more common in men (P = 0.036). The number of mitoses increased with the increase of the tumor thickness (P = 0.003). There was more mitosis in the presence of ulceration (P = 0.05). A total of 41.7% of NRAS mutations had adjuvant chemotherapy. Conclusion: We found lower mutation rate when compared to regional studies. NRAS mutation was common in men. This is the first study from our region evaluating the prognostic value of clinical stage and necessity of adjuvant treatment with the presence of BRAF and NRAS mutations.
背景/目的：恶性黑色素瘤是皮肤癌中导致死亡的最常见原因。RAFRAS 通路中的肿瘤致癌基因最常见的突变是 BRAF 和 NRAS。在本研究中，我们分析了 BRAF 和 NRAS 基因突变的频率，并研究了它们与土耳其人群黑色素瘤的临床病理特征的关系。
本研究纳入了 65 例原发性皮肤黑色素瘤。通过等位基因特异性扩增的实时 PCR 基于 PCR-array 评估突变，并将结果与各种临床病理特征相关联。
52.3%的患者为女性，47.7%为男性。有突变的患者的平均年龄低于无突变的患者。16 例患者有 BRAF 突变。12 例患者有 NRAS 突变。NRAS 突变在男性中更为常见（P = 0.036）。有丝分裂的数量随着肿瘤厚度的增加而增加（P = 0.003）。溃疡存在时，有丝分裂更多（P = 0.05）。共有 41.7%的 NRAS 突变患者接受了辅助化疗。
与区域研究相比，我们发现突变率较低。NRAS 突变在男性中较为常见。这是我们地区首次评估 BRAF 和 NRAS 突变存在时临床分期的预后价值和辅助治疗的必要性的研究。
