ECE2020 Audio ePoster Presentations Thyroid (144 abstracts)
The importance of molecular-genetic examination in a patient with sonographically suspected but cytologically benign thyroid nodule
Milos Laburda 1 , Karel Vondra 2 , Barbora Pekova 3 , Sarka Dvorakova 3 , Vlasta Sykorova 3 , Jitka Moravcova 3 , Eliska Vaclavikova 3 , Miloslav kuklik 3 , Josef Vcelak 3 , Bela Bendlova 3 & Jana Drozenova 4
1 Institute of Endocrinology, Department of Clinical Endocrinology, Prague, Czech Republic; 2Institute of Endocrinology, Department of Functional Diagnostics, Prague, Czech Republic; 3Institute of Endocrinology, Department of Molecular Endocrinology, Prague, Czech Republic; 43rd Faculty of Medicine, Charles University and University Hospital Royal Vinohrady, Department of Pathology, Prague 10, Czech Republic
Introduction: Differential diagnosis of thyroid nodules is one of the most frequently solved problems in the endocrinological practice. It is always necessary to determine their biological nature, which will decide about further therapeutic procedure, especially about early surgery in case of proven malignancy. In addition to sonographic examination and fine needle aspiration biopsy (FNAB), now we can also use the possibilities of molecular-genetic examination.
Case report: We present a case report of a 55-year-old woman sent to our institute to examine the sonographically suspected nodule in the right thyroid lobe. In accordance with conventional procedures, fine needle aspiration biopsy of the nodule was performed. The cytological examination determined the sample as benign (Bethesda Category II). Due to sonographically very suspicious features (microcalcification, TI-RADS category 5), we performed molecular-geneticanalysis for the presence of genetic mutations associated with thyroid oncology. The somatic mutation of V600E in the 15th exon of the BRAF gene was proven. This mutation is associated with papillary thyroid carcinoma (PTC) and with a worse prognosis of the disease. Based on these findings, we indicated the patient to undergo total thyroidectomy. Histological examination confirmed PTC and also the mutation in the BRAF gene was identified in surgical tissue. The patient continues to be observed at our institute and simultaneously at the Department of Nuclear Medicine and Endocrinology in Motol University Hospital, where the first dose of radioiodine has already been given.
Conclusion: The benefit of our workplace lies in a complex diagnostic approach. Although according to the ETA guidelines molecular-genetic testing of FNAB-derived material is recommended only in Bethesda III and above, our case report shows that a well-performed thyroid sonography leading to suspected malignancy should be complemented by a molecular-genetic examination of the nodule despite benign cytological analysis. The BRAF V600E mutation is specific for PTC, therefore its finding in the presented patient led directly to the diagnosis of PTC.
Supported by the Ministry of Health of the Czech republic AZV 16-32 665A and MH CZ – DRO (Institute of Endocrinology – EU, 00023761) grants.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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