中华皮肤科杂志 ›› 2016, Vol. 49 ›› Issue (7): 474-477.

• 论著 • 上一篇    下一篇

肢端型黑素瘤NRAS基因突变检测及预后分析

曾颖1,康晓静2,张祥月1,靳颖3,柴莉4,曾明凤1,王莹1,王唯嘉1   

  1. 1. 新疆维吾尔自治区人民医院
    2. 乌鲁木齐市 新疆维吾尔自治区人民医院皮肤科
    3. 新疆维吾尔自治区人民医院皮肤性病科
    4. 新疆医科大学
  • 收稿日期:2015-09-30 修回日期:2016-01-11 发布日期:2016-06-30
  • 通讯作者: 康晓静 E-mail:drkangxj666@163.com
  • 基金资助:

    新疆维吾尔自治区国际科技合作计划项目

Analysis of NRAS gene mutations and prognostic factors in patients with acral melanoma

  • Received:2015-09-30 Revised:2016-01-11 Published:2016-06-30

摘要:

目的 分析肢端黑素瘤临床及病理特点,检测肢端型黑素瘤NRAS基因突变情况,探讨NRAS基因突变与疾病预后的关系。方法 收集经病理确诊的55例肢端型黑素瘤患者的临床及病理资料,提取其石蜡包埋组织及15例色素痣石蜡包埋组织DNA,采用PCR及DNA直接测序法检测NRAS基因突变。采用Cox比例风险回归模型进行单因素和多因素分析。结果 55例肢端型黑素瘤患者中,6例(10.9%)发生NRAS突变,突变位于61密码子,以Q61R为主。NRAS基因1、2外显子及15例色素痣组织未见上述突变。6例NRAS突变患者中,4例发生淋巴结转移。多因素Cox回归模型分析中,临床分期晚(RR = 2.54,95% CI:1.062 ~ 6.066)、未手术切除(RR = 2.98,95% CI:1.316 ~ 3.525)、存在NRAS突变(RR = 2.73,95% CI:0.932 ~ 3.257)为预后不良的独立影响因素(均P < 0.05)。结论 肢端型黑素瘤患者NRAS突变可能与淋巴结转移相关,临床分期、治疗方法、NRAS突变与预后有关。NRAS突变可能为肢端型黑素瘤提供一个新的预后评估指标。

Abstract:

Zeng Ying, Kang Xiaojing, Zhang Xiangyue, Jin Ying, Chai Li, Zeng Mingfeng, Wang Ying, Wang Weijia Department of Dermatology and Venereology, People′s Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001, China (the current affiliation of the first author was Graduate School, College of Medicine, Shihezi University, Shihezi 832002, Xinjiang, China) Corresponding author: Kang Xiaojing, Email: drkangxj666@163.com 【Abstract】 Objective To detect NRAS gene mutations in patients with acral melanoma, and to analyze their relationship with the prognosis of acral melanoma. Methods Clinical and pathological data were collected from 55 patients with pathologically diagnosed acral melanoma. DNA was extracted from paraffin?embedded specimens from lesions of the 55 patients and 15 patients with nevus. PCR and direct DNA sequencing were performed to detect NRAS gene mutations. Univariate and multivariate analyses were performed using the Cox′s proportional hazards regression model. Results Of the 55 patients, 6 (10.9%) carried the Q61R mutation in codon 61 of the NRAS gene. No mutations were found in exon 1 or 2 of the NRAS gene in any of these paraffin?embedded specimens, and none of the pigmented nevus specimens harbored NRAS gene mutations. Of the 6 patients carrying NRAS gene mutations, 4 had lymph node metastasis. Multivariate Cox regression analysis showed that independent factors of poor prognosis included advanced clinical stage (RR = 2.54, 95% CI: 1.062 - 6.066, P < 0.05), not receiving surgical resection (RR = 2.98, 95% CI: 1.316 - 3.525, P < 0.05), and carrying NRAS gene mutations (RR = 2.73, 95% CI: 0.932 - 3.257, P < 0.05). Conclusions NRAS gene mutations may be associated with lymph node metastasis in patients with acral melanoma. The prognosis of acral melanoma may be associated with clinical staging, treatment strategies and NRAS gene mutations. Additionally, NRAS gene mutations may serve as a new index for predicting prognosis of acral melanoma.

引用本文

曾颖 康晓静 张祥月 靳颖 柴莉 曾明凤 王莹 王唯嘉. 肢端型黑素瘤NRAS基因突变检测及预后分析[J]. 中华皮肤科杂志, 2016,49(7):474-477. doi: