ECE2015 Guided Posters Thyroid–genetics (8 abstracts)
Telomerase reverse transcriptase promoter mutation analysis on thyroid core needle biopsy
Marcella Callea 1 , Anna Crescenzi 1 , Pierpaolo Trimboli 2 , Davide Cicciarella Modica 2 , Chiara Taffon 1 , Leo Guidobaldi 2 , Silvia Taccogna 3 , Alberto Rainer 1 , Marcella Trombetta 1 , Enrico Papini 3 & Giovanni Zelano 4
1Campus Bio-Medico University Hospital, Rome, Italy; 2Israelitico Hospital, Rome, Italy; 3Regina Apostolorum Hospital, Rome, Italy; 4Sacro Cuore Catholic University Hospital, Rome, Italy.
Introduction: Among molecular markers proposed to improve diagnosis of thyroid nodules, mutations in telomerase reverse transcriptase (TERT) promoter have been correlated to malignant tumors with highest recurrence and decreased patient’s survival. This suggests an important role of TERT mutational analysis in the clinical diagnosis and management of thyroid cancer patients. In this study, we investigate the potential use of core needle biopsy (CNB) for the preoperative assessment of TERT mutational status and we correlate TERT status with BRAF mutation, definitive histology and post-operative TNM staging of the neoplasia.
Methods: The series included 50 thyroid nodules, retrospectively selected among 187 patients who underwent CNB due to an inconclusive fine-needle aspirate (FNA) report, during last 2 years at two different institutions in Rome. Selected cases consisted of 30 papillary thyroid carcinomas (PTC), one follicular carcinoma (FTC), nine follicular adenomas, and ten nodular hyperplasias. Core samples were processed for morphological and molecular analysis. TERT mutational analysis was performed by Sanger sequencing and BRAF gene was analysed by pyrosequencing.
Results: C228T TERT promoter mutation was found in 3/30 (10%) of PTC with prevalence of 17.6% among locally advanced PTCs. The only case of FTC, adenomas and hyperplastic nodules did not show the mutation. Mutated cases showed locally invasive PTC with multiple lymph-node metastases and, in one patient, with lung metastasis. All TERT mutated cases showed concomitant V600 BRAF mutation.
Conclusions: The present study demonstrates the feasibility of TERT promoter mutational analysis on thyroid CNB. This methodology consents to identify tumors with a worse outcome at the preoperative time on specimens evaluated for quality and representativeness. This information might be used to individualise treatment decisions, surgical options and follow-up design.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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