The 2-fold excess thyroid cancer risk reported in multiple World Trade Center (WTC) disaster exposed cohorts cannot entirely be explained by surveillance and physician bias thus highlighting the need to investigate the potential consequences of the dust exposure, containing carcinogenic and endocrine disruptive elements, on the thyroid. This study investigated the presence of TERT promoter and BRAF V600E mutations in 20 WTC-exposed versus 23 matched non-exposed thyroid cancers as potential mechanism explaining the excess risk. Although no significant difference in BRAF V600E mutation was found, TERT promoter mutations were significantly more prevalent in WTC thyroid cancer versus non-exposed thyroid cancers (P = 0.021). The odds of a TERT promoter mutation was significantly higher in the WTC versus the non-WTC thyroid cancers after adjustment [ORadj: 7.11 (95% CI: 1.21-41.83)]. These results may indicate that exposure to the mixture of pollutants present in the WTC dust resulted in an excess thyroid cancer risk and potentially more aggressive thyroid cancer, warranting investigating WTC responders on thyroid-associated symptoms during their health checkups. Future studies should include long-term follow-up to provide important insights in whether thyroid-specific survival is negatively affected by WTC dust exposure and whether this is because of the presence of one or more driver mutations.

中文翻译：

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世界贸易中心响应者甲状腺癌中的 TERT 和 BRAF V600E 突变。

多个世界贸易中心 (WTC) 灾难暴露人群报告的甲状腺癌风险增加 2 倍，不能完全用监测和医生偏见来解释，因此强调需要调查含有致癌和内分泌干扰元素的粉尘暴露的潜在后果，在甲状腺上。这项研究调查了 20 例 WTC 暴露与 23 例相匹配的未暴露甲状腺癌中 TERT 启动子和 BRAF V600E 突变的存在情况，作为解释过度风险的潜在机制。尽管未发现 BRAF V600E 突变存在显着差异，但与未暴露的甲状腺癌相比，TERT 启动子突变在 WTC 甲状腺癌中显着更为普遍 (P = 0.021)。调整后，WTC 中 TERT 启动子突变的几率明显高于非 WTC 甲状腺癌 [ORadj: 7.11 (95% CI: 1.21-41.83)]。这些结果可能表明，接触世贸中心灰尘中存在的污染物混合物会导致甲状腺癌风险过高，并可能导致甲状腺癌更具侵袭性，因此有必要在健康检查期间对世贸中心响应人员的甲状腺相关症状进行调查。未来的研究应包括长期随访，以提供重要的见解，了解甲状腺特异性生存是否受到世贸中心粉尘暴露的负面影响，以及这是否是由于一种或多种驱动突变的存在。