Division of Otolaryngology-Head and Neck Surgery, University of Utah School of Medicine, Salt Lake City.
JAMA Otolaryngol Head Neck Surg. 2013 Nov;139(11):1171-4. doi: 10.1001/jamaoto.2013.4987.
Determining if relatives of patients diagnosed as having papillary thyroid carcinoma (PTC) are at increased risk of developing the same cancer--and if so, which relatives and to what degree--would help identify those who require closer clinical attention. This could lead to earlier cancer detection and improved prognoses.
To define the familial risk of PTC using a unique population research database.
DESIGN, SETTING, PARTICIPANTS: Retrospective review at a tertiary care facility using the Utah Population Database, which is linked to medical records and the Utah Cancer Registry, from 1966 through 2011. The study population comprised 4460 patients diagnosed as having PTC in Utah between 1966 and 2011 and their first- through fifth-degree relatives and spouses. These patients were compared 5:1 with matched, population-based controls.
Statistically significant increased risk of PTC in any first- through fifth-degree relatives or spouses of patients diagnosed as having this cancer.
First-, second-, and third-degree relatives of PTC probands had a significant increased risk of developing this cancer compared with population controls. First-degree relatives of probands were at a 5.4-fold increased risk (P < 10(-15)) of being diagnosed as having this cancer themselves. Second- and third-degree relatives had a 2.2-fold (P < 10(-11)) and 1.8-fold increased risk (P < 10(-8)), respectively. Siblings of probands were at highest risk (odd ratio, 6.8; P < 10(-15)). There was no significant increased risk observed in spouses of probands.
In the largest population study to date, a high risk of PTC is confirmed in first-degree relatives. Furthermore, significant increased risk extends to second- and third-degree relatives but not to spouses of probands. Translational studies are needed to better define the genetic predisposition to familial papillary thyroid cancer and for the development and implementation of optimal screening approaches.
确定患有甲状腺乳头癌（PTC）的患者的亲属是否有更高的患癌风险——如果有，是哪些亲属，风险程度如何——这将有助于识别那些需要更密切临床关注的人。这可能会导致更早的癌症检测和改善预后。
利用独特的人群研究数据库来确定 PTC 的家族风险。
设计、环境、参与者：在一家三级保健机构进行的回顾性研究，使用犹他州人群数据库，该数据库与医疗记录和犹他州癌症登记处相关联，时间范围为 1966 年至 2011 年。研究人群包括 1966 年至 2011 年期间在犹他州被诊断患有 PTC 的 4460 名患者及其一至五等亲属和配偶。这些患者与匹配的基于人群的对照组进行了 5:1 的比较。
患有这种癌症的患者的任何一至五等亲属或配偶中 PTC 的统计上显著增加的风险。
与人群对照组相比，PTC 先证者的一级、二级和三级亲属患这种癌症的风险显著增加。先证者的一级亲属患这种癌症的风险增加了 5.4 倍（P < 10(-15))。二级和三级亲属的风险分别增加了 2.2 倍（P < 10(-11)) 和 1.8 倍（P < 10(-8))。先证者的兄弟姐妹风险最高（比值比，6.8；P < 10(-15))。先证者的配偶没有观察到显著增加的风险。
在迄今为止最大的人群研究中，一级亲属中 PTC 的高风险得到了证实。此外，显著增加的风险延伸到二级和三级亲属，但不包括先证者的配偶。需要进行转化研究，以更好地确定家族性甲状腺乳头癌的遗传易感性，并制定和实施最佳的筛查方法。
