ECE2018 Poster Presentations: Thyroid Nuclear receptors and signal transduction (1 abstracts)
Are benign adenoma and papillary thyroid carcinoma related? A linkage study from BRAF and NIS gene mutation point of view
B Ramesh 1 , B Rajesh 1 , M Venkateshwar Reddy 1 , D Vighnesh 1 , B Rajkiran Reddy 2 , G Gayathri 1 , B Chakrapani 3 & PRK Bhargav 4
1VMC, Kurnool, India; 2SMART Sunshine Hospital, Hyderabad, India; 3Neuro Hospital, Nizamabad, India; 4Endocare Hospital, vijayawada, India.
Introduction: The adenoma – carcinoma sequence in thyroid nodules is a enigmatic phenomenon. There are conflicting reports on development of papillary cancer from benign adenomas. Genomics is the only definitive modality to resolve this hypothesis. Adenomas and papillary carcinomas tend to have mutations in Sodium Iodide symporter gene (NIS) and highly specific BRAF gene respectively. In this context, we set out study the prevalence of these somatic mutations in surgical tissue samples.
Material and methods: This prospective study was conducted on surgically managed thyroid nodule patients. Institutional ethical committee approval was obtained. Diagnosis was based on biochemical confirmation, imaging, fine needle aspiration cytology and later confirmed by histopathology. All cases underwent total thyroidectomy along with additional neck dissection in cancer cases. We selected 25 benign thyroid adenomas (BTA) and 20 papillary thyroid carcinoma (PTC) cases. Tumour tissue samples were taken from ex-vivo specimen within operation theatre. After appropriate processing of samples, DNA extraction, cDNA preparation, PCR amplification, application of 6 sets of Primers were performed as part of mutational analysis of NIS and BRAF genes.
Results: Heterozygous mutations in NIS were found in 11/25 (44%) of BTA and 5/20 (25%) of PTC cases. A recessive heterozygous mutation in BRAF was found in PTC cases (9/20) only. No BRAF mutations were noted in BTA.
Conclusions: NIS mutations were prevalent in both benign and malignant thyroid nodules giving some evidence for linkage between them. Though not robust, we opine that there is possibility of adenoma- carcinoma sequence in thyroid nodules. BRAF mutations appear to be specific to PTC. We need larger, robust and consistent studies to justify this observation in future.
Keywords: Papillary thyroid cancer, BRAF gene, NIS gene, Thyroidectomy, Goiter
Volume 56
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Endocrine Abstracts
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