The genetic heterogeneity of indeterminate thyroid nodules assessed preoperatively with next generation sequencing reflects the diversity of the final histopathological diagnoses

• DOI: 10.20452/pamw.14979
• Publication Date: 2019-09-19T07:12:08Z
• Authors: Martyna Borowczyk; Ewelina Szczepane...; Szymon Dębicki; Bartłomiej Budny; Frederik A. Verburg; Dorota Filipowicz; Elżbieta Wrotkowska; Małgorzata Janick...; Barbara Więckowska; Lidia Gil; Katarzyna Ziemnicka; Marek Ruchała
• Keywords: Thyroid Nodules; Atypia; Thyroid neoplasm; V600E

Inconclusive cytologic results of thyroid fine‑needle aspiration biopsy (FNAB) include atypia or follicular lesion undetermined significance (FLUS) and neoplasm suspicious for (SFN).We aimed to assess the genetic background indeterminate nodules identify new pathways potentially involved in development cancer.Genomic DNA was isolated from FNAB samples 25 white patients (2 men; 23 women) diagnosed preoperatively with FLUS (n = 16) SFN 9). Next‑generation sequencing (NGS) performed. The were compared clinical data, including final postsurgical diagnoses.The malignancy rate 28%. KDR, RET, TP53 gene mutations most frequent finally as cancers, whereas alterations TP53, FLT3, APC, PDGFRA predominated benign tumors. KDR tended be more common malignant (75% vs 20%, P 0.1). A total number mutated genes higher tumors (17 11, 0.02), but there no difference between groups mean per patient (4.9 [range, 1-9]).We showed that heterogeneity corresponds their histopathologic diversity. role a possible marker needs confirmed. Glass slides may constitute reliable source material NGS studies, providing better insight into molecular profile nodules.