ECEESPE2025 Poster Presentations Thyroid (141 abstracts)
Preoperative detection of pathogenic variants in children and adolescents
Olivia Cillikova 1 , Vlasta Kuklikova 1 , Jitka Carkova 1 , Katerina Vyhnalova 1 , Eliska Vaclavikova 1 , Barbora Bulanova 1 , Karolina Mastnikova 1 , Zdenek Novak 2 , Jan Jiskra 3 , Josef Vcelak 1 & Bela Bendlova 1
1Institute of Endocrinology, Department of Molecular Endocrinology, Prague, Czech Republic; 2Institute of Endocrinology, Department of Clinical Endocrinology, Prague, Czech Republic; 3General University Hospital in Prague and First Faculty of Medicine, Third Department of Internal Medicine – Department of Endocrinology and Metabolism, Prague, Czech Republic
JOINT3464
Introduction: In recent years, the incidence of thyroid tumors in children and adolescents has been increasing. Compared to adult patients, these tumors exhibit a more aggressive course, higher invasiveness, and a greater tendency to metastases. Molecular genetic analysis of fine-needle aspiration biopsy (FNAB) is an effective tool for the more precise diagnosis of thyroid nodules. The aim of this study was to detect pathogenic variants in a cohort of children and adolescents.
Materials and Methods: A total of 145 FNAB samples from patients aged 6–20 years were analyzed. Initially, the V600E variant in the BRAF gene was tested using real-time PCR. Subsequently, additional gene analyses were performed using massively parallel sequencing, fusion gene analysis by real-time PCR, or capillary sequencing.
Results: Pathogenic variants were detected in 35 patients: 9 in the BRAF gene, 7 in RAS genes (1 HRAS, 1 KRAS, and 5 NRAS), 11 in fusion genes (1 TPM3/NTRK1, 3 ETV6/NTRK3, 3 RET/PTC3, 3 RET/PTC1, 1 EML4/ALK), 1 in the TSHR gene, and 7 in the DICER1 gene. Postoperative histological examination data were available for 25% of patients (36/145).
Conclusion: Preoperative molecular genetic analysis is important not only in adults but also in pediatric patients. While BRAF V600E mutations and fusion genes are associated with an almost 100% risk of malignancy, recommending total thyroidectomy, RAS gene mutations carry a lower malignancy risk and are more often associated with lobectomy recommendations. Germline mutations in the DICER1 gene are linked to DICER1 syndrome, which predisposes individuals to various tumor types from early childhood. Supported by AZV NU21-01-00448 and Ministry of Health of the Czech Republic RVO 00023761. .
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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