Rao Sarika N, Bernet Victor
Division of Endocrinology, Mayo Clinic, Jacksonville, FL, USA.
Mol Genet Genomic Med. 2020 Sep;8(9):e1288. doi: 10.1002/mgg3.1288. Epub 2020 May 21.
Indeterminate thyroid nodules are diagnosed in up to 30% of fine-needle aspirations and the risk of malignancy in these cases are highly variable. Consequently, managing these nodules has been a challenge. While a diagnostic thyroidectomy would help clarify the pathology, there is the risk of developing surgical-related complications for a procedure that may not have been necessary and associated high costs. Genomic testing of indeterminate thyroid nodules may help better guide management.
We present an unbiased comprehensive review of available molecular testing for classifying indeterminate thyroid nodules, as well as their strengths and limitations, with the objective to allow practitioners to choose the best testing modality for their patients.
Molecular testing of these nodules provided a platform to help distinguish benign versus malignant nodules, providing more confidence to rule in or rule out the likelihood of thyroid cancer in indeterminate nodules.
Genomic testing has evolved to more comprehensive panels to better stratify indeterminate nodules, including Hürthle cell neoplasms and noninvasive follicular neoplasm with papillary-like nuclear features. Understanding the methodology of each available test improves patient care and reduces unnecessary costs.
在高达30%的细针穿刺活检中会诊断出甲状腺结节性质不确定的情况，且这些病例中恶性肿瘤的风险差异很大。因此，处理这些结节一直是一项挑战。虽然诊断性甲状腺切除术有助于明确病理，但对于可能并非必要的手术，存在发生手术相关并发症的风险以及相关的高昂费用。对性质不确定的甲状腺结节进行基因组检测可能有助于更好地指导治疗。
我们对用于对性质不确定的甲状腺结节进行分类的现有分子检测方法及其优缺点进行了客观全面的综述，目的是让从业者为患者选择最佳检测方式。
对这些结节进行分子检测提供了一个平台，有助于区分良性与恶性结节，为判断性质不确定的结节中甲状腺癌的可能性提供了更大的信心。
基因组检测已发展为更全面的检测组合，以更好地对性质不确定的结节进行分层，包括许特莱细胞肿瘤和具有乳头样核特征的非侵袭性滤泡性肿瘤。了解每种现有检测方法的原理有助于改善患者护理并降低不必要的费用。
