Division of Surgical Oncology, Department of Surgery, Dr Sardjito Hospital / Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada, Yogyakarta 55281, Indonesia.
Department of Pathological Anatomy, Dr Sardjito Hospital / Faculty of Medicine, Public Health, and Nursing Universitas Gadjah Mada, Yogyakarta 55281, Indonesia.
Asian Pac J Cancer Prev. 2024 Oct 1;25(10):3525-3531. doi: 10.31557/APJCP.2024.25.10.3525.
Melanomas are rare yet the most aggressive skin cancer among Asians. Clinical presentation, risk factors, and the underlying molecular mechanisms are strikingly different from cutaneous melanoma in Caucasians.
Mutation patterns of BRAF and NRAS genes were examined from DNAs derived from primary melanoma tumor tissues (fresh tissues or formalin-fixed paraffin-embedded samples) using pyrosequencing.
A total of 63 patients consisting of acral lentiginous melanoma (N=22, 34.9%) and nodular melanoma (N=41, 65.1%) were included in this study. Most patients were diagnosed at Stage III-IV (N=49, 77.8%), Breslow thickness more than 4 mm (N=51, 80.9%), presence of ulceration (N=35, 55.6%), diameter larger than 6 mm (N=61, 96.8%), regional node infiltration (N=41, 77.8%). BRAF and NRAS mutations were found in 28 (44.4%) and 8 (12.7%), respectively. BRAF and NRAS mutations were significantly associated with older melanoma patients (OR = 6.075, 95%CI = 2.013-18.333 dan OR = 13.263, 95%CI = 1.518-115.901, respectively). BRAF mutations were associated with lower overall survival (Median survivals were 16.5 vs 31.4 months, Log-rank test P=0.001). NRAS mutations were not significantly associated with lower overall survival.
In this study, melanoma patients are largely diagnosed at the late stages with ulceration and involvement of regional lymph nodes. BRAF mutations are associated with lower survival of cutaneous melanoma patients.
黑色素瘤在亚洲人群中较为罕见，但却是最具侵袭性的皮肤癌。其临床表现、危险因素和潜在的分子机制与白种人的皮肤黑色素瘤有显著差异。
使用焦磷酸测序法，从原发性黑色素瘤肿瘤组织（新鲜组织或福尔马林固定石蜡包埋样本）的 DNA 中检测 BRAF 和 NRAS 基因突变。
本研究共纳入 63 例患者，包括肢端黑色素瘤（N=22，34.9%）和结节性黑色素瘤（N=41，65.1%）。大多数患者处于 III-IV 期（N=49，77.8%），Breslow 厚度大于 4mm（N=51，80.9%），溃疡（N=35，55.6%），直径大于 6mm（N=61，96.8%），区域淋巴结浸润（N=41，77.8%）。发现 28 例（44.4%）存在 BRAF 突变，8 例（12.7%）存在 NRAS 突变。BRAF 和 NRAS 突变与黑色素瘤患者年龄较大显著相关（OR=6.075，95%CI=2.013-18.333 和 OR=13.263，95%CI=1.518-115.901）。BRAF 突变与总生存期降低相关（中位生存时间分别为 16.5 个月和 31.4 个月，Log-rank 检验 P=0.001）。NRAS 突变与总生存期降低无显著相关性。
在本研究中，黑色素瘤患者在很大程度上被诊断为晚期，伴有溃疡和区域淋巴结受累。BRAF 突变与皮肤黑色素瘤患者的生存降低相关。
