Diagnostic utility of BRAFV600E mutation testing in thyroid nodules in elderly patients

BMC Surgery

Research Article

Chiara Carlomagno¹  Massimo Tonacchera²  Pio Zeppa³  Mario Vitale³  Alfredo Garzi³  Vincenzo Di Crescenzo³  Stefano Pepe³  Anna Guerra³  Mariapia Cinelli⁴ 

[1] Department of Clinical Medicine and Surgery, University of Naples "Federico II", Naples, Italy;Department of Endocrinology, Research Center of Excellence AmbiSEN, University of Pisa, Pisa, Italy;Department of Medicine and Surgery, University of Salerno, Salerno, Italy;Department of Public Health, University of Naples "Federico II", Naples, Italy;

关键词: Thyroid Cancer;    Papillary Thyroid Carcinoma;    Elderly Subject;    Thyroid Nodule;    BRAF Mutation;   

DOI  :  10.1186/1471-2482-13-S2-S37

来源: Springer

【 摘 要 】

BackgroundThyroid cancer is a rare disease characterized by the subtle appearance of a nodule. Fine-needle cytology (FNC) is the first diagnostic procedure used to distinguish a benign from a malignant nodule. However, FNC yields inconclusive results in about 20% of cases. BRAFV600E mutation is the most frequent genetic alteration in papillary thyroid carcinoma (PTC); its high prevalence makes this oncogene a useful marker to refine inconclusive FNC results. However, the prevalence of the BRAFV600E mutation depends on detection methods, geographical factors, and age. The aim of this study is to determine the prevalence of BRAFV600E mutation and its utility as a diagnostic tool in elderly subjects.MethodsFNC from 92 PTC patients were subjected to the analysis of BRAF mutation by pyrosequencing and direct sequencing; age-dependent prevalence was also determined.ResultsBRAF mutation analysis was successful in all FNC specimens. BRAFV600E was documented in 62 (67.4%) and in 58 (63.0%) PTCs by pyrosequencing and direct sequencing, respectively. BRAFV600E prevalence did not correlate with patient's age at diagnosis. Twenty out of 32 PTCs (62.5%) were correctly diagnosed by BRAF mutation analysis in inconclusive FNC results.ConclusionsDetection of BRAFV600E in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects.

【 授权许可】

Unknown   
© Guerra et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.