不同来源黑色素瘤BRAF V600E基因突变分析

Analysis of BRAF Gene Mutation of Melanoma Derived from Different Sources

目的:探讨BRAF V600E基因突变与黑色素瘤源于非色素痣或色素痣的相关性。方法:应用PCR和DNA测序法对62例非色素痣来源和22例色素痣来源的黑色素瘤标本中BRAF V600E位点是否突变进行检测。结果:非色素痣来源黑色素瘤突变率为45.2%;先天性小痣来源黑色素瘤突变率为11.1%;后天痣来源黑色素瘤突变率为15.4%,组间比较差异有统计学意义(χ~2=6.972,P<0.05)。不同来源的黑色素瘤患者的不同性别及发病部位(肢端、非肢端、黏膜)基因突变率比较,差异无统计学意义(P>0.05)。结论:BRAF V600E基因突变与黑色素瘤来源于非色素痣或先天痣或后天痣关系密切,而与性别、发病部位无明显相关性。

Objective To investigate the relationship between BRAF V600E gene mutation and melanoma derived from non pigmented nevus or pigmented nevus.Methods The melanoma tissue specimens in 62 Patients from non pigmented nevus and 22 patients from melanocytic nevus were collected,PCR and DNA sequencing were used to detect the mutation of V600E locus in BRAF gene.Results The BRAF gene mutation rates respectively was 45.2%in the melanoma derived from non pigmented nevus,11.1%in the melanoma derived from congenital small nevi and 15.4%in the melanoma derived from acquired melanocytic nevus,there was a significant difference(χ2=6.972,P<0.05).There is no significant difference in the gene mutation rate of the different sex and locations(acromelic,non acromegaly,mucous membrane)in melanoma derived from different sources(P>0.05).Conclusion BRAF V600E gene mutation appear to be closely related with the origins of melanoma derived from non pigmented nevus or congenital nevus or acquired nevus,but uncorrelated with gender and lesion sites.