ETA2024 Poster Presentations Basic thyroid cancer research-1 (10 abstracts)
TSHR variants in benign and malignant thyroid tumors
Bela Bendlova 1 , Barbora Bulanova 2 , Karolina Mastnikova 3 , Vlasta Kuklikova 3 , Eliska Vaclavikova 3 , Jitka Carkova 2 , Petr Vlcek 4 , Petr Lastuvka 5 , Rami Katra 6 , Petr Bavor 7 , Daniela Kodetova 8 , Martin Chovanec 9 , Jana Drozenova 10 , Jaromir Astl 11 , Jiri Soukup 12 & Josef Vcelak 13
1Institute of Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Praha 1, Czech Republic; 2Department of Molecular Endocrinology, Institute of Endocrinology, Prague, Czech Republic; 3Institute of Endocrinology, Department of Molecular Endocrinology, Prague, Czech Republic; 42nd Faculty of Medicine, Charles University, Department of Nuclear Medicine and Endocrinology, Department of Nuclear Medicine and Endocrinology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Nuclear Medicine and Endocrinology, Prague 1, Czech Republic; 5Department of Otorhinolaryngology and Head and Neck Surgery, 1st Faculty of Medicine in Charles University and University Hospital Motol, Prague, Czech Republic, Motol University Hospital, Department of Otorhinolaryngology and Head and Neck Surgery, Prague, Czech Republic; 6Department of Etn, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Ear, Nose and Throat, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Department of Ear, Nose and Throat, Prague, Czech Republic; 7Department of Surgery, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Motol University Hospital, Department of Surgery, Prague, Czech Republic; 8Department of Pathology and Molecular Medicine, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Motol University Hospital, Department of Pathology and Molecular Medicine, Prague 5, Czech Republic; 9Department of Otorhinolaryngology and Head and Neck Surgery, 3rd Faculty of Medicine, Charles University in Prague, Royal Vinohrady Teaching Hospital, University Hospital Kralovske Vinohrady, Department of Otorhinolaryngology, Prague, Czech Republic; 10Department of Pathology, 3rd Faculty of Medicine, Charles University in Prague, Royal Vinohrady Teaching Hospital, University Hospital Kralovske Vinohrady, Department of Pathology, Prague, Czech Republic; 11Military University Hospital, Military University Hospital, Department of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic; 12Departments of Pathology, Military University Hospital, Prague, Czech Republic; 13Department of Molecular Endocrinology, Institute of Endocrinology, Institute of Endocrinology, 11694 Prague, Czech Republic, Department of Molecular Endocrinology, Prague, Czech Republic
Background: Variants of the TSHR gene occur in different types of thyroid tumors. The importance of their molecular testing and the clinical impact is unclear. The aim of this study was to detect TSHR variants in a large cohort of malignant, low-risk and benign thyroid tumors and correlate them with clinical and histopathological data.
Methods: The cohort consisted of 885 fresh frozen thyroid tumor samples (455 malignant tumors, 52 low-risk neoplasms and 378 benign tumors) from 148 pediatric (under 18 years) and 736 adult patients. DNA extracted from the samples was analyzed for the presence of TSHR variants (NM_000369.5) in exon 10 using the Nextera XT DNA Library Prep Kit and next-generation sequencing (MiSeq, Illumina).
Results: A total of 14 types of TSHR variants were found in 38 thyroid tumors from 37 patients (32 females, 5 males). The histology of TSHR -positive thyroid tumors was as follows: 30/378 (7.9%) benign tumors, 4/390 (1.0%) papillary thyroid carcinomas (PTCs), 3/52 (5.8%) low-risk neoplasms and 1/20 (5.0%) follicular thyroid carcinomas (FTCs). One-third 13/37 (35.1%) of patients with TSHR -positive thyroid tumor were pediatric patients. In pediatric patients, almost all (11/13) TSHR -positive thyroid tumors were benign, 1/13 was a low-risk neoplasm, and 1/13 was a PTC that was positive for the NCOA4/RET fusion gene and the TSHR variant K340N was found to be germline. In other PTC from an adult patient, the TSHR I541V variant was also found to be of germline origin. In the remaining three TSHR -positive thyroid carcinomas, peripheral blood from patients was unavailable. Overall, the most common variant was the TSHR M453T detected in eight samples with different histology (5× benign tumor, 1× low-risk neoplasm, 1× PTC, 1× FTC). The second most common variants detected in five cases each were D633Y and F631L. Both variants were identified only in benign tumors and interestingly, the D633Y variant was found only in pediatric patients. Other TSHR variants that were repeatedly detected only in benign tumors were: S425I in four cases, D633H in three cases, and T632I, I568T, and D619G each in two cases.
Conclusion: TSHR variants were detected at a higher frequency in thyroid tumors from pediatric (8.8%) than from adult (3.3%) patients. Most TSHR -positive thyroid tumors were benign and some of the variants found were associated only with benign histology.
Supported by AZV NU21-01-00448 and MH CZ RVO 00023761.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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