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原发性黑色素瘤中BRAF突变的频率及其临床相关性

Frequency of BRAF Mutation and Clinical Relevance for Primary Melanomas.

作者信息

Lee Hyoun Wook, Song Ki Hoon, Hong Jin Woo, Jeon Su Young, Ko Dong Yeob, Kim Ki Ho, Kwon Hyuk Chan, Lee Suee, Kim Sung Hyun, Kim Dae Cheol

机构信息

Department of Pathology, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.

出版信息

Korean J Pathol. 2012 Jun;46(3):246-52. doi: 10.4132/KoreanJPathol.2012.46.3.246. Epub 2012 Jun 22.

Abstract

BACKGROUND

This study was conducted to clarify the frequency of the BRAF mutation in primary melanomas and its correlation with clinicopathologic parameters.

METHODS

We analyzed the frequency of BRAF mutation in patients with primary cutaneous melanoma (n=58) or non-cutaneous one (n=27) by performing dual priming oligonucleotide-based multiplex real-time polymerase chain reaction to isolate and to purify the DNA from the formalin-fixed and paraffin-embedded tumors.

RESULTS

The BRAF mutation was found in 17.2% (10/58) of patients with primary cutaneous melanoma and 11.1% (3/27) of those with non-cutaneous melanoma. The frequency of BRAF mutation was not correlated with any clinicopathologic parameters with the exception of the patient age. The frequency of the BRAF mutation was significantly higher in patients younger than 60 years as compared with those older than 60 years (p=0.005).

CONCLUSIONS

Compared with previous reports, our results showed that the frequency of the BRAF mutation was relatively lower in patients with primary cutaneous melanoma. Besides, our results also showed that the frequency of the BRAF mutation had an inverse correlation with the age. Further studies are warranted to exclude methodological bias, to elucidate the difference in the frequency of the BRAF mutation from the previous reports from a Caucasian population and to provide an improved understanding of the molecular pathogenesis of malignant melanoma.

摘要

背景

本研究旨在明确原发性黑色素瘤中BRAF突变的频率及其与临床病理参数的相关性。

方法

我们通过基于双引物寡核苷酸的多重实时聚合酶链反应,从福尔马林固定石蜡包埋的肿瘤中分离和纯化DNA,分析原发性皮肤黑色素瘤患者(n = 58)或非皮肤黑色素瘤患者(n = 27)中BRAF突变的频率。

结果

原发性皮肤黑色素瘤患者中17.2%(10/58)发现BRAF突变,非皮肤黑色素瘤患者中11.1%(3/27)发现BRAF突变。除患者年龄外,BRAF突变频率与任何临床病理参数均无相关性。60岁以下患者的BRAF突变频率显著高于60岁以上患者(p = 0.005)。

结论

与既往报道相比,我们的结果显示原发性皮肤黑色素瘤患者中BRAF突变频率相对较低。此外,我们的结果还显示BRAF突变频率与年龄呈负相关。有必要进一步开展研究以排除方法学偏倚,阐明与白种人群既往报道相比BRAF突变频率存在差异的原因,并增进对恶性黑色素瘤分子发病机制的理解。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/20dc/3479764/c157c152fa25/kjpathol-46-246-g001.jpg

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