ECEESPE2025 Poster Presentations Thyroid (141 abstracts)
miRNA expression in the thyroid tumors with HRAS Q61R pathogenic variant
Karolina Mastnikova 1 , Vlasta Kuklikova 1 , Barbora Bulanova 1 , Olivia Cillikova 1 , Katerina Vyhnalova 1 , Marie Rodova 1 , Eliska Vaclavikova 1 , Jitka Carkova 1 , Rami Katra 2 , Petr Vlcek 3 , Daniela Kodetova 4 , Martin Chovanec 5 , Jana Drozenova 6 , Radoslav Matej 6 , Jaromir Astl 7 , Jiri Hlozek 7 , Jiri Soukup 8 , Josef Vcelak 1 & Bela Bendlova 1
1Institute of Endocrinology, Department of Molecular Endocrinology, Prague, Czech Republic; 22nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Ear, Nose, and Throat, Prague, Czech Republic; 32nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Nuclear Medicine and Endocrinology, Prague, Czech Republic; 42nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Pathology and Molecular Medicine, Prague, Czech Republic; 53rd Faculty of Medicine, Charles University in Prague and University Hospital Kralovske Vinohrady, Department of Otorhinolaryngology, Prague, Czech Republic; 63rd Faculty of Medicine, Charles University in Prague and University Hospital Kralovske Vinohrady, Department of Pathology, Prague, Czech Republic; 73rd Faculty of Medicine and Military University Hospital, Department of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic; 83rd Faculty of Medicine and Military University Hospital, Department of Pathology, Prague, Czech Republic
JOINT3189
Objectives: Molecular testing of thyroid tumors is increasingly being used for the diagnosis and prognosis of patients. In some cases, however, the same gene variant may be present in both benign and malignant thyroid tissue. There is 42.1% positive predictive value for our preoperative samples of thyroid nodules with pathogenic variants in HRAS gene, respectively 52.6% with low-risk neoplasms included. Currently, it is not possible to distinguish whether a preoperative fine-needle aspiration biopsy sample with HRAS pathogenic variant is a benign or malignant nodule.
Methods: The study consisted of 12 HRAS Q61R-positive papillary thyroid carcinomas (PTCs), six HRAS Q61R-positive benign nodules and 12 healthy thyroid tissues (with no genetic alteration). The miRNA libraries for NGS sequencing were prepared from RNA containing miRNA extracted from fresh-frozen thyroid tissues using the QIAseq miRNA Library Kit (Qiagen). Bioinformatics used the miRge3.0 tool and the DESeq2 package in R to compare cohorts of HRAS benign vs. malignant tumors.
Results: The focus was on comparing follicle-derived nodules with the detected HRAS Q61R pathogenic variant. The expression of miRNAs in benign and malignant thyroid tumors was compared. A total of 11 miRNAs were found to be significantly increased in expression in HRAS-positive PTCs in comparison to benign thyroid nodules (e.g. hsa-miR-31-5p, hsa-miR-34c-5p, hsa-miR-149-5p), whereas expression of four miRNAs were found to be significantly downregulated in the HRAS-positive PTCs (hsa-miR-371a-5p, hsa-miR-372-3p, hsa-miR-373-3p, hsa-miR-548ap/548j-5p).
Conclusion: In summary, the combination of genetic testing at the DNA level and measurement of epigenetic changes in miRNA expression could be a useful tool for better diagnostics and prognostics. Especially, miRNA expression analysis could be useful in the preoperative diagnosis of nodules in which HRAS variants are found and malignancy is not sufficiently clear. Verification with another method and analysis of a larger sample set will follow. Supported by AZV NU21-01-00448 and MH CZ RVO 00023761..
Volume 110
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Endocrine Abstracts
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