Division of Molecular Genetic Epidemiology, German Cancer Research Center, Im Neuenheimer Feld 580, Heidelberg 69120, Germany.
J Med Genet. 2013 Jun;50(6):373-82. doi: 10.1136/jmedgenet-2012-101412. Epub 2013 Apr 13.
We aimed to estimate lifetime cumulative risk of thyroid cancer (CRTC) in first-degree relatives of patients with non-medullary thyroid cancers (NMTC), including papillary (PTC)/follicular/oxyphilic/anaplastic thyroid carcinoma, by histology and age at diagnosis in patients and their relatives.
A population-based cohort of 63 495 first-degree relatives of 11 206 NMTC patients diagnosed in 1955-2009 in Nordic countries was followed for cancer incidence. Standardised incidence ratios (SIRs) were calculated using histology-specific, age-specific, sex-specific, period-specific and country-specific incidence rates as reference.
The 0-84-year CRTC in female relatives of a patient with PTC was 2%, representing a threefold increase over the general population risk (SIR=2.9, 95% CI 2.4 to 3.4; Men: CRTC=1%, SIR=2.5, 95% CI 1.9 to 3.3). When there were ≥2 PTC patients diagnosed at age <60 years in a family, CRTC for female relatives was 10% (male 24%). Twins had a 23-fold increased risk of concordant PTC. Family history of follicular/oxyphilic/anaplastic carcinoma increased CRTC in relatives to about 1-2%. Although no familial case of concordant oxyphilic/anaplastic carcinoma was found, familial risks of discordant histology types of NMTC were interchangeably high for most of the types, for example, higher risk of PTC when a first-degree relative had follicular (SIR=3.0, 95%CI 1.7 to 4.9) or anaplastic (SIR=3.6, 95% CI 1.2 to 8.4) carcinoma. The earlier a patient was diagnosed with PTC in a family, the higher was the SIR in his/her younger relatives. There was a tendency towards concordant age at diagnosis of thyroid cancer among relatives of PTC patients.
This study provides clinically relevant risk estimates for family members of NMTC patients.
我们旨在通过患者及其亲属的组织学和诊断时年龄，来估计非髓样甲状腺癌（NMTC）患者一级亲属的甲状腺癌终生累积风险（CRTC），包括乳头状（PTC）/滤泡性/嗜酸性/间变性甲状腺癌。
1955-2009 年在北欧国家诊断的 11206 例 NMTC 患者的 63495 名一级亲属组成了一个基于人群的队列，对癌症发病情况进行随访。使用组织学特异性、年龄特异性、性别特异性、时期特异性和国家特异性发病率作为参考，计算标准化发病比（SIR）。
PTC 患者女性一级亲属 0-84 岁时的 CRTC 为 2%，比普通人群的风险增加了三倍（SIR=2.9，95%CI 2.4 至 3.4；男性：CRTC=1%，SIR=2.5，95%CI 1.9 至 3.3）。当一个家族中有≥2 例 PTC 患者在 60 岁前被诊断时，女性亲属的 CRTC 为 10%（男性为 24%）。双胞胎患同一致密性 PTC 的风险增加了 23 倍。滤泡性/嗜酸性/间变性甲状腺癌家族史使亲属的 CRTC 增加到 1-2%左右。虽然未发现同一致密性嗜酸性/间变性甲状腺癌的家族病例，但 NMTC 的大多数不同组织学类型的家族风险也同样较高，例如，一级亲属患有滤泡性甲状腺癌（SIR=3.0，95%CI 1.7 至 4.9）或间变性甲状腺癌（SIR=3.6，95%CI 1.2 至 8.4）时，患 PTC 的风险更高。患者在家族中被诊断为 PTC 的时间越早，其年轻亲属的 SIR 越高。PTC 患者亲属的甲状腺癌诊断年龄有一致的趋势。
本研究为 NMTC 患者的家庭成员提供了具有临床意义的风险估计。
