中国117例黑素瘤患者PTEN基因突变及其临床意义

Mutations of PTEN gene in 117 Chinese patients with malignant melanoma and their clinical significance

目的:分析中国黑素瘤患者第10号染色体同源缺失性磷酸酶-张力蛋白(phosphatase and tensinhomologue deleted on chromosome10,PTEN)基因突变情况及其临床意义。方法:收集117例中国黑素瘤患者的肿瘤组织标本(42例为黏膜型,39例为肢端型,23例为慢性非日光损伤型,13例为慢性日光损伤型)。应用PCR扩增和基因测序方法检测PTEN基因1～9号外显子的突变情况。结果:117例黑素瘤患者的PTEN基因突变率为13.7%(16/117),其中黏膜型患者的突变率为16.7%(7/42),肢端型为15.4%(6/39),慢性非日光损伤型为8.7%(2/23),慢性日光损伤型为7.7%(1/13)。在肿瘤厚度≥4mm的患者中,PTEN野生型患者的总生存期明显长于突变型患者(χ2=4.237,P=0.04)。结论:本研究首次报道了中国黑素瘤患者中较高的PTEN基因突变率,提示检测PTEN基因突变情况有助于判断黑素瘤患者的预后。

Objective： This study was designed to investigate the frequency of PTEN （phosphatase and tensin homologue deleted on chromosome 10） mutation in Chinese melanoma patients and explore its clinical significance. Methods： One hundred and seventeen melanoma specimens （42 mucosal melanomas, 39 acral melanomas, 23 non-chronic sun-induced damage melanomas, 13 chronic sun-induced damage melanomas） were collected and the mutation status in exons 1-9 of PTEN gene in genomic DNA were analyzed by PCR amplification and Sanger sequencing. Results： The frequency of PTEN mutation was 13.7% （16/117） in 117 melanoma specimens detected, and the frequencies of PTEN mutation in the mucosal, acral, non-chronic sun-induced damage and chronic sun-induced damage melanoma subtypes were 16.7% （7/42）, 15.4% （6/39）, 8.7% （2/23）and 7.7% （1/13）, respectively. Patients whose tumor thickness equal to or more than 4 mm with wild type PTEN had a prolonged overall survival time as compared with that of the patients with PTEN mutation （χ2 = 4.237, P = 0.04）. Conclusion： This study first reported that the frequency of PTEN mutation in Chinese melanoma patients, suggesting that PTEN mutation may be an independent prognostic factor for advanced melanoma patients.