Malchoff C D, Malchoff D M
Department of Surgery, Center for Molecular Medicine, University of Connecticut Health Center, Farmington 06030-1110, USA.
Semin Surg Oncol. 1999 Jan-Feb;16(1):16-8. doi: 10.1002/(sici)1098-2388(199901/02)16:1<16::aid-ssu4>3.0.co;2-7.
It is well-known that medullary thyroid carcinoma occurs in a familial form as part of the multiple endocrine neoplasia (MEN) 2 syndromes. However, it is less well-recognized that nonmedullary thyroid carcinoma (NMTC) sometimes is familial. Arising from the thyroid epithelial cell, the NMTCs include papillary, follicular, and anaplastic thyroid carcinoma. Although most NMTC are sporadic, there is increasing evidence for a familial form. When inherited, NMTC is autosomal dominant with partial penetrance, and it is not associated consistently with other malignancies. The average age of onset is about 38 years, and in some cases, it may be more aggressive than sporadic PTC; up to 5% of subjects with NMTC have a family history positive for the same disorder. The etiologic gene(s) have not been identified, although positional cloning of these genes may be possible. The evidence for and characteristics of familial NMTC will be reviewed, and the clinical and research implications will be discussed.
众所周知，甲状腺髓样癌以家族性形式出现，是多发性内分泌肿瘤（MEN）2综合征的一部分。然而，人们对非髓样甲状腺癌（NMTC）有时具有家族性这一点认识较少。NMTC起源于甲状腺上皮细胞，包括乳头状、滤泡状和未分化甲状腺癌。虽然大多数NMTC是散发性的，但越来越多的证据表明存在家族性形式。当NMTC遗传时，呈常染色体显性遗传且具有部分外显率，并且它与其他恶性肿瘤没有始终如一的关联。平均发病年龄约为38岁，在某些情况下，它可能比散发性乳头状甲状腺癌（PTC）更具侵袭性；高达5%的NMTC患者有同一疾病的家族史阳性。尽管可能对这些基因进行定位克隆，但病因基因尚未确定。本文将综述家族性NMTC的证据和特征，并讨论其临床和研究意义。
