Targeted NGS Sequencing in Nodular Goiter and Papillary Thyroid Carcinoma Reveals Striking Similarities - A Comparison in a Single Center

Vidinov K, Dodova R, Petkova V and Kaneva R

Medical University of Sofia, Bulgaria

^*Correspondance to: Kalin Vidinov 

 PDF  Full Text Research Article | Open Access

Abstract:

Thyroid nodules affect more than 5% of the population. However, even when using fine needle biopsy, not all of the lesions can be classified as benign or malignant. The aim of the present study was to investigate the main somatic genomic alterations in patients with benign Nodular Goiter (NG) and Papillary Carcinoma (PTC) to compare the molecular profiles and determine the correlation with the main clinical characteristics of these patients. Materials and Methods: The study included 27 patients with nodular euthyroid goiters and 27 patients with papillary thyroid carcinoma treated at the Endocrine Surgery Clinic of the USBALE "Acad. Iv. Penchev". Tissue samples were obtained intraoperatively, and DNA was isolated from all tissues. Genetic analysis was performed by Next-Generation Sequencing (NGS) of all the samples via the Ion PGM™ tool. Results: Among the 27 patients with PTC, 77 somatic mutations were found in 36 genes. The gene with the most pathogenic mutations in this group was BRAF (37%), followed by TP53 and PTEN. In the group of 27 patients with NG, we found 49 variants in 25 genes. The genes most frequently affected by pathogenic mutations in this cohort were NRAS (11.1%) and BRAF. Conclusion: Current targeted NGS sequencing of PTC samples showed the role of mutations in key genes, such as TP53, BRAF, KIT, ERBB4, and APC. Our study revealed specific hot spot somatic mutations in cancer genes, such as TP53, BRAF, NRAS, APC, PTEN, STK11 and ABL1, in patients with NG. A somewhat unexpected finding that requires additional in-depth studies is the presence of TP53 mutations in NG samples. Spot mutation testing revealed pathogenic mutations in both benign thyroid nodules and PTCs. However, more comprehensive NGS will be needed to better understand the role of specific driver mutations and to better distinguish between NG and PTC.

Keywords:

Differentiated thyroid carcinoma; Nodular goiter; Somatic mutations; Next- Generation Sequencing (NGS)

Cite the Article:

Vidinov K, Dodova R, Petkova V, Kaneva R. Targeted NGS Sequencing in Nodular Goiter and Papillary Thyroid Carcinoma Reveals Striking Similarities - A Comparison in a Single Center. World J Surg Surgical Res. 2024; 7: 1558..