Familial testicular cancer in a single-centre population
Familial testicular cancer in a single-centre population
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DOI：
10.1016/s0959-8049(99)00140-9
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发表时间：
1999-09-01
影响因子：
8.4
通讯作者：
Hoekstra, HJ
中科院分区：
文献类型：
--
作者：
Sonneveld, DJA;Sleijfer, DT;Hoekstra, HJ
家族性睾丸癌的发生提示疾病的遗传易感性。遗传易感性也可能反映在双侧睾丸肿瘤的发生和易患睾丸癌的家族中泌尿生殖系统发育异常的高比率上。在这项研究中，回顾分析了1977年至1997年间接受治疗的693名单中心人群中的家族性睾丸癌病例的比例，并估计了患者一级亲属的相对风险(RR)。此外，对家族性睾丸癌患者的双侧睾丸肿瘤和泌尿生殖系统发育异常的存在进行了评估。693例患者中有24例(3.5%)有睾丸癌的一级亲属。这24个病例属于17个家庭；在这17个家庭中的7个家庭中，两个受影响的一级家庭成员都是693名患者的研究人群的一部分。因此，研究的693名患者总共属于686个家庭。因此，家族性睾丸癌的实际比例为2.5%(686个家庭中有17个)。家族性病例包括11对兄弟姐妹，其中2对同卵双胞胎，1对有两个表亲，6对父子(共36例，12例在其他地方治疗)。对一级亲属的RR估计显示，睾丸癌患者兄弟(P<；0.001)的RR增加了9到13倍，父亲的RR增加了2倍(P=不显著(N.S))。36例家族性睾丸癌中，双侧睾丸癌2例(5.6%)，睾丸未降4例(11.1%)，腹股沟疝3例(8.3%)，肾发育不良1例(2.8%)。目前有关睾丸癌家族发病的资料可能支持遗传因素在睾丸癌病因学中的作用。(C)1999爱思唯尔科学有限公司。保留所有权利。
Familial occurrence of testicular cancer suggests a genetic predisposition to the disease. A genetic susceptibility may also be reflected by the occurrence of bilateral testicular neoplasms and the high rates of urogenital developmental anomalies in families prone to testicular cancer. In this study, the proportion of familial testicular cancer cases was analysed retrospectively in a single-centre population of 693 testicular cancer patients treated between 1977 and 1997 and the relative risk (RR) for first-degree relatives of patients was estimated. In addition, the existence of bilateral testicular neoplasms and urogenital developmental anomalies in familial testicular cancer patients was evaluated. 24 of the 693 patients (3.5%) had a first-degree relative with testicular cancer. These 24 cases belonged to 17 families; in 7 of these 17 families both affected first-degree family members were part of the study population of 693 patients. Consequently, the 693 studied patients belonged to a total of 686 families. Thus, the actual proportion of familial testicular cancer was 2.5% (17 of 686 families). The familial cases consisted of 11 brother pairs, including 2 pairs of identical twins and 1 pair which also had two affected cousins, and 6 father-son pairs (in total 36 cases, 12 treated elsewhere). Estimates of the RR to first-degree relatives showed a 9- to 13-fold increased RR to brothers (P < 0.001) and a 2-fold increased RR to fathers (P = non-significant (n.s)) of testicular cancer patients. Among the 36 patients with familial testicular cancer, 2 (5.6%) had bilateral testicular cancer, 4 (11.1%) had undescended testis, 3 (8.3%) had inguinal hernia, and 1 (2.8%) showed renal hypoplasia. The present data on familial occurrence of testicular cancer may lend support to a role of genetic factors in the aetiology of testicular cancer. (C) 1999 Elsevier Science Ltd. All rights reserved.