Chen Zixian, Sun Wenyu, Fei Mengjia, Qian Kai, Shi Yuan, Guo Kai, Wang Zhuoying
Department of Head and Neck Surgery, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China.
Department of Ultrasonography, Renji Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai 200001, China.
J Clin Endocrinol Metab. 2025 Jul 15;110(8):e2737-e2743. doi: 10.1210/clinem/dgae803.
This study aimed to describe the ultrasound characteristics of papillary thyroid carcinoma (PTC) harboring RET gene fusion and explore its clinical significance.
A retrospective study was conducted on 209 patients with PTC diagnosed between August 2021 and January 2024. All patients underwent ultrasound examination and were confirmed to be positive for RET fusion or BRAFV600E by pathological results. The differences in clinical characteristics and ultrasonography features between the 2 groups were analyzed.
Among all PTCs (n = 209), we detected 30 RET fusions and 179 BRAFV600E. RET-fusion PTCs showed younger age [38.5 (16.0-69.0) vs 42.9 (20.0-74.0) years, P < .05], larger tumor size [1.09 (0.5-4.0) vs 0.77 (0.1-4.0) cm, P < .005], and more advanced N stage (P < .001) than BRAFV600E PTCs. RET-fusion PTCs were mainly classical and diffuse sclerosing subtypes. In terms of ultrasound performance, RET-fusion PTCs were mainly manifested as heterogeneous echogenicity (43.3%), ill-defined tumor margin (90.0%), irregular shape (83.3%), and intranodular microcalcification (83.3%), characterized by scattered microcalcification around the tumor/within thyroid gland (40.0%). In comparison, BRAFV600E PTCs were mainly characterized by hypoechogenicity (95.5%), round/oval shape (80.4%), and intranodular noncalcification (54.2%). Multivariate logistic regression analysis revealed that scattered microcalcification around the tumor/within the normal gland was an independent risk factor for lateral lymph node metastasis (LLNM) in RET-fusion PTCs (odds ratio 9.79, 95% confidence interval 1.31-72.93, P = .026).
Patients diagnosed with PTC harboring RET fusion presented with distinctive clinical characteristics and sonographic patterns, underscoring the unique diagnostic value of ultrasound examination. It can provide a preoperative noninvasive primary screening method for RET-fusion diagnosis, thus facilitating targeted patients with purposeful molecular sequencing to improve treatment outcomes.
本研究旨在描述携带RET基因融合的甲状腺乳头状癌（PTC）的超声特征，并探讨其临床意义。
对2021年8月至2024年1月期间确诊的209例PTC患者进行回顾性研究。所有患者均接受超声检查，并经病理结果证实RET融合或BRAFV600E呈阳性。分析两组患者的临床特征和超声特征差异。
在所有PTC患者（n = 209）中，我们检测到30例RET融合和179例BRAFV600E。RET融合型PTC患者年龄更小[38.5（16.0 - 69.0）岁vs 42.9（20.0 - 74.0）岁，P <.05]，肿瘤尺寸更大[1.09（0.5 - 4.0）cm vs 0.77（0.1 - 4.0）cm，P <.005]，且N分期比BRAFV600E型PTC更晚(P <$.001)。RET融合型PTC主要为经典型和弥漫硬化型亚型。在超声表现方面，RET融合型PTC主要表现为回声不均匀（43.3%）、肿瘤边界不清（９０.０％) 形状不规则(83.3%)和结节内亚钙化(83.3%) 其特点是肿瘤周围/甲状腺腺体内散在微钙化(40.0%)。相比之下，BRAFV600E型PTC主要特点为低回声(95.5%)、圆形/椭圆形(80.%4)和结节内无钙化(54.2%) 多因素逻辑回归分析显示，肿瘤周围/正常腺体内散微钙化是RET融合型PTC发生侧颈部淋巴结转移(ＬＬＮＭ)的独立危险因素(比值比9.7%, 95%置信区间 1.31 - 72.), ９３, Ｐ = .０２６)
诊断为携带RET融合的PTC患者具有独特的临床特征和声像图表现，突出了超声检查的独特诊断价值。它可以为RET融合诊断术前无创初步筛查 从而有助于有针对性患者进行有针对性基因测序以提高治疗效果。
