Diagnostic utility of BRAF V600E mutation testing in thyroid nodules in elderly patients

Abstract

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.

Surgical approach in thymectomy: Our experience and review of the literature

“…Several studies have demonstrated the superiority of the VATS approach over sternotomy such as a smaller incisions with better cosmesis and less trauma to the chest wall, a decreased post-operative stay, a complete remission and no difference in outcome as compared to the open approach allowing an early adjuvant chemo-radiation treatment in advanced cases. However, most of the authors use the VATS approach when the tumor diameter is less than 5 cm or 6 cm, not involving the innominate vein, with little or no evidence of invasion or compression of major mediastinal structures [32] , [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] . Furthermore, VATS is considered a better approach for less intra-operative blood loss and early removal of chest drains.…”

Wartość powtórnego badania stanu mutacji genu BRAF V600E w diagnostyce raka brodawkowatego tarczycy

“…It is less frequent amongst young people and increases progressively with age [10]. Frequent use of sensitive diagnostic techniques such as high-resolution ultrasonography, computerised tomography, and magnetic resonance or positron emission tomography may be responsible for incidental detection of thyroid tumours.…”

“…Identification of the BRAF V600E mutation has high specificity and a positive prediction value (PPV) for PTC [7]. Nevertheless, it is important to consider that the prevalence of the BRAF V600E mutation depends on its detection methods, geographical factors, and age [10]. The object was to determine the value of reassessing the presence of the BRAF V600E mutation in making the diagnosis of PTC.…”

Pulmonary arterovenous malformation causing hemothorax in a pregnant woman without Osler- Weber-Rendu syndrome

“…These AVMs increase in size during pregnancy [3]. The differential diagnosis was for: abnormal systemic vessels, highly vascular parenchymal mass, other congenital or acquired pulmonary arterial or venous lesions (e.g pulmonary varix), retroperitoneal varices [11,16,21–32]. …”