Morand Grégoire B, Tessler Idit, Thurnheer Simon E, Payne Kayla E, Noik Maxine, Krasner Josh, Yamin Tzahi, Pusztaszeri Marc P, Payne Richard J, Avior Galit
Department of Otolaryngology - Head and Neck Surgery, Jewish General Hospital, McGill University, 3755 Cote Ste Catherine Road, Montreal, Canada.
University Hospital Zurich, Zurich, Switzerland.
Thyroid Res. 2025 Apr 8;18(1):14. doi: 10.1186/s13044-025-00231-0.
Molecular testing is a well-established tool that assists in the management of thyroid nodules and allows classification in distinct molecular alteration patterns: BRAF-like, RAS-like and non-BRAF-non-RAS (NBNR). Yet classical TNM classification and ATA guidelines currently rely on tumor size for risk stratification. In this study, we compared tumor behavior according to molecular alteration patterns versus tumor size.
Retrospective multicenter multinational study of thyroid nodules that underwent preoperative molecular profiling with ThyGenX/ThyGeNEXT or ThyroSeq V3 between 2015 and 2022. Clinical characteristics, including demographics, cytology results, tumor size, surgical pathology, and molecular alterations, were analyzed.
The study included 718 patients who underwent surgery for papillary thyroid cancer, with a majority of 556 (77.4%) being female. The distribution of molecular alteration patterns was as follows: BRAF-like in 227 (31.6%), RAS-like in 171 (23.8%), NBNR in 59 (8.2%), BRAF/RAS overlap 8 (1.1%) and no detectable mutation in 224 (31.2%) cases. The median tumor size was 15 mm (IQR 10-24). Extrathyroidal extension (ETE) was observed in 6.2% of cases with gross ETE and 5.6% with minimal ETE. Notably, nodules with BRAF-like molecular alterations were more likely to exhibit ETE compared to those with RAS-like or NBNR alterations (P < 0.001). There was no significant correlation between ETE and median tumor size (P > 0.05).
Molecular testing of thyroid nodules provides a more accurate prediction of tumor behavior compared to tumor size alone. These findings suggest that future staging systems could benefit from incorporating molecular alteration patterns into their algorithms.
分子检测是一种成熟的工具，可辅助甲状腺结节的管理，并能根据不同的分子改变模式进行分类：BRAF样、RAS样和非BRAF-非RAS（NBNR）。然而，经典的TNM分类和ATA指南目前依赖肿瘤大小进行风险分层。在本研究中，我们比较了根据分子改变模式与肿瘤大小的肿瘤行为。
对2015年至2022年间接受ThyGenX/ThyGeNEXT或ThyroSeq V3术前分子分析的甲状腺结节进行回顾性多中心跨国研究。分析了临床特征，包括人口统计学、细胞学结果、肿瘤大小、手术病理和分子改变。
该研究纳入了718例行甲状腺乳头状癌手术的患者，其中大多数为556例（77.4%）女性。分子改变模式的分布如下：BRAF样227例（31.6%），RAS样171例（23.8%），NBNR 59例（8.2%），BRAF/RAS重叠8例（1.1%），224例（31.2%）未检测到突变。肿瘤大小中位数为15mm（四分位间距10-24）。6.2%的病例观察到甲状腺外侵犯（ETE），其中肉眼可见ETE的占5.6%，微小ETE的占5.6%。值得注意的是，与具有RAS样或NBNR改变的结节相比，具有BRAF样分子改变的结节更可能表现出ETE（P＜0.001）。ETE与肿瘤大小中位数之间无显著相关性（P＞0.05）。
与单独的肿瘤大小相比，甲状腺结节的分子检测能更准确地预测肿瘤行为。这些发现表明，未来的分期系统可能会从将分子改变模式纳入其算法中受益。
