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逐步分析具有基因组印迹检测的甲状腺诊断方式。

Stepwise analysis of thyroid diagnostic modalities with genomic imprinting detection.

机构信息

Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China.

Department of Ultrasound, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou, China.

出版信息

Chin Clin Oncol. 2024 Apr;13(2):21. doi: 10.21037/cco-23-89. Epub 2024 Apr 12.

DOI:10.21037/cco-23-89
PMID:38644545
Abstract

BACKGROUND

The current preoperative malignancy risk evaluation for thyroid nodules involves stepwise diagnostic modalities including ultrasonography, thyroid function serology and fine-needle aspiration (FNA) cytopathology, respectively. We aimed to substantiate the stepwise contributions of each diagnostic step and additionally investigate the diagnostic significance of quantitative chromogenic imprinted gene in-situ hybridization (QCIGISH)-an adjunctive molecular test based on epigenetic imprinting alterations.

METHODS

A total of 114 cytopathologically-diagnosed and histopathologically-confirmed thyroid nodules with complete ultrasonographic and serological examination records were evaluated using QCIGISH in the study. Logistic regression models for thyroid malignancy prediction were developed with the stepwise addition of each diagnostic modality and the contribution of each step evaluated in terms of discrimination performance and goodness-of-fit.

RESULTS

From the baseline model using ultrasonography [area under the receiver operating characteristics curve (AUROC): 0.79; 95% confidence interval (CI): 0.71-0.86], significant improvements in thyroid malignancy discrimination were observed with the stepwise addition of thyroid function serology (AUROC: 0.82; 95% CI: 0.74-0.90; P=0.23) and FNA cytopathology (AUROC: 0.88; 95% CI: 0.81-0.94; P=0.02), respectively. The inclusion of QCIGISH as an adjunctive molecular test further advanced the preceding model's diagnostic performance (AUROC: 0.95; 95% CI: 0.91-1.00, P=0.007).

CONCLUSIONS

Our study demonstrated the significant stepwise diagnostic contributions of standard clinical assessments in the malignancy risk stratification of thyroid nodules. However, the addition of molecular imprinting detection further enabled a more accurate and definitive preoperative evaluation especially for morphologically indeterminate thyroid nodules and cases with potentially discordant results among standard modalities.

摘要

背景

目前甲状腺结节的术前恶性肿瘤风险评估涉及逐步的诊断方法,包括超声、甲状腺功能血清学和细针穿刺(FNA)细胞学检查。我们旨在证实每个诊断步骤的逐步贡献,并进一步研究基于表观遗传印迹改变的定量显色印迹基因原位杂交(QCIGISH)-辅助分子检测的诊断意义。

方法

在这项研究中,对 114 例经细胞学诊断且经组织病理学证实的甲状腺结节进行了 QCIGISH 评估,这些结节具有完整的超声和血清学检查记录。使用逐步添加每种诊断方法的方法建立甲状腺恶性肿瘤预测的逻辑回归模型,并根据区分性能和拟合优度评估每个步骤的贡献。

结果

从使用超声的基线模型(AUROC:0.79;95%置信区间[CI]:0.71-0.86)开始,随着甲状腺功能血清学(AUROC:0.82;95%CI:0.74-0.90;P=0.23)和 FNA 细胞学(AUROC:0.88;95%CI:0.81-0.94;P=0.02)的逐步添加,观察到甲状腺恶性肿瘤鉴别能力的显著提高。作为辅助分子检测的 QCIGISH 的纳入进一步提高了前一个模型的诊断性能(AUROC:0.95;95%CI:0.91-1.00,P=0.007)。

结论

我们的研究表明,标准临床评估在甲状腺结节恶性风险分层中的诊断贡献具有显著的阶段性。然而,分子印迹检测的添加进一步实现了更准确和明确的术前评估,特别是对于形态学不确定的甲状腺结节和标准方法中可能存在不一致结果的病例。

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