Department of Endocrinology and Nutrition, Hospital Universitario Ramón y Cajal, IRYCIS, Madrid, Spain.
Department of Oncology and Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
Clin Endocrinol (Oxf). 2023 Jun;98(6):753-762. doi: 10.1111/cen.14882. Epub 2023 Feb 8.
Advances in our understanding of the molecular biology of thyroid tumours is being rapidly translated into their clinical management. This review summarizes the current use of molecular testing in thyroid tumours, focusing on their usefulness as diagnostic and prognostic tools to guide treatment with consideration of present limitations.
Considerations about molecular testing applications for the diagnosis and treatment of thyroid tumours are divided into four sections/roles: (1) evaluating cytologically indeterminate thyroid nodules; (2) guiding extent of surgery in indeterminate thyroid nodules; (3) completing histological characterization of thyroid tumours and (4) identifying actionable mutations in advanced progressive thyroid cancers.
Genomic testing can improve the presurgical malignancy risk assessment in indeterminate thyroid nodules. However, a prior in-depth analysis of institutional quality and outcomes of sonographical, cytological and histological characterization of thyroid tumours is necessary. Presently, it remains uncertain whether knowing the molecular profile of a cytologically indeterminate thyroid nodule might be advantageous to modify the extent of initial surgery. Molecular characterization of thyroid tumours can be a valuable adjunct to morphological diagnosis in some challenging cases, such as in low-risk follicular cell-derived neoplasms, or rare tumours. Finally, as selective kinase inhibitors are available, molecular testing in locally advanced/metastatic progressive thyroid cancers should also be integrated into the institutional clinical management pathway to improve outcomes and limit toxicity.
Molecular testing needs to be implemented into the local evidence-based clinical management thyroid nodule/cancer pathways to improve its diagnostic and prognostic value and to optimize cost-effectiveness.
我们对甲状腺肿瘤分子生物学的理解的进步正在迅速转化为其临床管理。本综述总结了目前在甲状腺肿瘤中应用分子检测的情况，重点讨论了其作为诊断和预后工具的用途，以考虑到目前的局限性来指导治疗。
对甲状腺肿瘤的诊断和治疗应用分子检测的考虑分为四个部分/作用：（1）评估细胞学不确定的甲状腺结节；（2）指导不确定甲状腺结节的手术范围；（3）完成甲状腺肿瘤的组织学特征描述；（4）识别晚期进展性甲状腺癌中的可操作突变。
基因组检测可以提高不确定甲状腺结节的术前恶性风险评估。然而，有必要对机构的质量和超声、细胞学和组织学特征的甲状腺肿瘤进行深入分析。目前，尚不确定了解细胞学不确定的甲状腺结节的分子特征是否有利于修改初始手术的范围。在某些具有挑战性的病例中，如低风险滤泡细胞来源的肿瘤或罕见肿瘤，甲状腺肿瘤的分子特征可以作为形态学诊断的有价值的辅助手段。最后，由于选择性激酶抑制剂的可用性，局部晚期/转移性进展性甲状腺癌中的分子检测也应纳入机构临床管理途径，以改善结果并限制毒性。
需要将分子检测纳入基于证据的局部临床管理甲状腺结节/癌症途径，以提高其诊断和预后价值，并优化成本效益。
