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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: To analyze the mutation and its clinical significance of PTEN gene on chromosome 10 in Chinese patients with melanoma. Methods: Tumor samples from 117 Chinese patients with melanoma were collected (42 mucosa, 39 acromegaly, 23 chronic non-photodamage and 13 chronic photodamage). The mutation of exon 1 to exon 9 of PTEN gene was detected by PCR amplification and gene sequencing. Results: The mutation rate of PTEN gene in 117 cases of melanoma was 13.7% (16/117). The mutation rate of mucosal type was 16.7% (7/42) and acromegaly was 15.4% (6/39) Chronic non-sun damage was 8.7% (2/23), chronic sun damage was 7.7% (1/13). The overall survival of PTEN wild-type patients was significantly longer than that of mutant patients (χ2 = 4.237, P = 0.04) in patients with tumor thickness ≥4 mm. CONCLUSIONS: This study reports for the first time the high mutation rate of PTEN gene in Chinese melanoma patients, suggesting that detecting the mutation of PTEN gene may help to predict the prognosis of melanoma patients.