<i>BRAF</i>V600E Mutation Analysis in Fine-Needle Aspiration Cytology Specimens for Evaluation of Thyroid Nodule: A Large Series in a<i>BRAF</i>V600E-Prevalent Population

Kim, Sun Wook; Lee, Ji In; Kim, Jong-Won; Ki, Chang‐Seok; Oh, Young Lyun; Choi, Yoon‐La; Shin, Jung Hee; Kim, Hee Kyung; Jang, Hye Won; Chung, Jae Hoon

doi:10.1210/jc.2009-2795

Cited by 151 publications

(160 citation statements)

References 27 publications

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“…As many as 181 (18.3%) FNACC results were in group 6, and postoperatively on histopathology in 180 cases of PTC [162 BRAF V600E (+), and among BRAF V600E (-): 18-PTC and in one-MTC] were revealed. 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].…”

Section: Discussionsupporting

confidence: 66%

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

Kowalska

Kowalik

Pałyga

et al. 2016

Endokrynologia Polska

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Introduction: Fine-needle aspiration biopsy (FNAB) is regarded as the gold standard method for the diagnosis of thyroid nodules, but it has its limitations. Additional methods that would improve sensitivity and specificity in the diagnosis of thyroid cancer (TC), especially in indeterminate lesions. Molecular tests seem to be such a tool. BRAF V600E mutation (the most common in TC) can be detected in FNAB and can be potentially a very useful ancillary marker for FNAB practice. The aim of our study was to evaluate the usefulness of the detection of the BRAF V600E mutation in FNAC in the early diagnosis of TC in patients with indeterminate cytology. Material and method: 2290 FNAB were performed and 147 indeterminate results (group 3, 4, and 5 of the Bethesda system) were obtained. Material from these groups was submitted for molecular tests for the occurrence of BRAF V600E mutation. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of the tests were calculated. Results: Determining the presence of BRAF V600E mutation in FNAC material in groups 3 and 4 together and in group 5 is associated with sensitivity of TC diagnosis of 37.5% and 81.8%, respectively. In all cases the detection of BRAF V600E mutation was associated with histopathologically proving the presence of TC (specificity of the test -100%). Conclusions:1. The presence of BRAF V600E mutation in FNAC material is always associated with the presence of TC. 2. The usefulness of determining the presence of BRAF V600E in FNAC in cytological groups 3 and 4 is associated with low sensitivity in the diagnosis of thyroid cancer. 3. Due to its high specificity BRAF V600E study may be useful in determining the scope of surgery in patients in cytological group 5. (Endokrynol Pol 2016; 67 (1): 41-47)

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Section: Discussionsupporting

confidence: 66%

“…Sensitivity markers of BRAF V600E mutation in material obtained from FNAB in the diagnosis of TC in different studies range from about 32% (Cohen [19]) to 82 % (Kim [20]). …”

Section: Discussionmentioning

confidence: 99%

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

Kowalska

Kowalik

Pałyga

et al. 2016

Endokrynologia Polska

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“…Zatelli et al (2009) found sensitivity of 64% and Sapio et al (2007) found sensitivity of 37.5% from specimens of inconclusive cytology. A study from Kim et al (2010), in Korea where the prevalence of BRAF mutation is high on their population revealed a sensitivity of 82.5% and a higher value until 98.5% if BRAF mutation was combined with cytology examination.…”

Section: Discussionmentioning

confidence: 99%

Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

Brahma

Yulian

Ramli³

et al. 2013

Asian Pacific Journal of Cancer Prevention

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Background: Throughout Indonesia, thyroid cancer is one of the ten commonest malignancies, with papillary thyroid carcinoma (PTC) in our hospital accounting for about 60% of all thyroid nodules. Although fine needle aspiration biopsy (FNAB) is the most reliable diagnostic tool, some nodules are diagnosed as indeterminate and second surgery is common for PTC. The aim of this study was to establish the diagnostic value and feasibility of testing the BRAF T1799A mutation on FNA specimens for improving PTC diagnosis. Materials and Methods: This prospective study enrolled 95 patients with thyroid nodules and future surgery planned. Results of mutational status were compared with surgical pathology diagnosis. Results: Of the 70 cases included in the final analysis, 62.8% were PTC and the prevalence of BRAF mutation was 38.6%. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for BRAF mutation analysis were 36%, 100%, 100% and 48%, respectively. With other data findings, nodules with "onset less than 5 year" and "hard consistency" were proven as diagnostic determinants for BRAF mutation with a probability of 62.5%. This mutation was also a significant risk factor for extra-capsular extension. Conclusions: Molecular analysis of the BRAF T1799A mutation in FNAB specimens has high specificity and positive predictive value for PTC. It could be used in the selective patients with clinical characteristics to facilitate PTC diagnosis and for guidance regarding extent of thyroidectomy.

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“…Recent studies reported that the BRAF mutation is a highly accurate marker of malignancy for thyroid nodules sampled by FNAB [205][206][207][208][209]. However, the most frequent diagnostic problems in FNAB samples are indeterminate follicular tumors and suspicion of malignancy according to the Bethesda system.…”

Section: Molecular Targets In Histopathological Diagnosis and Classifmentioning

confidence: 99%

An update on molecular biology of thyroid cancers

Ömür

Baran

2014

Critical Reviews in Oncology/Hematology

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BRAFV600E Mutation Analysis in Fine-Needle Aspiration Cytology Specimens for Evaluation of Thyroid Nodule: A Large Series in aBRAFV600E-Prevalent Population

Abstract: Molecular testing for the BRAFV600E mutation in FNA thyroid nodule specimens increases diagnostic value when applied in a BRAFV600E mutation-prevalent population. However, when using this potentially powerful technique, we must consider both its strengths and its weaknesses.

Cited by 151 publications

References 27 publications

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

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

Surgical Perspective of T1799A BRAF Mutation Diagnostic Value in Papillary Thyroid Carcinoma

An update on molecular biology of thyroid cancers

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