Mutations of Pl6INK4a/CDK4/CCND1 genes in 134 Chinese melanoma patients and their clinical significance / 基础医学与临床

ABSTRACT

Objective To investigate the frequency of P16INK4a, CDK4 and CCND1 gene mutations in Chinese melanoma patients and to find out the potential clinical significance. Methods The samples in this study were collected from 134 melanoma patients(37 acral melanomas, 87 mucosal melanomas, 10 nonacral skin melanomas), hospitalized in Beijing Cancer Hospital from January 2010 to December 2014.The mutation status of P1 6INK4a, CDK4 and CCNDl was detected by PCR amplification and Sanger sequence. Statistical analyses were used to investigate the correlation between gene mutation and prognosis. Results Among 134 samples, the mutation frequency of P16INK4a, CDK4, CCNDl was 8.2％(11/134), 0.75％(1/134), 0％(0/134) respectively.81.8％ (9/11) of the P16INK4a gene mutation may affect protein function.The median survival time of melanoma patients with P16INK4a mutations was significantly shorter than the patients without Pl6INK4a mutations (X2 = 8.872, P＜0.01).P16INK4a gene mutation was an independent prognostic factor for melanoma (P＜0.05). Conclusions P16INK4a may be a breaking point of targeted therapy for melanoma.