EYES2019 7th ESE Young Endocrinologists and Scientists (EYES) Meeting Oral Presentations (67 abstracts)
The genetic landscape of indeterminate thyroid nodules
Martyna Borowczyk 1 , Ewelina Szczepanek-Parulska 1 , Szymon Dębicki 1 , Bartłomiej Budny 1 , Frederik A Verburg 2 , Dorota Filipowicz 1 , Elżbieta Wrotkowska 1 , Małgorzata Janicka-Jedyńska 3 , Barbara Więckowska 4 , Lidia Gil 5 , Katarzyna Ziemnicka 1 & Marek Ruchała 1
1Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznan, Poland; 2Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany; 3Department of Clinical Pathology, Poznan University of Medical Sciences, Poznan, Poland; 4Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland; 5Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Poznan, Poland.
Objective: The thyroid fine needle aspiration biopsy (FNAB) may bring inconclusive cytological results of atypia of undetermined significance/follicular lesion of undetermined significance (AUS/FLUS) or follicular neoplasm/suspicious for follicular neoplasm (FN/SFN). The objective of the study was to describe the genetic landscape of indeterminate thyroid nodules to better understand this phenomenon and identify genetic markers potentially differentiating benign and malignant lesions.
Methods: FNAB samples were acquired from 25 (2 men and 23 women) Caucasians patients diagnosed preoperatively with FLUS (16) and SFN (9). Genomic DNA was isolated and the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 was used to perform next-generation sequencing (NGS). The obtained data were analyzed and compared with clinical data including final post-surgical diagnoses.
Results: The overall malignancy rate was 28%. KDR, RET, and TP53 genes mutations were the most frequent in FLUS and SFN samples finally diagnosed as cancers, whereas alterations RET, TP53, FLT3, APC, and PDGFRA predominated in benign tumors. Malignant samples tended to have KDR mutations more often (75% vs. 20%, P=0.095). A total number of mutated genes was significantly higher in patients with benign tumors (17 vs. 11, P=0.0184) and the mean number of 4.9 mutations per patient (range: 1–9) did not differ in both groups.
Conclusions: The results show that the indeterminate thyroid nodules’ genetic background heterogeneity corresponds to their histopathological diversity. The role of KDR as a possible malignancy marker needs to be confirmed. FNAB samples may constitute a reliable source of genetic material for NGS studies giving a better insight in thyroid nodules molecular profile.
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Endocrine Abstracts
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