ETA2023 45th Annual Meeting of the European Thyroid Association ETA 2023 Oral Session 12: Emerging Insights into Thyroid Cancer Genetics (5 abstracts)
Different histological variants in multifocal PTC analyzed by NGS show an independent molecular origin
Teresa Ramone 1 , Raffaele Ciampi 2 , Cristina Romei 3 , Roberta Casalini 4 , Jacqueline Almeida 5 , Elisa Minaldi 6 , Clara Ugolini 7 , Francesca Signorini 8 , Fulvio Basolo 9 & Rossella Elisei 10
1Department of Clinical and Experimental Medicina, Endocrinology Unit, University of Pisa; University of Pisa; Department of Clinical and Experimental Medicine, Endocrinology Unit, Pisa, Italy, Pisa, Italy; 2Department of Clinical and Experimental Medicina, Endocrinology Unit, University of Pisa, University of Pisa, Department of Clinical and Experimental Medicine, Endocrinology Unit, Pisa, Italy; 3Endocrine Unit, University of Pisa, Department of Clinical and Experimental Medicine, Pisa, Italy; 4, University of Pisa, Endocrine Unit, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy, Department of Clinical and Experimental Medicine, Pisa, Italy; 5Medical Clinical Department, University of Campinas, São Paulo, Brazil, Department of Clinical and Experimental Medicine, Endocrinology Unit, University of Pisa; University of Pisa; Department of Clinical and Experimental Medicine, Endocrinology Unit, Pisa, Italy; 6University Hospital of Pisa, Endocrine Unit, Department of Clinical and Experimental Medicine, Pisa, Italy; 7University of Pisa, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy, Department of Surgical, Medical, Molecular Pathology and Critical Area, Pisa, Italy; 8Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy, Pisa, Italy; 9University of Pisa, Department of Surgical, Medical, Molecular Pathology and Critical Area, University of Pisa, Pisa, Italy, Department of Surgical, Medical and Molecular Pathology and Critical Care Medicine, Pisa, Italy; 10Oncology Section of the Endocrine Unit, Department of Clin and Exp Medicine, University Pisa, Pisa, Italy
Objective: Currently, data about the molecular profile of multifocal papillary thyroid cancer (PTC) are still controversial. The aim of this study was to fully characterize by NGS the molecular profile of different histological variants in patients affected by multifocal PTCs.
Methods: for this purpose, 12 multifocal PTC patients have been studied based to the following inclusion criteria: 1) a minimum of two tumors foci per patient with at least two different histological variants. In total, we retrospectively analyzed 47 foci with a mean number of foci per patient of 4. In all these cases, DNA and RNA were obtained from tumoral tissue obtained from all variants and studied by NGS-targeted sequencing using 2 custom panels designed to analyze mutations and gene fusions involved in thyroid carcinogenesis. TERT promoter mutations (C228T, C250T) have been investigated as well by droplet digital PCR (ddPCR).
Results: Of the 12 patients analyzed, only 2/12 (16.7%) cases showed concordant molecular profiling between the different lesions while the other 10/12 (83.3%) showed a discordant molecular profile that was specific for the variant analyzed. In these latter cases, 5/10 (50%) cases showed a somatic driver mutation in all lesions analyzed with the BRAF-V600E as the most frequent in the classical variant PTC; on the other side, RAS mutation were mainly found in follicular and solid variants. Other 4/10 showed both positive and negative lesions while in 1/10 showed the AGK-BRAF fusion in only one of the lesions studied while the others resulted to be negative. In one of the concordant cases showing six lesions harboring a BRAF-V600E mutation, a TERT C228T mutation was detected in only 1 tall-cell variant lesion: interestingly the only lymph-node metastasis studied in this patient harbored the same TERT mutation in addition to BRAF.
Conclusions: From the data obtained, we mostly observed a different molecular driver associated to different histological variants in the multifocal tumor of the same patient. The independent molecular origin of these lesions has an important clinical impact and suggests that a more thorough analysis should be dedicated to multifocal PTC cases especially in decision of the right target therapy.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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