Smyth P, Finn S, Cahill S, O'Regan E, Flavin R, O'Leary J J, Sheils O
Department of Histopathology, Trinity College, Dublin, Ireland.
Int J Surg Pathol. 2005 Jan;13(1):1-8. doi: 10.1177/106689690501300101.
The purpose of this study was to assess BRAF mutation rates in various thyroid tissues and to investigate if concomitant mutations with ret/PTC activation occurred in inflammatory and neoplastic lesions. To this end, we developed a novel Taqman based screening assay for the common T1799A BRAF mutation. Heterozygous T1799A mutations were detected in 13 of 34 (44%) papillary thyroid carcinomas (PTCs) tested. No such mutations were detected in the other tissue types tested. Concomitant presence of both oncogenes was reported in 5 of the 34 PTCs. A significant temporal trend was observed, with ret/PTC chimera detected for the most part before 1997 and BRAF mutations being more prevalent after 1997. The results suggest that some environmental/etiological agent(s) may have influenced the pathobiology of thyroid tumor development, among the population examined, over time.
本研究的目的是评估不同甲状腺组织中的BRAF突变率，并调查在炎症性和肿瘤性病变中是否发生了与ret/PTC激活相关的伴随突变。为此，我们开发了一种基于Taqman的新型筛查方法，用于检测常见的T1799A BRAF突变。在34例接受检测的甲状腺乳头状癌（PTC）中，有13例（44%）检测到杂合性T1799A突变。在其他检测的组织类型中未检测到此类突变。在34例PTC中的5例中报告了两种致癌基因的同时存在。观察到显著的时间趋势，ret/PTC嵌合体大多在1997年之前被检测到，而BRAF突变在1997年之后更为普遍。结果表明，随着时间的推移，在接受检查的人群中，某些环境/病因因素可能影响了甲状腺肿瘤发生发展的病理生物学过程。
