Matos, M.L.; Pinto, M.; Alves, M.; Canberk, S.; Gonçalves, A.; Bugalho, M.J.; Papoila, A.L.; Soares, P. Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas. Diagnostics2024, 14, 278.
Matos, M.L.; Pinto, M.; Alves, M.; Canberk, S.; Gonçalves, A.; Bugalho, M.J.; Papoila, A.L.; Soares, P. Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas. Diagnostics 2024, 14, 278.
Matos, M.L.; Pinto, M.; Alves, M.; Canberk, S.; Gonçalves, A.; Bugalho, M.J.; Papoila, A.L.; Soares, P. Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas. Diagnostics2024, 14, 278.
Matos, M.L.; Pinto, M.; Alves, M.; Canberk, S.; Gonçalves, A.; Bugalho, M.J.; Papoila, A.L.; Soares, P. Comparative Cyto-Histological Genetic Profile in a Series of Differentiated Thyroid Carcinomas. Diagnostics 2024, 14, 278.
Abstract
Introduction – Molecular tests can contribute to improve the preoperative diagnosis of thyroid nodules. Tests available are expensive and not adapted to different population. Aim – This study aimed to compare the cyto-histological genetic profile, and to evaluate the reliability of molecular tests on Ultrasound-guided Fine Needle Aspiration Cytology (US-FNAC) in accurately diagnosing differentiated thyroid carcinomas (DTCs) and predicting biologic behavior of papillary thyroid carcinomas (PTCs). Material and methods – The series included 259 patients with paired cyto-histological samples totalizing 518 samples. The genetic alterations were analyzed by PCR/Sanger sequencing. The association with clinicopathologic features was evaluated in PTCs. Results/Discussion – From the 259 patients included, histologies were 50 (19.3%) benign controls and 209 (80.7%) DTCs cases, from which 182 were PTCs; cytologies were 5.8% non-diagnostic, 18.2% benign, 39% indeterminate and 37.1% malignant. In histology, indeterminate nodules (n=101) were 22.8% benign and 77.2% malignant. Mutation frequencies in cytology and histology specimens were, respectively, TERTp: 3.7% vs. 7.9%; BRAF: 19.5% vs. 25.1%; RAS: 11% vs. 17.5%. The overall cyto-histological agreement of the genetic mutations was 94.9%, Cohen’s k=0.67, and in indeterminate nodules 95.7%, k=0.64. The identified mutations exhibited a discriminative ability in diagnosing DTC with a specificity of 100% for TERTp and BRAF, and of 94% for RAS, albeit with low sensitivity. TERTp and BRAF mutations were associated with aggressive clinicopathological features and tumor progression in PTCs (p<0.001). The obtained good cyto-histological agreement suggests that molecular analysis in US-FNAC may anticipate the genetic profile and the behavior of thyroid tumors, confirming malignancy and contributing to refer patients towards surgery.
Medicine and Pharmacology, Endocrinology and Metabolism
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