Familial Nonmedullary Thyroid Cancer: A Review of the Genetics
Familial Nonmedullary Thyroid Cancer: A Review of the Genetics
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DOI：
10.1089/thy.2009.0216
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发表时间：
2010-07-01
期刊：
影响因子：
6.6
通讯作者：
Newbold, Kate
中科院分区：
文献类型：
--
作者：
Khan, Ayesha;Smellie, James;Newbold, Kate
目的：甲状腺癌是最常见的内分泌恶性肿瘤，其发病率持续增加，欧盟每年诊断出超过 19,000 例新病例。尽管非髓样甲状腺癌 (NMTC) 大多是散发性的，但有充分证据表明，非髓样甲状腺癌 (NMTC) 与其他孟德尔癌症综合征（例如家族性腺瘤性息肉病和考登综合征）无关，并且有家族性形式，并且被认为会导致更具侵袭性的疾病。就在十多年前，人们开始寻找家族性 NMTC (FNMTC) 的遗传易感位点。这篇综述详细介绍了迄今为止在寻找 FNMTC 潜在基因方面进行的遗传学研究。设计：对 FNMTC 遗传学和家族性乳头状甲状腺癌（FNMTC 的细分）的英语文献进行电子 PubMed 检索。对所选论文的参考文献进行了审查，以确定原始搜索标准中未找到的进一步研究。主要结果：已确定了包含 FNMTC 基因的 6 个潜在区域：MNG1 (14q32)、TCO (19p13.2)、fPTC/PRN (1q21)、NMTC1 (2q21)、FTEN (8p23.1-p22) 和端粒-端粒酶复合物。据报道已被排除的重要基因有 RET、TRK、MET、APC、PTEN 和 TSHR。 结论：FNMTC 的遗传学是医学研究中一个令人兴奋的领域，有可能实现甲状腺癌的个体化管理。迄今为止，研究都是针对小家庭群体，使用不同的 FNMTC 诊断标准。结果是矛盾的，需要利用新兴分子筛选测试进行进一步的大规模遗传学研究，以阐明 FNMTC 的潜在遗传基础。
Objective: Thyroid cancer, the commonest of endocrine malignancies, continues to increase in incidence with over 19,000 new cases diagnosed in the European Union per year. Although nonmedullary thyroid cancer (NMTC) is mostly sporadic, evidence for a familial form, which is not associated with other Mendelian cancer syndromes (e. g., familial adenomatous polyposis and Cowden's syndrome), is well documented and thought to cause more aggressive disease. Just over a decade ago, the search for a genetic susceptibility locus for familial NMTC (FNMTC) began. This review details the genetic studies conducted thus far in the search for potential genes for FNMTC.Design: An electronic PubMed search was performed from the English literature for genetics of FNMTC and genetics of familial papillary thyroid carcinoma (subdivision of FNMTC). The references from the selected papers were reviewed to identify further studies not found in the original search criteria.Main Outcome: Six potential regions for harboring an FNMTC gene have been identified: MNG1 (14q32), TCO (19p13.2), fPTC/PRN (1q21), NMTC1 (2q21), FTEN (8p23.1-p22), and the telomere-telomerase complex. Important genes reported to have been excluded are RET, TRK, MET, APC, PTEN, and TSHR.Conclusion: The genetics of FNMTC is an exciting field in medical research that has the potential to permit individualized management of thyroid cancer. Studies thus far have been on small family groups using varying criteria for the diagnosis of FNMTC. Results have been contradictory and further large-scale genetic studies utilizing emerging molecular screening tests are warranted to elucidate the underlying genetic basis of FNMTC.