OP3 – Prospective multicenter clinical validity of a thyroid genetic classifier In Vitro Diagnostic test (TGC-IVD) for indeterminate thyroid nodules


    González, Hernán E.1, Martínez, José R.1, Vargas-Salas, Sergio1, Solar, Antonieta2, Cruz, Francisco3, Arias , Tatiana3, Loyola, Soledad3, Dominguez, José Miguel, Horvath , Eleonora5, Tala, Hernán5, Traipe, Eufrosina6, Meneses, Manuel6, Marín, Luis6, Wohllk, Nelson7, Diaz , René E.7, , Jesús Véliz7, Pineda, Pedro8, Arroyo, Patricia9, Lobos, Maite10, Medina, Francisco11 , Lobos, Germán11, Osorio, Miren11, Schatcher, Dina11, Glacinovic, Andrea11, Mena, Natalia12, González, Claudia12, Miranda, Giovanna12, Bruce, Elsa12 , Urra, Soledad1.

    1 Department of Surgical Oncology,  2 Department of Anatomic Pathology, 3 Department of Radiology, 4Department of Endocrinology,  Faculty of Medicine Pontificia Universidad Católica de Chile, Santiago, Chile
    5 Department of Radiology, Clínica Alemana de Santiago, Universidad del Desarrollo, Santiago, Chile
    6 Instituto Oncológico Fundación Arturo López Pérez, Santiago, Chile
    7 Department of Endocrinology, Hospital del Salvador, Universidad de Chile, Santiago, Chile
    8 Sección Endocrinología y Diabetes, Departamento de Medicina, Hospital Clínico Universidad de Chile, Santiago, Chile
    9 Hospital San Juan de Dios, Santiago, Chile
    10 Centro Diagnóstico Plaza Italia, Santiago Chile
    11 Department of Radiology, Clínica Santa María, Santiago, Chile
    12 GeneproDX Chile SpA, Santiago, Chile.

    In most of the world, diagnostic surgery remains as the most frequent approach for treatment of indeterminate thyroid nodules (ITN). Although, several molecular tests are available for central-lab testing in the US, there are no available diagnostic kits for local laboratory testing. To address this issue, we have developed and performed a clinical validity study of a 10-gene thyroid genetic classifier In Vitro Diagnostic test (TGC-IVD) for ITN with a level of complexity such that it may be used in reference laboaratories.

    Methods: We performed a 21-month, prospective, double-blinded, multi-center clinical validation study including 9 institutions, 2648 patients, 2982 fine-needle aspirations of which 565 (18,9%) were indeterminate (Bethesda III & IV). At the time of this analysis, the corresponding surgical pathology and adequate RNA was obtained for 193 samples. The expression of 10 genes was analyzed using a multiplexed q-PCR TGC-IVD and its performance was evaluated.

    Results: Of the 193 ITNs, 51 were malignant (cancer prevalence of 25.4%). The TGC-IVD correctly identified 47 of 51 malignant nodules, with a sensitivity of 92.2% (CI of 87-98%), and specificity of 90.8% (95% CI of 84-96%). The negative predictive values ??for follicular lesion or atypia of undetermined significance (Bethesda III) and follicular neoplasm (Bethesda IV) were 97.6% and 96.7%, respectively, whereas the positive predictive values ??were 77.8% And 78.6%, respectively. The TGC-IVD correctly predicted a case of medullary thyroid cancer as malignant. 

    Conclusions: We report the clinical validation of a new TGC-IVD that accurately predicts the nature of indeterminate thyroid nodules and could be a future solution suitable for local reference laboratory testing, providing an accesible solution for clinicians to identify patients that can avoid diagnostic surgery.


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