ECE2013 Poster Presentations Thyroid cancer (64 abstracts)
The prevalence, the tumorigenic role and the functional implications of rare BRAF alterations in a cohort of Italian patients with thyroid carcinomas
Raffaele Pezzani 1 , Susi Barollo 1 , Andrea Cristiani 2, , Marco Redaelli 4 , Laura Zambonin 1 , Beatrice Rubin 1 , Loris Bertazza 1 , Mariangela Zane 5 , Carla Mucignat-Caretta 4 , Alessandro Bulfone 3 , Gianmaria Pennelli 5 , Maria Rosa Pelizzo 5 , Franco Mantero 1 , Stefano Moro 3 & Caterina Mian 1
1Endocrinology Unit, Department of Medicine, University of Padua, Padua, Italy; 2Biomedicine Sector, Center for Advanced Studies, Research and Development, Sardinia Technology Park Polaris, Pula (CA), Italy; 3Molecular Modeling Section (MMS), Department of Pharmaceutical Sciences, University of Padua, Padua, Italy; 4Department of Molecular Medicine, University of Padua, Padua, Italy; 5Department of Surgery, Oncology and Gastroenterology, University of Padua, Padua, Italy.
Background: Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid gland, accounting for 74–80% of all thyroid cancers. The T1799T>A transversion is an activating mutation of the BRAF oncogene that is common in conventional PTC and specific to it.
Aims: To study the prevalence, tumorigenic role and biomolecular implications of rare BRAF variants in a large cohort of patients.
Study design: A 1641 fine-needle aspiration biopsy samples were collected and subjected to BRAF mutation analysis: 494 were PTC. The rare genetic variants found were also analyzed by western blot to investigate their susceptibility in modulating fundamental signaling pathways, by immunofluorescence and by means of in silico analysis to evaluate their molecular role in large-scale exploration of conformational spaces.
Results: BRAF mutations were found in 271/494 (54.9%) of PTC. They were classic (c.1799T>A) mutation (in 97%) and rare genetic variants (in 3%). A total of nine infrequent alterations were detected: c.1795_1797dupACA (p.T599dup) found in two patients (one with the follicular variant and the other with classic PTC); c.1801A>G (p.K601E) found in three patients (one with poorly differentiated follicular carcinoma and two with the follicular variant of PTC); c.1799_1801delTGA (p.V600_K601>E) found in three patients (one with hobnail, one with tall cell variant and the last not yet operated): and c.1799_1814>A (p.V600_S605>D) in one patient (classic PTC variant).
Conclusions: This study delineated the prevalence, tumorigenic role and functional implications of rare BRAF alterations of thyroid carcinoma.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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