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家族性睾丸癌的患病率:对两组患者群体的分析及文献综述

The prevalence of familial testicular cancer: an analysis of two patient populations and a review of the literature.

作者信息

Dieckmann K P, Pichlmeier U

机构信息

Urologische Abteilung, Albertinen-Krankenhaus, Hamburg, Germany.

出版信息

Cancer. 1997 Nov 15;80(10):1954-60.

PMID:9366298
Abstract

BACKGROUND

Undescended testes and antecedent testicular tumor are recognized risk factors for testicular germ cell cancer. It has been suggested that a family history of testicular cancer constitutes another major risk indicator. This postulation is mainly based on clinical observations and on very few systematic investigations. In the current study, the authors analyzed the proportion of familial testicular cancer in their study population and estimated the relative risk created by a family history of the disease.

METHODS

The proportion of familial testicular cancer was analyzed in a prospective multicentric study involving 1692 patients. The median ages of patients with and without a family history of the disease were compared. In a different patient population consisting of 518 patients and 531 age-matched controls, the frequency of family history was investigated and the relative risk calculated. In addition, a literature survey was performed to look for previous systematic reports on familial testicular cancer.

RESULTS

In the prospective study, 18 patients (1.1%; 95% confidence interval, 0.63-1.68%) had a first-degree relative afflicted with testicular cancer. Age at presentation was not significantly different between patients with a family history and those without. In the retrospective series, the proportion of those with a family history was 1.7% (95% confidence interval [CI], 0.80-3.27%). There was a 3.1-fold increased relative risk (95% CI, 0.77-17.95) for first-degree relatives of patients with testicular cancer. Ten previous reports on familial testicular cancer were identified in the literature. Combining the results of those previous reports and the current study led to a weighted mean prevalence of familial testicular cancer of 1.35% (95% CI, 1.12-1.58%).

CONCLUSIONS

The current study underscores that susceptibility to testicular germ cell cancer is influenced by genetic factors. A family history of testicular cancer is encountered in about 1.35% of patients. The relative risk for first-degree relatives of patients with the disease is increased by a factor of 3-10.

摘要

背景

隐睾和既往睾丸肿瘤是公认的睾丸生殖细胞癌的危险因素。有人提出,睾丸癌家族史是另一个主要的风险指标。这一假设主要基于临床观察和极少的系统研究。在本研究中,作者分析了其研究人群中家族性睾丸癌的比例,并估计了该疾病家族史所产生的相对风险。

方法

在一项涉及1692例患者的前瞻性多中心研究中分析家族性睾丸癌的比例。比较有和没有该疾病家族史患者的中位年龄。在由518例患者和531例年龄匹配的对照组成的另一组患者中,调查家族史的频率并计算相对风险。此外,进行了文献调查以寻找先前关于家族性睾丸癌的系统报告。

结果

在前瞻性研究中,18例患者(1.1%;95%置信区间,0.63 - 1.68%)有患睾丸癌的一级亲属。有家族史和无家族史的患者就诊时的年龄无显著差异。在回顾性系列研究中,有家族史者的比例为1.7%(95%置信区间[CI],0.80 - 3.27%)。睾丸癌患者的一级亲属的相对风险增加了3.1倍(95% CI,0.77 - 17.95)。文献中确定了10篇先前关于家族性睾丸癌的报告。将先前那些报告的结果与本研究结果相结合,得出家族性睾丸癌的加权平均患病率为1.35%(95% CI,1.12 - 1.58%)。

结论

本研究强调睾丸生殖细胞癌的易感性受遗传因素影响。约1.35%的患者有睾丸癌家族史。该疾病患者的一级亲属的相对风险增加3至10倍。

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