Background:Thyroid cancer is the most common endocrine malignancy, and accurate diagnosis is crucial for effective management. Fine needle aspiration cytology, guided by the Bethesda System for Reporting Thyroid Cytopathology, categorizes thyroid nodules into six categories, with Bethesda III and IV representing indeterminate diagnoses that pose significant challenges for clinical decision-making. Understanding the molecular profiles of these categories may enhance diagnostic accuracy and guide treatment strategies.Methods:This study retrospectively analyzed data from 217 patients with Bethesda III and IV thyroid nodules who underwent ThyroSeq v3 molecular testing followed by thyroid surgery at McGill University teaching hospitals. The analysis focused on the presence of specific molecular mutations, copy number alterations (CNAs), and gene expression profiles (GEPs) within these nodules. The relationship between these molecular findings and the clinico-pathological features of the patients was also examined.Results:This study identified notable differences in the molecular landscape of Bethesda III and IV thyroid nodules. Bethesda IV nodules exhibited a higher prevalence of CNAs and distinct GEPs compared to Bethesda III nodules. Interestingly, the BRAFV600E mutation was found exclusively in Bethesda III nodules, which correlated with more aggressive malignant behavior. These findings underscore the potential of molecular profiling to differentiate between the clinical behaviors of these indeterminate nodule categories.Conclusions:Molecular profiling, including the assessment of CNAs, GEPs, and specific mutations like BRAFV600E, provides valuable insights into the nature of Bethesda III and IV thyroid nodules. The distinct molecular characteristics observed between these categories suggest that such profiling could be instrumental in improving diagnostic accuracy and tailoring treatment approaches, ultimately enhancing patient outcomes in thyroid cancer management.
背景：甲状腺癌是最常见的内分泌恶性肿瘤，其准确诊断对有效治疗至关重要。基于Bethesda甲状腺细胞病理学报告系统的细针穿刺细胞学检查将甲状腺结节分为六类，其中Bethesda III类和IV类代表诊断不确定的结节，对临床决策构成重大挑战。了解这些类别的分子特征可能有助于提高诊断准确性并指导治疗策略。 方法：本研究回顾性分析了217例Bethesda III类和IV类甲状腺结节患者的数据，这些患者在麦吉尔大学教学医院接受了ThyroSeq v3分子检测并随后进行了甲状腺手术。分析重点聚焦于这些结节中特定分子突变、拷贝数变异（CNAs）及基因表达谱（GEPs）的存在情况，并探讨了这些分子发现与患者临床病理特征之间的关系。 结果：研究发现Bethesda III类和IV类甲状腺结节在分子特征上存在显著差异。与Bethesda III类结节相比，Bethesda IV类结节表现出更高的CNAs发生率及独特的GEPs。值得注意的是，BRAFV600E突变仅在Bethesda III类结节中被发现，且与更具侵袭性的恶性行为相关。这些发现强调了分子特征分析在区分这两类不确定结节临床行为方面的潜力。 结论：分子特征分析，包括对CNAs、GEPs及BRAFV600E等特定突变的评估，为理解Bethesda III类和IV类甲状腺结节的性质提供了重要依据。两类结节间观察到的独特分子特征表明，此类分析有助于提高诊断准确性并制定个体化治疗方案，最终改善甲状腺癌患者的临床预后。
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