ECE2013 Poster Presentations Thyroid cancer (64 abstracts)
Detecting somatic oncogene mutations in FNA samples of cold nodules in Hungary
Bálint Tobiás 1 , Bernadett Balla 1 , János P Kósa 1 , János Horányi 2 , István Takács 1 , Zsolt Nagy 1 , Péter Horváth 1 , 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.
Cold nodules are one of the most common findings on scintigraphic examinations of the thyroid gland. About 5–10% of these nodules turn out to be histologically malignant. Our aim was to examine some somatogenetic alterations associated with thyroid cancer in FNA samples of the thyroid. 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 250 consecutive FNA samples. In the examined samples, we found different genetic alterations (four BRAF, one NRAS, seven HRAS mutations and one RET/PTC3 rearrangement) in 13 of these cases. By cytology and histology, 19 cases were classified as malignant, from which we identified genetic alterations only in 5 (26.32%). In eight cases out of the 13 genetic alterations, no sign of cytological malignancy could be seen at the time of the study. In the 11 samples from 19 with papillary cancer, four BRAF (36.36%) and one RET/PTC3T (9.1%) mutations were detected. The rest of malignancies from 19 (follicular lesions and one medullary cancer) showed no genetic alterations. No PAX8/PPARgamma rearrangements were demonstrated in the 250 samples. These data are not in complete accordance with published information. This fact might be due to several factors including the differences in iodine supply in different geographical areas.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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