Perri Francesco, Giordano Antonio, Pisconti Salvatore, Ionna Franco, Chiofalo Maria G, Longo Francesco, Leopardo Davide, Della Vittoria Scarpati Giuseppina, Pezzullo Luciano
Medical Oncology Unit, POC SS Annunziata, Taranto.
Department of Medicine, Division of Hematology & Oncology, Medical University of South Carolina, Charleston, South Carolina, USA.
Anticancer Drugs. 2018 Jul;29(6):483-490. doi: 10.1097/CAD.0000000000000617.
Thyroid nodules are very common, and their frequency is four to five times higher in women than in men. Most of them are benign, with only a very little percentage revealing a malignant neoplasm. About 50% of thyroid nodules are detected by self-palpation of neck, whereas the other 50% are diagnosed by neck ultrasonography and following fine-needle aspiration. Management of thyroid nodules is very difficult, because benign nodules are prevalent, whereas thyroid carcinoma is uncommon, representing only 1% of all malignancies. A standard diagnostic approach is represented by 'first-level' exams, consisting in neck ultrasonography and serum thyroid-stimulating hormone measurement, followed, only for nodules that are suspicious of malignancy, by 'second-level' exams, consisting of fine-needle aspiration and mutational test, which does detect particular DNA mutations present only in malignant cells. In this review, we will analyze the genetics of thyroid cancer and its heterogeneity, and we will briefly describe the current available diagnostic and therapeutic approaches.
甲状腺结节非常常见，其在女性中的发生率比男性高4至5倍。大多数结节是良性的，只有极小比例显示为恶性肿瘤。约50%的甲状腺结节是通过颈部自我触诊发现的，而另外50%是通过颈部超声检查及后续细针穿刺诊断出来的。甲状腺结节的处理非常困难，因为良性结节很普遍，而甲状腺癌并不常见，仅占所有恶性肿瘤的1%。标准的诊断方法以“一级”检查为代表，包括颈部超声检查和血清促甲状腺激素测量，对于可疑恶性的结节，接着进行“二级”检查，包括细针穿刺和突变检测，后者能检测仅存在于恶性细胞中的特定DNA突变。在本综述中，我们将分析甲状腺癌的遗传学及其异质性，并简要描述当前可用的诊断和治疗方法。
