On the prevalence of familial nonmedullary thyroid cancer in multiply affected kindreds
On the prevalence of familial nonmedullary thyroid cancer in multiply affected kindreds
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DOI：
10.1089/thy.2006.16.181
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发表时间：
2006-02-01
期刊：
影响因子：
6.6
通讯作者：
Charkes, ND
中科院分区：
文献类型：
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作者：
Charkes, ND
家族性非髓样甲状腺癌（FNMTC）的临床和遗传学研究产生了关于肿瘤侵袭性的相互矛盾的结果，以及其遗传组成的不确定性。在大多数多个受累家庭的报告中，亲属的组成有利于2个受累成员的家庭。使用国家癌症研究所监测流行病学和最终结果（SEER）分支提供的分化型甲状腺癌（DTC）数据和马约诊所的细针穿刺数据，我发现在一个9人一级家庭中2例散发性DTC（RR）的可能性为所有DTC家庭的1.25%，占文献报道的306个多次打击家庭的39.4%。为了研究其余受影响的家庭，我使用了伯努利试验模型的确切概率。60.6%的非RR、多发病家庭大多集中在2 - 5人的亲属中。在2次发病的家庭中，62%-69%的受影响成员是散发（RR）病例。在有3个或更多受影响成员的家庭中，不到6%的家庭有1个或更多的散发（R）病例，不到0.15%的家庭有2个或更多病例。在3至5名受影响成员的家庭中，超过96%的受影响成员具有家族性（F）特征。大约338例DTC病例中有1例携带F性状。由于大约40%的多受影响的成员一级激酶的DTC，和一个显着的大多数2击中家庭，是由临床上明显的，散发的情况下，只有临床和遗传调查FNMTC应集中在家庭的3个或更多的受影响的成员。
Clinical and genetic studies of familial nonmedullary thyroid cancer (FNMTC) have yielded conflicting results concerning the aggressiveness of the tumors, and uncertainty of their genetic makeup. In most reports of multiply affected families, the composition of the kindreds has favored families of 2 affected members. Using data for differentiated thyroid cancer (DTC) provided by the Surveillance Epidemiology and End Results (SEER) branch of the National Cancer Institute, and fine-needle aspiration data from Mayo Clinic, I found that the likelihood of 2 cases of sporadic DTC (RR) in a 9-member first-degree family was 1.25% of all DTC families, amounting to 39.4% of 306 multi-hit families reported in the literature. To study the remaining affected families I used the Bernouilli trials model of exact probability. The 60.6% of non-RR, multiply affected families are mostly concentrated in kindreds of 2 to 5 affected members. In 2-hit families, 62%-69% of affected members are sporadic (RR) cases. In families having 3 or more affected members, fewer than 6% have 1 or more sporadic (R) cases, and fewer than 0.15% have 2 or more. In families of 3 to 5 affected members, more than 96% of affected members have the familial (F) trait. Approximately 1 of 338 DTC cases carries the F-trait. Since approximately 40% of multiply affected member first-degree kindreds of DTC, and a significant majority of 2-hit families, are composed of clinically evident, sporadic cases only clinical and genetic investigations of FNMTC should center on families of 3 or more affected members.