BRAF mutation and AKAP9 expression in sporadic papillary thyroid carcinomas
BRAF mutation and AKAP9 expression in sporadic papillary thyroid carcinomas
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DOI：
10.1080/00313020600696264
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发表时间：
2006-06-01
期刊：
影响因子：
4.5
通讯作者：
Chae, Yang-Seok
中科院分区：
文献类型：
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作者：
Lee, Ju-Han;Lee, Eung Seok;Chae, Yang-Seok
目的：检测BRAF基因突变和AKAP9在甲状腺乳头状癌(PTCs)中的表达。方法和结果：在100例散发性PTC中，62.2%的常规型PTC(51/82)、50%的滤泡型PTC(3/6)、50%的弥漫性硬化型PTC(1/2)和30%的微小癌(3/10)中检测到BRAF突变和AKAP9表达。所有突变都涉及1796位核苷酸的T->；A颠换。BRAF基因突变与甲状腺外侵犯显著相关。免疫组织化学方法检测AKAP9蛋白的表达。在所有的PTC中，AKAP9蛋白被认为是一个单一的核周点。因此，58%的标本存在BRAF突变，无1例在散发性PTC中发现AKAP9-BRAF融合。结论：BRAF突变可作为一种有用的诊断和预后指标，并可作为探索治疗PTC的新的肿瘤治疗方法的靶点。AKAP9-BRAF融合在散发性PTC中可能是非常罕见的事件。
Aim: We aimed to determine the BRAF mutation and AKAP9 expression in papillary thyroid carcinomas (PTCs).Methods and Results: In this study, we analysed 100 sporadic PTC specimens and we detected mutation in 62.2% of the conventional type PTCs (51/82), in 50% of the follicular variant type PTCs (3/6), in 50% of the diffuse sclerosing variant type PTCs (1/2), and in 30% of the microcarcinomas (3/10). All mutations involved a T -> A transversion at the nucleotide 1796. The cases with BRAF mutation were significantly associated with extrathyroidal extension. We also evaluated the expression of AKAP9 protein by immunohistochemistry. The AKAP9 protein was seen as a single perinuclear dot in all the PTCs. Therefore, 58% of the specimens harboured the BRAF mutation and no case had AKAP9-BRAF fusion in the sporadic PTCs.Conclusion: Our results suggest that the BRAF mutation can be a useful diagnostic and prognostic marker and a target for exploring novel cancer therapies to treat PTCs. AKAP9-BRAF fusion may be a very rare event in sporadic PTCs.