ETA2023 Poster Presentations Thyroid Cancer Diagnosis 2 (9 abstracts)
Monocentric validation of the ’thyroid risk score’ (TRS) in a large series of indeterminate thyroid nodules
Marina Muzza 1 , Carla Colombo 2 , Guia Vannucchi 3 , Massimiliano Succi 3 , Sonia Palazzo 4 , Francesco Frattini 5 , Davide Gentilini 6 , Giacomo Gazzano 4 , Luca Persani 7 & Laura Fugazzola 8
1Irccs Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases, Italy; 2Irccs Istituto Auxologico Italiano, University of Milan, Department of Endocrine and Metabolic Diseases and Department of Pathophysiology and Transplantation, Italy; 3Irccs Istituto Auxologico Italiano, Department of Endocrine and Metabolic Diseases, Italy; 4Irccs Istituto Auxologico Italiano, Pathology Unit, Italy; 5Irccs Istituto Auxologico Italiano, Division of Surgery, Italy; 6Irccs Istituto Auxologico Italiano, University of Pavia, Bioinformatics and Statistical Genomics Unit and Department of Brain and Behavioral Sciences, Italy; 7Irccs Istituto Auxologico Italiano, University of Milan, Department of Endocrine and Metabolic Diseases and Department of Medical Biotechnology and Translational Medicine, Italy; 8Rccs Istituto Auxologico Italiano, University of Milan, Department of Endocrine and Metabolic Diseases and Department of Pathophysiology and Transplantation, Italy
The diagnosis of indeterminate thyroid nodules is a challenge in cytopathology practice. To increase the diagnostic accuracy in these cases, we previously set up a ’thyroid risk score’ (TRS), derived from the sum of the scores assigned to: cytology + EU-TIRADS classification + nodule size + molecular profile. In the present study we prospectively validated the reliability of the TRS in the clinical practice. From 2018 to 2022 we evaluated 354 indeterminate nodules (210 Bethesda class III and 144 class IV) before surgery. Genetic analysis was performed by a custom NGS target panel able to analyze most of the mutations involved in thyroid cancers in 11 genes on DNA and 10 recurrent gene fusions on cDNA. Genetic alterations were detected in 66/354 nodules (19%). Forty-three mutated (65%) and 48 non-mutated nodules (17%) were submitted to surgery. Furthermore, 23 cases with a low suspicious TRS (<6) underwent thermal ablation. The remaining cases are waiting for surgery (TRS≥6 or compressive goiter), or are under ultrasonographic follow-up (TRS<6 or refusing surgery). The risk of malignancy (ROM) associated to different genetic variants was: BRAF and RET/PTC3 100%, TERT 60%, RAS 0-50%, EIF1AX and PAX8/PPARG 0%. The ROM in operated lesions increased paralleling to the calculated TRS: 4<TRS≤6 (low suspicion), 6<TRS≤ 8 (intermediate suspicion), and TRS>8 (high suspicion) resulted associated to a ROM of 14, 43 and 100%, respectively. ROC curves confirmed the previous identified score >6.5 as the best threshold to differentiate between malignant and benign nodules (P < 0.001), with a sensitivity of 76%, specificity of 78%, positive and negative predictive values of 70% and 82%, respectively and accuracy of 77%. This threshold showed a better performance in the differential diagnosis of nodules than either the various parameters included in the TRS. In conclusion, the TRS represents a useful approach to identify malignancy in indeterminate thyroid lesions, reducing unnecessary surgeries.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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