Abstract
Nowadays, the complementary diagnostics based on the suspicious thyroid lesion specific mutational state analysis is indispensable in the clinical practice. We aimed to test and validate our novel 568-mutational hotspot panel (23 cancer-related genes) on papillary thyroid cancers (PTCs) and their tumor-free pairs to find the most powerful mutation pattern related to PTC. The sequencing method was carried on with Ion Torrent PGM on 67 thyroid tissue samples. The most commonly detected mutation was the BRAF c.1799 T > A in all non-classical PTC cases. We utilized a multivariate statistical method (CVA) to determine a discrimination score based on mutational data array and to assess malignancy risk. Based on variants, the BRAF gene has by far the highest indicative power, followed by TSHR and APC. We highlighted novel aspects of the mutational profile and genetic markers of PTC. CVA has correctly assigned most of the samples based on the mutation frequencies and different variables of the selected genes, with high analytical probabilities. The final goal is to set up a new comprehensive rule-in and rule-out test to support the clinical decision making mainly in inconclusive fine-needle aspiration biopsy cases.
Highlights
Thyroid cancer found in nodules of the gland is the most common endocrine malignancy and its incidence is continuously growing worldwide during the recent decades [1]
T > A (V600E) is considered the most prevalent genetic alteration in papillary thyroid cancers (PTCs), and it has been associated with more aggressive tumor behavior, such as extrathyroidal extension, lymph node involvement, resistance to radioactive iodine and tumor recurrence
The papillary thyroid cancer samples were classified into seven histological subtypes
Summary
Thyroid cancer found in nodules of the gland is the most common endocrine malignancy (approximately 2.0–3.0% of all new cancers diagnosed each year in the USA) and its incidence is continuously growing worldwide during the recent decades [1]. T > A (V600E) is considered the most prevalent genetic alteration in PTC, and it has been associated with more aggressive tumor behavior, such as extrathyroidal extension, lymph node involvement, resistance to radioactive iodine and tumor recurrence. Beside these common oncogenic mutations, rearrangements of PAX8/PPARG and RET/PTC genes are notable in PTC variants [3]. Newly identified genomic alterations have been implicated in the pathogenesis of differentiated thyroid cancers These are involved e.g. in AKT regulation (PIK3CA) and tumor suppression (PTEN). This approach might have potential usage in the complementary diagnostics of suspicious thyroid lesions
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