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Stepwise analysis of thyroid diagnostic modalities with genomic imprinting detection

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机构: [1]Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China [2]Department of Ultrasound, The Affiliated Taizhou People’s Hospital of Nanjing Medical University, Taizhou, China [3]Department of Pathology, Jiangyuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine, Wuxi, China [4]Department of Medical Ultrasound, Shanghai Tenth People’s Hospital, Ultrasound Research and Education Institute, Tongji University Cancer Center, Shanghai Engineering Research Center of Ultrasound Diagnosis and Treatment, School of Medicine, Tongji University, Shanghai, China [5]The Thyroid Research Center of Shanghai, Shanghai Tenth People’s Hospital, School of Medicine, Tongji University, Shanghai, China [6]Department of Ultrasound, Jiangyuan Hospital Affiliated to Jiangsu Institute of Nuclear Medicine, Wuxi, China [7]Faculty of Business and Economics, The University of Hong Kong, Hong Kong, China [8]Department of Thyroid and Breast Surgery, The Second Affiliated Hospital of Chengdu Medical College, Nuclear Industry 416 Hospital, Chengdu, China [9]Department of Endocrinology, The Affiliated Taizhou People’s Hospital of Nanjing Medical University, Taizhou, China [10]Department of Endocrinology, Affiliated Zhongda Hospital of Southeast University, Nanjing, China [11]Department of Endocrinology, The Fifth Hospital Affiliated to Nantong University, Taizhou, China
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关键词: Indeterminate thyroid nodule molecular test epigenetics genomic imprinting quantitative chromogenic imprinted gene in-situ hybridization (QCIGISH

摘要:
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.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.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).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.

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第一作者机构: [1]Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China
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通讯机构: [1]Department of Medical Ultrasound, West China Hospital, Sichuan University, Chengdu, China [8]Department of Thyroid and Breast Surgery, The Second Affiliated Hospital of Chengdu Medical College, Nuclear Industry 416 Hospital, Chengdu, China [9]Department of Endocrinology, The Affiliated Taizhou People’s Hospital of Nanjing Medical University, Taizhou, China [10]Department of Endocrinology, Affiliated Zhongda Hospital of Southeast University, Nanjing, China [11]Department of Endocrinology, The Fifth Hospital Affiliated to Nantong University, Taizhou, China [*1]Department of Thyroid and Breast Surgery, The Second Affiliated Hospital of Chengdu Medical College, Nuclear Industry 416 Hospital, No. 4 Er Huan Lu Bei Si Duan, Chenghua District, Chengdu 610066, China [*2]Department of Endocrinology, The Affiliated Taizhou People’s Hospital of Nanjing Medical University, 366 Taihu Road, Taizhou Medical New and Hi-tech Industrial Development Zone, Taizhou 225310, China [*3]Department of Endocrinology, Affiliated Zhongda Hospital of Southeast University, 87 Dingjiaqiao, Nanjing 210009, China [*4]Department of Endocrinology, The Fifth Hospital Affiliated to Nantong University, 366 Taihu Road, Taizhou Medical New and Hi-tech Industrial Development Zone, Taizhou 225310, China [*5]Department of Medical Ultrasound, West China Hospital, Sichuan University, No. 37 Guoxue Alley, Wuhou District, Chengdu 610041, China
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