PTEN突变对黏膜黑色素瘤患者临床病理特征及预后的影响  

Influence of PTEN mutation on pathological features and prognosis of patients with mucosal melanoma

作　　者：贡子琦 吴晓雯 郭倩 郭军[1] 孔燕[1] GONG Ziqi;WU Xiaowen;GUO Qian;GUO Jun;KONG Yan(Department of Melanoma and Sarcoma,Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Peking University Cancer Hospital&Institute,Beijing 100142,China)

机构地区：[1]北京大学肿瘤医院北京市肿瘤防治研究所、黑色素瘤与肉瘤内科、恶性肿瘤发病机制及转化研究教育部重点实验室,北京100142

出　　处：《基础医学与临床》2023年第9期1341-1345,共5页Basic and Clinical Medicine

基　　金：国家自然科学基金(81972557);北京市自然科学基金(7202022)。

摘　　要：目的探讨磷酸酶及张力蛋白同源物PTEN突变对黏膜黑色素瘤患者临床病理特征及预后的影响。方法收集2019年4月至2022年3月北京大学肿瘤医院黑色素瘤与肉瘤内科收治的66例黏膜黑色素瘤患者的临床信息和随访资料,采用二代测序技术检测PTEN基因的突变情况,分析PTEN突变与患者临床病理特征及预后的关系。结果66例黏膜黑色素瘤患者中,PTEN突变率为19.4%,PTEN突变状态与确诊时年龄和原发灶部位显著相关(P<0.05);在42例接受免疫治疗的患者队列中,PTEN突变患者的中位无进展生存期(mPFS)为3.37个月,显著低于野生型患者(9.2个月)(P<0.05)。多因素Cox回归分析进一步证实PTEN突变是影响免疫治疗疗效的独立预后因素(P<0.05)。结论PTEN在确诊时年龄小于60岁和原发灶为消化道黏膜的患者中突变频率更高,且PTEN突变是患者接受免疫治疗预后较差的独立预测因素。Objective To investigate the effects of PTEN(phosphatase and tensin homolog)mutation on pathological characteristics and prognosis of patients with mucosal melanoma.Methods Clinical and follow-up data of 66 patients with mucosal melanoma from the Department of Melanoma and Sarcoma,Peking University Cancer Hospital from April 2019 to March 2022 were collected and the mutation of PTEN was detected by next-generation sequencing to analyze the relationship between PTEN mutation and patients′pathological characteristics and prognosis.Results Among 66 patients with mucosal melanoma,the frequency of PTEN mutation was 19.40%and the mutation frequency was significantly associated with age at diagnosis and primary tumor site(P<0.05);In the cohort with 42 patients receiving immunotherapy,the median progression-free survival(mPFS)of PTEN-mutant patients was 3.37 months,which was significantly lower than that of wild-type patients(9.2 months)(P<0.05).Multivariate Cox regression analysis further confirmed that PTEN mutation was an independent prognostic factor for poor prognosis of immunotherapy(P<0.05).Conclusions The frequency of PTEN mutation is significantly higher in patient who were diagnosed at the aged less than 60 and in patients with tumors originated from gastrointestinal mucosa.PTEN mutation is also an independent risk factor for poorer prognosis in patients receiving immunotherapy.

关 键 词：黏膜黑色素瘤 PTEN 基因突变 病理特征 预后 

分 类 号：R73[医药卫生—肿瘤]