Small Multi-Gene DNA Panel Can Aid in Reducing the Surgical Resection Rate and Predicting the Malignancy Risk of Thyroid Nodules.

IF 3.9 3区 医学 Q2 ENDOCRINOLOGY & METABOLISM Endocrinology and Metabolism Pub Date : 2024-10-01 Epub Date: 2024-10-14 DOI:10.3803/EnM.2024.2034
Moon Young Oh, Hye-Mi Choi, Jinsun Jang, Heejun Son, Seung Shin Park, Minchul Song, Yoo Hyung Kim, Sun Wook Cho, Young Jun Chai, Woosung Chung, Young Joo Park
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Abstract

Backgruound: We explored the utility of a small multi-gene DNA panel for assessing molecular profiles of thyroid nodules and influencing clinical decisions by comparing outcomes between tested and untested nodules.

Methods: Between April 2022 and May 2023, we prospectively performed fine-needle aspiration (FNA) with gene testing via DNA panel of 11 genes (BRAF, RAS [NRAS, HRAS, KRAS], EZH1, DICER1, EIF1AX, PTEN, TP53, PIK3CA, TERT promoter) in 278 consecutive nodules (panel group). Propensity score-matching (1:1) was performed with 475 nodules that consecutively underwent FNA without gene testing between January 2021 and December 2021 (control group).

Results: In the panel group, positive call rate for mutations was 41.7% (BRAF 16.2%, RAS 12.6%, others 11.5%, double mutation 1.4%) for all nodules, and 40.0% (BRAF 4.3%, RAS 19.1%, others 15.7%, double mutation 0.9%) for indeterminate nodules. Benign call rate was 69.8% for all nodules, and 75.7% for indeterminate nodules. In four nodules, additional TP53 (in addition to BRAF or EZH1) or PIK3CA (in addition to BRAF or TERT) mutations were co-detected. Sensitivity, specificity, positive predictive value, and negative predictive value were 80.0%, 53.3%, 88.1%, 38.1% for all nodules, and 78.6%, 45.5%, 64.7%, 62.5% for indeterminate nodules, respectively. Panel group exhibited lower surgical resection rates than the control group for all nodules (27.0% vs. 52.5%, P<0.001), and indeterminate nodules (23.5% vs. 68.2%, P<0.001). Malignancy risk was significantly different between the panel and control groups (81.5% vs. 63.9%, P=0.008) for all nodules.

Conclusion: Our panel aids in managing thyroid nodules by providing information on malignancy risk based on mutations, potentially reducing unnecessary surgery in benign nodules or patients with less aggressive malignancies.

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小型多基因 DNA 检测组有助于降低手术切除率和预测甲状腺结节的恶性风险
背景:我们探讨了小型多基因DNA面板在评估甲状腺结节分子特征方面的效用,并通过比较已检测和未检测结节的结果来影响临床决策:2022年4月至2023年5月期间,我们对278个连续结节进行了前瞻性细针穿刺(FNA),并通过11个基因(BRAF、RAS [NRAS、HRAS、KRAS]、EZH1、DICER1、EIF1AX、PTEN、TP53、PIK3CA、TERT启动子)的DNA面板进行了基因检测(面板组)。对2021年1月至2021年12月期间连续接受FNA而未进行基因检测的475个结节(对照组)进行倾向得分匹配(1:1):小组组中,所有结节的基因突变阳性调用率为41.7%(BRAF 16.2%,RAS 12.6%,其他 11.5%,双突变 1.4%),不确定结节的基因突变阳性调用率为40.0%(BRAF 4.3%,RAS 19.1%,其他 15.7%,双突变 0.9%)。所有结节的良性诊断率为 69.8%,不确定结节的良性诊断率为 75.7%。在四个结节中,同时检测到了额外的 TP53(除 BRAF 或 EZH1 外)或 PIK3CA(除 BRAF 或 TERT 外)突变。所有结节的敏感性、特异性、阳性预测值和阴性预测值分别为 80.0%、53.3%、88.1% 和 38.1%,不确定结节的敏感性、特异性、阳性预测值和阴性预测值分别为 78.6%、45.5%、64.7% 和 62.5%。就所有结节而言,专家小组组的手术切除率低于对照组(27.0% 对 52.5%):我们的研究小组通过提供基于突变的恶性肿瘤风险信息来帮助管理甲状腺结节,可能会减少良性结节或侵袭性较低的恶性肿瘤患者不必要的手术。
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来源期刊
Endocrinology and Metabolism
Endocrinology and Metabolism Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
6.60
自引率
5.90%
发文量
145
审稿时长
24 weeks
期刊介绍: The aim of this journal is to set high standards of medical care by providing a forum for discussion for basic, clinical, and translational researchers and clinicians on new findings in the fields of endocrinology and metabolism. Endocrinology and Metabolism reports new findings and developments in all aspects of endocrinology and metabolism. The topics covered by this journal include bone and mineral metabolism, cytokines, developmental endocrinology, diagnostic endocrinology, endocrine research, dyslipidemia, endocrine regulation, genetic endocrinology, growth factors, hormone receptors, hormone action and regulation, management of endocrine diseases, clinical trials, epidemiology, molecular endocrinology, neuroendocrinology, neuropeptides, neurotransmitters, obesity, pediatric endocrinology, reproductive endocrinology, signal transduction, the anatomy and physiology of endocrine organs (i.e., the pituitary, thyroid, parathyroid, and adrenal glands, and the gonads), and endocrine diseases (diabetes, nutrition, osteoporosis, etc.).
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