黑色素瘤是所有皮肤肿瘤中进展最快且预后最为不良的恶性肿瘤，在全球范围内的发病率与死亡率逐年增加。分子靶向治疗已成为当前晚期黑色素瘤治疗的首要策略，但目前已知的有效治疗靶点有限。血小板来源的衍生生长因子受体α（Platelet-derived growth factor alpha polypeptide，PDGFRA）在黑色素细胞分化中发挥重要作用，目前已在多种肿瘤中发现PDGFRA基因突变。申请者前期对黑色素瘤组织标本中PDGFRA的突变情况进行了检测，证实中国人群黑色素瘤中PDGFRA突变率为4.6%，生存分析提示PDGFRA突变可能为黑色素瘤预后不良的危险因素之一。在前述突变筛查基础上，本课题拟深入研究PDGFRA基因突变在黑色素细胞恶性转化中的生物学功能，并澄清其诱导黑色素细胞生物学特性发生变化的作用机制，以期为明确PDGFRA基因突变在黑色素瘤中的分子机制提供实验线索。

Melanoma is the most aggressive and life-threatening skin cancer. The incidence and mortality of melanoma is increasing worldwide every year. Molecular targeted therapy is the primary treatment for advanced melanoma according to latest clinical trials, but there are only a few effective therapeutic targets. PDGFRA plays an important role in melanocyte differentiation, and dysregulation of PDGFRA has been reported in multiple malignancies. We have analyzed PDGFRA mutations in Chinese melanoma patients in previous studies. Our results demonstrate that the mutation rate of PDGFRA in Chinese melanomas is 4.6%. Kaplan-Meier survival analysis suggests that PDGFRA mutation maybe a risk factor for poor prognosis. Based on these findings, we will further investigate the biological functions and mechanisms of PDGFRA mutations on melanocytes transformation. This study will provide clues to clarify the molecular mechanisms of PDGFRA mutation in melanomas.