Diagnostic value of pyrosequencing for the BRAF^V600E mutation in ultrasound‐guided fine‐needle aspiration biopsy samples of thyroid incidentalomas

Abstract

Pyrosequencing may be suitable for detecting the BRAF(V600E) mutation in thyroid incidentaloma and may be superior to dideoxy sequencing when low amounts of the mutant template are present in the biopsy.

Przydatność określania obecności mutacji BRAF V600E w biopsji aspiracyjnej celowanej cienkoigłowej w zmianach niezdeterminowanych

“…This is probably the reason for such high sensitivity: 82.5% obtained in this study [20]. A high (75%) sensitivity was also obtained in detection of BRAF V600E mutation in the study by Jo et (+) mutation was present in 22 patients with cytological group 6 (malignant), in 7 indeterminate nodules, and in 1 from the non diagnostic cytology group [21].…”

Molecular analysis of thyroid tumors

“…This reportedly benign nodule had a histopathological diagnosis of 'atypical nodular hyperplasia' and was not examined using modern immunohistochemical techniques that are helpful in the diagnosis of thyroid malignancy in difficult cases. 93 Importantly, 15-40% of BRAF-positive FNA samples are indeterminate or nondiagnostic by cytology, 69,70,82,85,87,88 indicating that testing for BRAF is helpful in establishing the definitive diagnosis of cancer in nodules with indeterminate cytology.…”

“…The results of BRAF testing in 2766 FNA samples have been reported in 18 prospective and retrospective studies. 65,66,69,70,[79][80][81][82][83][84][85][86][87][88][89][90][91][92] Among 581 BRAF-positive nodules tested in FNA samples in these studies, 580 were papillary carcinomas on pathological examination of the resected nodules, whereas one was diagnosed as a benign nodule, 92 resulting in the false-positive rate of 0.2%. This reportedly benign nodule had a histopathological diagnosis of 'atypical nodular hyperplasia' and was not examined using modern immunohistochemical techniques that are helpful in the diagnosis of thyroid malignancy in difficult cases.…”

BRAF mutations in non-small cell lung cancer: has finally Janus opened the door?

“…The main disadvantage of this method is not being capable of detecting mutations other than V600. Newer techniques, such as next generation sequencing (NGS), provide a faster and more effective way of sequencing DNA from biopsy samples (Jo et al, 2009). NGS has the advantage of providing information about other BRAF mutation variants (non-V600).…”