ECE2024 Poster Presentations Thyroid (58 abstracts)
PTEN variants in thyroid tumors of czech patients
Karolina Mastnikova 1 , Barbora Bulanova 1 , Vlasta Kuklikova 1 , Eliska Vaclavikova 1 , Jitka Carkova 1 , Karolina Hrckulakova 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 and Hospital Kralovske Vinohrady, Department of Otorhinolaryngology, Prague, Czech Republic; 63rd Faculty of Medicine, Charles University and Hospital Kralovske Vinohrady, Department of Pathology, Prague, Czech Republic; 73rd Faculty of Medicine, Charles University and Military University Hospital, Departments of Otorhinolaryngology and Maxillofacial Surgery, Prague, Czech Republic; 83rd Faculty of Medicine, Charles University and Military University Hospital, Department of Pathology, Prague, Czech Republic
Objectives: Phosphatase and tension homolog (PTEN) is a part of signal pathways which are essential for cell proliferation, cell cycle progression, and apoptosis. Variants in the PTEN gene occur in different types of thyroid tumors with unclear diagnostic and prognostic impact. Most variants are somatic, but they can also be germline, which are associated with PTEN hamartoma tumor syndrome (PHTS). PHTS includes Cowden syndrome, which is characterized by hamartomas, and an increased risk of developing benign and malignant thyroid and other tumors. The aim of the study was to detect variants in the PTEN gene in a large cohort of patients with malignant as well as benign thyroid tumors.
Methods: The study consisted of 665 fresh frozen thyroid tumor samples from patients aged 3-91 years. Extracted DNA was used for next-generation sequencing of the PTEN gene (NM000314.8, exons 5-8). Variants in the PTEN gene were visualized in Integrative Genomics Viewer (Broad Institute) and evaluated by the VarSome platform (Saphetor SA). MLPA fragmentation analysis was performed to determine the presence of large-scale deletion or duplication in PTEN-positive samples. Data were evaluated by Coffalyser (MRC Holland).
Results: Pathogenic or likely pathogenic variants in the PTEN gene were detected in 11/411 (2.68 %) carcinomas (seven papillary thyroid carcinomas (PTCs), two anaplastic thyroid carcinomas, one follicular thyroid carcinoma, one oncocytic carcinoma), in 5/56 (8.93 %) low-risk neoplasms, and in 5/198 (2.53 %) benign nodules. The variants in the PTEN gene coexisted in three cases with variants in the RAS genes, in four cases with variants in the TP53 and once with the BRAF V600E. MLPA revealed structural abnormalities in 5 PTEN-positive samples (1 PTC, 3 low-risk neoplasms, 1 benign nodule). Two patients with PTC had germline variant in the PTEN gene and had other symptoms of Cowden syndrome. Most patients with PTEN- positive carcinoma received one or two doses of radioiodine with different responses to treatment, only one patient with 90mm PTC died after 2× 7.4 GBq of radioiodine treatment with final stimulated thyroglobulin 24, 345 μg/L. In this PTC, PTEN c.801+1G>A and TP53 R306* were identified.
Conclusion: In summary, PTEN variants were detected in 21/665 (3.16 %) thyroid tissues, higher appearance was in low-risk neoplasms (8.93 %). Due to the frequent occurrence of structural abnormalities in the PTEN gene, screening for copy number variants should be performed in PTEN-positive samples. Supported by AZV NU21-01-00448 and MH CR RVO 00023761.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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