Division of Pathology, ASST Valle Olona, Busto Arsizio (VA).
Pathologica. 2023 Aug;115(4):205-216. doi: 10.32074/1591-951X-887.
Thyroid nodules are commonly encountered in clinical practice, affecting up to 50% of the population. The large majority of thyroid lumps are benign incidental findings detected by imaging, while approximately 5-15% harbor malignancy. For a target patient's care, it is of paramount importance to identify and treat thyroid malignancy, while preventing unnecessary invasive surgery in patients with benign lesions. Although fine needle aspiration (FNA) associated with cytological examination provides malignant risk information, 20-30% of diagnoses fall into the "indeterminate thyroid nodule" (ITN) category. ITN clinical management remains a challenging issue for physicians since the ITN risk of malignancy varies from 5% to 40% and most thyroid nodules undergo overtreatment with surgery procedures. ITN molecular testing may better define malignant risk in the single nodule and is able to discriminate with accuracy benign from malignant nodules. Nowadays there are different technologies and different molecular panels, each with its own specificity, sensitivity and predictive values. In view of widespread introduction of molecular testing , some outstanding questions remain and are addressed in the present review such as the presence of molecular panels acting as "rule in" or "rule out" tools, the effective impact of testing results in the clinical decision-making process, and the prohibitive cost of commercial assays associated with the lack of test reimbursement in national health systems.
甲状腺结节在临床实践中很常见，影响多达 50%的人群。大多数甲状腺肿块是通过影像学检查偶然发现的良性病变，而大约有 5-15%的肿块存在恶性病变。为了满足目标患者的护理需求，识别和治疗甲状腺恶性肿瘤至关重要，同时避免对良性病变患者进行不必要的侵入性手术。虽然细针穿刺（FNA）联合细胞学检查可提供恶性风险信息，但仍有 20-30%的诊断属于“不确定甲状腺结节”（ITN）类别。由于 ITN 的恶性风险从 5%到 40%不等，而且大多数甲状腺结节都因手术治疗而过度治疗，因此 ITN 的临床管理对医生来说仍然是一个具有挑战性的问题。ITN 的分子检测可以更好地确定单个结节的恶性风险，并且能够准确地区分良性和恶性结节。如今，有不同的技术和不同的分子检测面板，每种技术和面板都有其自身的特异性、敏感性和预测值。鉴于分子检测的广泛应用，本综述讨论了一些悬而未决的问题，例如是否存在作为“阳性”或“阴性”工具的分子检测面板，检测结果对临床决策过程的有效影响，以及商业检测的高昂费用，这与国家医疗体系缺乏检测报销有关。
