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亚洲与西方国家滤泡状甲状腺癌的基因差异:一项系统评价

Genetic differences in follicular thyroid carcinoma between Asian and Western countries: a systematic review.

作者信息

Odate Toru, Oishi Naoki, Vuong Huy Gia, Mochizuki Kunio, Kondo Tetsuo

机构信息

Department of Pathology, University of Yamanashi, Chuo, Yamanashi, Japan.

Department of Pathology, Oklahoma University Health Sciences Center, Oklahoma City, OK, USA.

出版信息

Gland Surg. 2020 Oct;9(5):1813-1826. doi: 10.21037/gs-20-356.

Abstract

Thyroid cancer is the most common endocrine malignancy, and follicular thyroid carcinoma (FTC) is the second most common thyroid cancer following papillary thyroid carcinoma (PTC). mutation and rearrangement are the two representative genetic alterations in FTC, and there are studies from various countries on their regional frequencies. In this study, we systematically reviewed all available literature aiming to create a complete global map showing the frequencies of these common oncogenic drivers in FTC and to highlight the trends in Asian and Western countries. We performed a search in two electronic databases and identified 71 studies that fit our criteria from 1,329 studies found with our database search terms. There were 54 articles with 1,143 FTC patients and 39 articles with 764 FTC patients available for calculating the frequency of mutation and rearrangement, respectively. mutation was the most frequent mutation in all regions, followed by and mutation. The frequency of mutation in Asian countries was higher than Western countries (34% 27%, P=0.006) when the mutation detection method was not taken into account. In contrast, this difference in mutation incidence between Asian and Western countries (28% 25%, P0.47) did not show up in our subgroup analysis incorporating only studies using direct sequencing method. The reported difference of mutation frequency in the previous literature might not be due to the true prevalence of mutation. They could be attributed to the difference in the detection method. As to rearrangement, Western countries overall had a much higher prevalence than Asian countries (23% 4%, P<0.001), but some European countries had a low incidence, implying regional heterogeneity of rearrangement. A substantial lack of mutation data in FTC was found in several regions of the world such as Central Asia, Middle East, Africa, and Central and South America. Our results provide the most comprehensive global status of representative genetic alterations in FTC and highlight the similarities and differences between Asian and Western countries.

摘要

甲状腺癌是最常见的内分泌恶性肿瘤,滤泡状甲状腺癌(FTC)是继乳头状甲状腺癌(PTC)之后第二常见的甲状腺癌。BRAF突变和RAS重排是FTC中两种具有代表性的基因改变,不同国家有关于它们区域频率的研究。在本研究中,我们系统地回顾了所有可用文献,旨在绘制一幅完整的全球地图,展示这些常见致癌驱动因素在FTC中的频率,并突出亚洲和西方国家的趋势。我们在两个电子数据库中进行了检索,从通过数据库检索词找到的1329项研究中确定了71项符合我们标准的研究。分别有54篇文章涉及1143例FTC患者以及39篇文章涉及764例FTC患者可用于计算BRAF突变和RAS重排的频率。BRAF突变是所有区域最常见的RAS突变,其次是NRAS和HRAS突变。在不考虑突变检测方法时,亚洲国家BRAF突变的频率高于西方国家(34%对27%,P = 0.006)。相比之下,在仅纳入使用直接测序方法的研究的亚组分析中,亚洲和西方国家之间BRAF突变发生率的这种差异(28%对25%,P>0.47)并未显现。先前文献中报道的BRAF突变频率差异可能并非由于BRAF突变的真实流行情况。它们可能归因于检测方法的差异。至于RAS重排,西方国家总体患病率远高于亚洲国家(23%对4%,P<0.001),但一些欧洲国家发病率较低,这意味着RAS重排存在区域异质性。在世界几个地区,如中亚、中东、非洲以及中美洲和南美洲,发现FTC中BRAF突变数据严重缺乏。我们的结果提供了FTC中代表性基因改变最全面的全球状况,并突出了亚洲和西方国家之间的异同。

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