ECE2019 Poster Presentations Thyroid 3 (74 abstracts)
TP53 and FLT3 may become candidate markers for detecting malignancy in follicular lesions
Martyna Borowczyk 1 , Ewelina Szczepanek-Parulska 1 , Szymon Dębicki 1 , Bartłomiej Budny 1 , Frederik A Verburg 2 , Małgorzata Janicka-Jedyńska 3 , Barbara Więckowska 4 , Lidia Gil 5 , Dorota Filipowicz 1 , Katarzyna Ziemnicka 1 & Marek Ruchała 1
1Department of Endocrinology, Metabolism and Internal Medicine, Poznań University of Medical Sciences, Poznań, Poland; 2Department of Nuclear Medicine, University Hospital Marburg, Marburg, Germany; 3Department of Clinical Pathology, Poznań University of Medical Sciences, Poznań, Poland; 4Department of Computer Science and Statistics, Poznań University of Medical Sciences, Poznań, Poland; 5Department of Hematology and Bone Marrow Transplantation, Poznań University of Medical Sciences, Poznań, Poland.
Introduction: The aim of the present study was to compare follicular thyroid adenoma (FTA) and follicular thyroid carcinoma (FTC) using the wide oncological molecular panel and identify differences in mutational status which may aid in the preoperative differentiation between these two related thyroidal pathologies, as well as in an understanding their pathways of origin.
Material and methods: We analyzed formalin-fixed paraffin-embedded (FFPE) samples acquired from 70 patients diagnosed with follicular lesions: 35 with FTA and 35 with FTC, 8 men and 62 women, Caucasians (median age at diagnosis: 56). Both groups were adjusted for age and sex. Genomic DNA was isolated from FFPE. The Ion AmpliSeq Library Kit v2 was used to amplify DNA and the 50-gene Ion AmpliSeq Cancer Hotspot Panel v2 was used with the IonTorrentTM PGM platform to perform next-generation sequencing. The obtained data from genomic experiments was subjected for analysis using dedicated software and compared with clinical data.
Results: Any possibly pathogenic mutation was found in 14 out of 35 patients diagnosed with FTA (40%) and 24 out of 35 patients diagnosed with FTC (69%) (OR: 3.27; 95% CI: 1.22–8.75; P=0.03). The number of detected mutations was significantly higher in patients with FTC in comparison with those diagnosed with FA (P=0.03). The majority of the mutations occurred with the same frequency in FA and FTC. SMAD4 and STK11 mutations were present only in patients diagnosed with FA. FBXW7, JAK3, KIT, NRAS, PIK3CA, SMARCB1, and TP53 were detected exclusively in FTC patients. However, only TP53 made patients significantly more prone to be diagnosed with FTC (OR: 29.24; 95% CI: 1.63–522.03; P=0.0009). The most common mutation in FA was RET, followed by FLT3 (39% and 27% of all FA) and the most common FTC mutation was FLT3, followed by RET (51% and 31% of all FTC). FLT3-positivity tended to be higher in FTC than in FA (51% vs. 29%; P=0.054).
Conclusions: The results may prove that FTA and FTC may share common genetic background which may be more complex in a case of FTC. TP53 and FLT3 may become candidate markers for detecting malignancy in follicular lesions. Further understanding of the importance of FLT3, HRAS, and RET in FA may be required to determine whether they need more careful follow-up. Identification of new genetic factors participating in FTC pathogenesis may bring new knowledge on carcinogenesis and enable appearance of new targeted drugs.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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