Lax S F, Semlitsch G, Noiges R, Höfler G
Institut für Pathologie der Karl-Franzens-Universität Graz.
Acta Med Austriaca. 2000;27(2):49-50. doi: 10.1046/j.1563-2571.2000.270205.x.
Autonomously functioning thyroid nodules are frequently associated with mutations of the thyrotropin receptor. We analyzed a part of exon 10 of the thyrotropin receptor gene (base pairs 1762-1976) by direct sequencing and found missense mutations in 5 of 14 cases (codons 629, 631, 632, 633). Histologically, 3 of the 14 nodules were adenomas whereas 11 were hyperplasias. Nodules with mutations did not show significant differences from nodules without mutations with respect to age, histology, size, additional (non-functional) nodules and clinical symptomatology. Our results confirm that thyrotropin receptor mutations are involved in the development of autonomously functioning thyroid nodules. In this context, the terms hyperplasia and neoplasia should be reevaluated.
自主功能性甲状腺结节常与促甲状腺激素受体突变相关。我们通过直接测序分析了促甲状腺激素受体基因第10外显子的一部分（碱基对1762 - 1976），在14例中的5例（密码子629、631、632、633）发现了错义突变。组织学上，14个结节中有3个为腺瘤，11个为增生。有突变的结节与无突变的结节在年龄、组织学、大小、额外的（无功能的）结节及临床症状方面无显著差异。我们的结果证实促甲状腺激素受体突变参与了自主功能性甲状腺结节的发生发展。在此背景下，增生和肿瘤形成这两个术语应重新评估。
