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BRAF 和 NRAS 基因突变在皮肤黑色素瘤的组织学类型和起源部位中的频率不同:一项荟萃分析。

Frequencies of BRAF and NRAS mutations are different in histological types and sites of origin of cutaneous melanoma: a meta-analysis.

机构信息

Department of Pathology, Korea University Ansan Hospital, 516, Gojan-1 Dong, Danwon-Gu, Ansan-Si, Gyeonggi-Do 425-707, Korea.

出版信息

Br J Dermatol. 2011 Apr;164(4):776-84. doi: 10.1111/j.1365-2133.2010.10185.x. Epub 2011 Mar 21.

Abstract

BACKGROUND

There have been conflicting data regarding the prevalence and clinicopathological characteristics of BRAF and NRAS mutations in primary cutaneous melanoma.

OBJECTIVES

To solve this controversy, this study used a meta-analysis to evaluate the frequencies of BRAF and NRAS mutations, and the relationship between these mutations and clinicopathological parameters of cutaneous melanoma.

METHODS

Data from studies published between 1989 and 2010 were combined. The BRAF and NRAS mutations were reported in 36 and 31 studies involving 2521 and 1972 patients, respectively. The effect sizes of outcome parameters were calculated by odds ratios (OR).

RESULTS

BRAF and NRAS mutations were reported in 41% and 18% of cutaneous melanomas, respectively. The mutations were associated with histological subtype and tumour site, but not with age and sex. The BRAF mutation was frequently detected in patients with superficial spreading melanoma (OR=2·021; P<0·001) and in melanomas arising in nonchronic sun-damaged skin (OR=2·043; P=0·001). In contrast, the NRAS mutation was frequently evident in patients with nodular melanoma (OR=1·894; P<0·001) and in melanomas arising in chronic sun-damaged skin (OR=1·887; P=0·018).

CONCLUSIONS

This pooled analysis shows that the incidences of BRAF and NRAS mutations in cutaneous melanomas differ according to histological type and tumour location based on the degree of sun exposure.

摘要

背景

关于原发性皮肤黑素瘤中 BRAF 和 NRAS 突变的流行率和临床病理特征,存在相互矛盾的数据。

目的

为了解决这一争议,本研究采用荟萃分析来评估 BRAF 和 NRAS 突变的频率,以及这些突变与皮肤黑素瘤临床病理参数之间的关系。

方法

合并了 1989 年至 2010 年间发表的研究数据。有 36 项研究报告了 BRAF 突变,涉及 2521 例患者;有 31 项研究报告了 NRAS 突变,涉及 1972 例患者。通过比值比(OR)计算结局参数的效应大小。

结果

BRAF 和 NRAS 突变分别在 41%和 18%的皮肤黑素瘤中被报道。这些突变与组织学亚型和肿瘤部位相关,但与年龄和性别无关。BRAF 突变在浅表扩散性黑素瘤(OR=2.021;P<0.001)和非慢性日光损伤皮肤的黑素瘤(OR=2.043;P=0.001)患者中频繁检出。相比之下,NRAS 突变在结节性黑素瘤(OR=1.894;P<0.001)和慢性日光损伤皮肤的黑素瘤(OR=1.887;P=0.018)患者中频繁出现。

结论

这项汇总分析表明,BRAF 和 NRAS 突变在皮肤黑素瘤中的发生率根据组织学类型和肿瘤位置而有所不同,这与日照程度有关。

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