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Endocrine Abstracts (2024) 101 PS3-24-10 | DOI: 10.1530/endoabs.101.PS3-24-10

ETA2024 Poster Presentations Translational thyroid cancer research-2 (10 abstracts)

Association between single nucleotide polymorphisms and disease aggressiveness in patients with papillary thyroid cancer. do we have a new diagnostic tool?

Magdalena Wyciślik 1 , Dorota Kula 2 , Małgorzata Kowalska 3 , Renata Cyplińska 3 , Michał Kalemba 4 & Daria Handkiewicz Junak 5


1Maria Sklodowska-Curie Institute − Oncology Center, Gliwice Branch, Gliwice, Poland, Department of Nuclear Medicine and Endocrine Oncology, Gliwice, Poland; 2Maria Sklodowska-Curie Institute − Oncology Center, Gliwice Branch, Gliwice, Poland, Department of Clinical and Molecular Genetics,; 3Maria Sklodowska-Curie Institute − Oncology Center, Gliwice Branch, Gliwice, Poland, Department of Clinical and Molecular Genetics; 4Dr Stanislaw Sakiel Centre for Burns Treatment, Siemianowice Śląskie, Poland; 5Maria Sklodowska-Curie National Research Institute of Oncology, Gliwice Branch, Department of Nuclear Medicine and Endocrine Oncology, Departament of Nuclear Medicine and Endocrine Oncology, Gliwice, Poland


Papillary thyroid cancer (PTC) has one of the highest hereditary component among malignances, which was reported in numerous epidemiological studies. The association between genetic variants (SNP- single nucleotide polymorphisms) and PTC predisposition was revealed. Still, little is known about their contribution in disease stage and an outcome.

Purpose: The association of rs966423 (DIRC3), rs116909374 (MBIP), rs2439302 (NRG1) with unfavorable histopathological and clinical features was investigated in Polish population.

Material and Methods: The genotype of three variants were determined in 1582 patients with PTC (allelic discrimination assay). Next, association between each genotype and an age, TNM staging, tumor diameter, multifocality status, extrathyroidal expansion, disease recurrence was analyzed (Chi2 test).

Results: The variant rs966423 showed an association with multifocality status (P=0.0043, after Bonferroni correction for multiple comparisons, the P=0.047). An association between rs116909374 and lymph node metastasis was observed (P=0.0018, after Bonferroni correction for multiple comparisons, P=0.02). The association of other clinical features with analyzed variants was not observed (P> 0.05).

Conclusion: Our results showed that two SNPs: rs966423 and rs116909374 were associated with some features of more aggressive course of the disease However, it requires further investigation to evaluate the usefulness of their prognostic value.

Volume 101

46th Annual Meeting of the European Thyroid Association (ETA) 2024

European Thyroid Association 

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