ECE2017 Eposter Presentations: Thyroid Thyroid (non-cancer) (260 abstracts)
Five-year follow-up of thyroid cold nodules with somatic oncogene mutations in Hungarian patients
Bálint Tobiás 1, , Bernadett Balla 1, , Petra Soltész 1 , János P Kósa 1, , János Horányi 2 , Balázs Járay 3 , Eszter Székely 3 , Roland Istók 3 , Tamás Székely 3 & Péter Lakatos 1
11st Department of Internal Medicine, Semmelweis University, Budapest, Hungary; 21st Department of Surgery, Semmelweis University, Budapest, Hungary; 32nd Department of Pathology, Semmelweis University, Budapest, Hungary; 4PentaCore Lab Ltd, Budapest, Hungary.
Cold nodules are one of the most common findings on scintiscans and ultrasound examinations of the thyroid gland. About 5-10% of these nodules turn out to be histologically malignant. Our aim was to examine the predictive value of somatogenetic alterations associated with thyroid cancer in FNA samples of thyroid cold nodules being citologically benign at the beginning of the study. These alterations included single nucleotide mutations (BRAF, HRAS, NRAS, KRAS) and genetic translocations (RET/PTC1, RET/PTC3, PAX8ex7/PPARgamma, PAX8ex9/PPARgamma). The SNPs were tested by real-time PCR with fluorescence melting curve analysis and the rearrangements were detected by Taqman probe-based quantitative real-time PCR. We have analyzed 779 consecutive FNA samples and followed the patients up for 5 years. We identified 39 BRAF, 23 NRAS, 9 HRAS, 1 KRAS mutations and 1 RET/PTC3 rearrangement. No PAX8/PPARgamma rearrangements were demonstrated in the nodules. During the five-year follow-up, 57 cases (7.3%) were classified as malignant by histology, from which we indentified genetic alterations in 27 (47.4%). The statistical performance of our genetic panel showed a specificity of 93.6%, sensitivity of 47.4%, a negative predictive value of 95.8% and a positive predictive value of 37.0%. In summary, our test approach may be used for the prediction of malignant transformation of thyroid cold nodules, however, its sensitivity requires improvement.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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