Kang Xiaojing, Zeng Ying, Liang Junqin, Li Jing, Ren Danyang, Chai Li, Sun Zhenzhu, Yu Shirong, Wu Xiujuan, Han Wen, Wang Weijia
Department of Dermatology Department of Pathology, People's Hospital of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang, China.
Medicine (Baltimore). 2018 Jan;97(1):e9509. doi: 10.1097/MD.0000000000009509.
Malignant melanoma (MM) is a highly malignant melanocytic tumor, it occurs mostly in the skin, the mucous membrane close to the skin, but also in the tunicae rhagoides and the pia mater. The Uyghur is the largest ethnic group living in the Xinjiang Uyghur Autonomous Region of China, accounting for 46% of the total population of 20 million. Large-scale studies on MMs in Asian countries are limited. This study aimed to investigate BRAF mRNA expression and mutations in Chinese Uyghur patients with MMs and to identify the clinical features associated with these parameters.Formalin-fixed, paraffin wax-embedded tumor sections from 60 MMs were analyzed for BRAF expression using reverse transcription polymerase chain reaction (RT-PCR). Exons 11 and 15 of BRAF were analyzed for the presence of mutations using PCR and DNA sequencing. Sixty MMs were followed by mobile phone for survival analysis.BRAF mRNA expression was higher in MMs than in pigmented moles and normal skin tissues. Fourteen of 60 MMs had BRAF mutations. The frequency of BRAF mutations was significantly higher in patients younger than 60 years (10/28, 4/32, P = .02). A significant difference was observed in the frequency of BRAF mutations among specimens of mucosal, acral, chronic sun-induced damage (CSD), and non-CSD MMs (2/10, 3/19, 8/25, 1/6, P = .002). No significant association was found among BRAF mutations, sex, ulceration, or lymph node metastasis. MMs lymph node metastasis (hazard ratio 2.54 [95% confidence interval 1.062 - 6.066], P = .01) affected survival.This study indicated that BRAF mutations and expression might serve as independent adverse prognostic factors in melanoma.
恶性黑色素瘤(MM)是一种高度恶性的黑素细胞肿瘤,主要发生于皮肤、皮肤附近的黏膜,也可发生于脉络膜和软脑膜。维吾尔族是中国新疆维吾尔自治区最大的民族,占2000万总人口的46%。亚洲国家关于MM的大规模研究有限。本研究旨在调查中国维吾尔族MM患者中BRAF mRNA表达及突变情况,并确定与这些参数相关的临床特征。采用逆转录聚合酶链反应(RT-PCR)分析60例MM经福尔马林固定、石蜡包埋的肿瘤切片中的BRAF表达。利用PCR和DNA测序分析BRAF的第11和15外显子是否存在突变。通过手机随访60例MM患者进行生存分析。MM中BRAF mRNA表达高于色素痣和正常皮肤组织。60例MM中有14例存在BRAF突变。年龄小于60岁患者的BRAF突变频率显著更高(10/28,4/32,P = 0.02)。黏膜、肢端、慢性日光损伤(CSD)和非CSD的MM标本中BRAF突变频率存在显著差异(2/10,3/19,8/25,1/6,P = 0.002)。未发现BRAF突变与性别、溃疡或淋巴结转移之间存在显著关联。MM淋巴结转移(风险比2.54[95%置信区间1.062 - 6.066],P = 0.01)影响生存。本研究表明,BRAF突变和表达可能是黑色素瘤独立的不良预后因素。