目的 分析中国黏膜和肢端黑色素瘤中ERBB4基因突变、ERBB4蛋白表达情况及临床意义.方法 收集59例中国黑色素瘤患者(33例黏膜黑色素瘤,26例肢端黑色素瘤)组织标本,采用PCR扩增和基因测序法检测ERBB4基因第18～23外显子突变,免疫组化法检测ERBB4蛋白的表达.结果 ERBB4基因在黏膜黑色素瘤患者中突变率为12.1％(4/33),在肢端黑色素瘤中为7.7％(2/26)；ERBB4蛋白在黏膜黑色素瘤中阳性率为84.8％(28/33),在肢端黑色素瘤中为76.9％(20/26).ERBB4蛋白阳性表达患者的总生存期显著长于ERBB4蛋白阴性表达患者(P=0.011).结论 中国黏膜和肢端黑色素瘤患者的ERBB4基因突变率较高,检测ERBB4蛋白表达情况有助于判断其预后.%Objective To investigate the ERBB4 gene mutations,expression of ERBB4 protein and their clinical significance in Chinese patients with mucosal and acral melanomas. Methods Fifty-nine melanomas (33 mucosal melanomas, 26 acral melanomas) were analyzed for mutations in exons 18-23 of ERBB4 in genomic DNA by PCR amplification and sanger sequencing, and were detected the ERBB4 protein expression by immunohistoehemistry. Results In the mucosal and acral melanoma subtypes, the frequency of ERBB4 mutations was 12.1% (4/33) and 7. 7% (2/26) , respectively. The positive expression rates of ERBB4 protein in the mucosal and aeral melanoma was 84. 8% (28/33) and 76. 9% (20/26), respectively. It was found patients whose tumors expressed ERBB4 protein had increased survival (P = 0.011). Conclusion The percentage of ERBB4 mutations was higher in Chinese patients with mucosal and acral melanomas, and determination of the ERBB4 protein expression may be useful in predicting prognosis of Chinese patients with mucosal and acral melanomas.
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