摘要
目的 研究鼻腔黏膜恶性黑色素瘤中BRAF基因突变发生的概率、突变类型,以及其下游活化细胞外调节蛋白激酶（ERK）的表达改变,分析其与皮肤恶性黑色素瘤中两者表达的不同,探讨发生于鼻腔黏膜和皮肤的恶性黑色素瘤的发病机制是否存在差异.方法 选取复旦大学附属眼耳鼻喉科医院20例鼻腔黏膜恶性黑色素瘤患者新鲜冻存瘤组织,提取基因组DNA,经PCR扩增BRAF基因的15号外显子编码区,纯化后直接测序分析突变.提取总蛋白,用Western印迹法检测活化ERK的表达.结果 鼻腔黏膜恶性黑色素瘤组织BRAF基因突变率为5%（1/20）,明显低于皮肤恶性黑色素瘤;活化ERK表达率60%（12/20）,与皮肤恶性黑色素瘤相似.结论 BRAF基因突变并不是鼻腔黏膜恶性黑色素瘤活化ERK高表达的主要原因,其发病机制与皮肤恶性黑色素瘤有所不同.
Objective To determine the rate of BRAF gene mutation and the expression of activated extracellular regulated protein kinases （ERK） in nasal mucosa malignant melanomas and compare the results with those in cutaneous melanomas so as to explore the difference in the pathogenesis between nasal mucosa malignant melanomas and cutaneous melanomas. Methods Twenty nasal mucosa melanomas samples were collected. Genomic DNA was extracted and the BRAF mutation detected by PCR （polymerase chain reaction） and direct sequencing analysis. Total protein was obtained and the activated ERK detected by Western blot. Results BRAF mutation was detected in 5% （1/20） samples of all patients. The mutation rate was much lower than that in cutaneous melanomas. And phosphorylated ERK protein was detected in 60% （12/20）. And the result was almost similar to that of cutaneous melanomas. Conclusions The high expression of activated ERK is not caused mainly by BRAF gene mutation in nasal mucosa malignant melanomas. The pathogenic pathways are different between nasal mucosa malignant melanomas and cutaneous melanomas.
出处
《中华医学杂志》
CAS
CSCD
北大核心
2010年第48期3399-3402,共4页
National Medical Journal of China
关键词
黑色素瘤
鼻黏膜
突变
细胞外调节蛋白激酶
Melanoma
Nasal mucosa
Mutation
Extracellular regulated protein kinases
