Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2016) 41 EP604 | DOI: 10.1530/endoabs.41.EP604

ECE2016 Eposter Presentations Endocrine tumours and neoplasia (68 abstracts)

Evaluation of differential genes expression of ARHI, FAM129A, KCNQ1, STT3A, CDH1, TIMP3, TFF3 and PTEN in thyroid tissue lesions and in biopsies obtained intraoperatively

Michał Kusiński 1 , Karolina H Czarnecka 2 , Kamila Soboska 2 , Monika Migdalska-Sęk 2 , Dorota Pastuszak-Lewandoska 2 , Ewa Nawrot 2 , Krzysztof Kuzdak 1 & Ewa Brzeziańska-Lasota 2


1Department of Endocrine, General and Vascular Surgery, Chair of Endocrinology, Medical University of Lodz, Lodz, lodzkie, Poland; 2Department of Molecular Bases of Medicine, I Chair of Internal Medicine, Medical University of Lodz, Lodz, lodzkie, Poland.


Malignant transformation of the thyroid follicular cell in nodular goiter (NG) can lead to development of follicular adenoma (FA) or progression into: papillary thyroid carcinoma (PTC) or thyroid follicular cancer (FTC). Distinguishing follicular cell-derived thyroid tumors (FCDT) from NG on the molecular level can be especially helpful for underdetermined cytology (Bethesda III–IV) or FNAB with ‘follicular neoplasm’.

Aim: Comparison of expression levels of ARHI, FAM129A, KCNQ1, STT3A, CDH1, TIMP3, TFF3 and PTEN genes - as candidate biomarkers in differentiation of FCDT - in intraoperative FNAB and in mass of lesion.

Material: RNA isolated from FNAB of the indicated nodule and thyroid tissue neoplasms (obtained during total tyroidectomy) from 56 patients with preoperative FNAB diagnosis: ‘follicular neoplasm’/PTC. Final diagnoses: FA (n=6), PTC (n=22), FTC (n=5) and NG (n=23).

Methods: RNA isolation, cDNA synthesis, mRNA expression evaluation (RQ), V600E BRAF mutation analysis.

Results: From analysed genes TFF3, FAM129A, KCNQ1, STT3A and CDH1 were expressed on the comparable level in tumor tissue and in biopsies. Expression of KCNQ1 was elevated in NG, when compared to group of cancer lesions. Expression of FAM129A, CDH1 were the highest in PTC, and TFF3 in FTC. Differences in expression levels of TIMP3, ARHI and PTEN were observed between cancer tissue and FNAB, what exclude the possibility of using these genes as differentiating markers for biopsies. ARHI and PTEN expression was significantly elevated in FNAB and TIMP3 was decreased in FNAB, when compared to cancer tissues. BRAF mutations V600E/V600A were observed in six patients, no correlation with gene expression or pathological features.

Conclusions: TFF3, FAM129A, KCNQ1, STT3A and CDH1 gene expression analysis in biopsy flushes may have diagnostic potential due to the expression on comparable levels in thyroid nodule biopsy and thyroid lesions after thyroidectomy. Search for new molecular diagnostic markers is essential especially for the FNAB with ‘follicular neoplasm’.

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