Malchoff Carl D, Malchoff Diana M
Division of Endocrinology, University of Connecticut Health Center, Farmington, CT 06030, USA.
Cancer Control. 2006 Apr;13(2):106-10. doi: 10.1177/107327480601300204.
Nonmedullary thyroid carcinomas (NMTCs) originate from the thyroid epithelial cells and, until recently, were thought to arise sporadically without an inherited genetic predisposition. However, evidence of a familial predisposition to NMTC is accumulating.
This review addresses the strengths, weaknesses, and clinical implications of the observations indicating an inherited genetic predisposition to NMTC. These observations include epidemiologic studies, descriptions of large kindreds, and genetic analyses.
Familial NMTC (FNMTC) may be caused by an inherited genetic predisposition and can be divided into two groups. The first group has an increased prevalence of NMTC within a familial cancer syndrome with a preponderance of nonthyroidal tumors. In the second group the predominant neoplasm is NMTC, although other neoplasms may occur with increased frequency. These disorders are the focus of this review.
A family history in NMTC patients should be directed at detecting those familial tumor syndromes with a preponderance of NMTC as well as those familial tumor syndromes enriched in NMTC but with a preponderance of nonthyroidal tumors. Since the recurrence rates may be greater in FNMTC than in sporadic NMTC, careful monitoring is indicated for affected individuals. The advantages and disadvantages of screening asymptomatic members of FNMTC kindreds with thyroid ultrasound are discussed, and the final decision is deferred to the treating physicians and their patients. It is hoped that positional cloning research will identify the FNMTC susceptibility genes.
非髓样甲状腺癌（NMTC）起源于甲状腺上皮细胞，直到最近，人们还认为其是散发性发生的，不存在遗传易感性。然而，越来越多的证据表明NMTC存在家族易感性。
本综述探讨了表明NMTC存在遗传易感性的观察结果的优势、劣势及临床意义。这些观察结果包括流行病学研究、大家族描述及基因分析。
家族性NMTC（FNMTC）可能由遗传易感性引起，可分为两组。第一组在家族性癌症综合征中NMTC患病率增加，且以非甲状腺肿瘤为主。第二组以NMTC为主要肿瘤，尽管其他肿瘤的发生频率可能增加。这些疾病是本综述的重点。
NMTC患者的家族史应旨在检测以NMTC为主的家族性肿瘤综合征以及富含NMTC但以非甲状腺肿瘤为主的家族性肿瘤综合征。由于FNMTC的复发率可能高于散发性NMTC，因此建议对受影响个体进行密切监测。讨论了用甲状腺超声筛查FNMTC家族无症状成员的利弊，最终决定留给治疗医生及其患者。希望定位克隆研究能够鉴定出FNMTC易感基因。
