open access

Vol 67, No 1 (2016)
Original papers
Published online: 2016-02-17
Submitted: 2015-11-10
Accepted: 2015-11-30
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The usefulness of determining the presence of BRAF V600E mutation in fine-needle aspiration cytology in indeterminate cytological results

Aldona Kowalska, Artur Kowalik, Iwona Pałyga, Agnieszka Walczyk, Danuta Gąsior-Perczak, Janusz Kopczyński, Katarzyna Lizis-Kolus, Dorota Szyska-Skrobot, Stefan Hurej, Agnieszka Radowicz-Chil, Renata Chodurska, Elżbieta Wypiórkiewicz, Małgorzata Chłopek, Ewelina Nowak, Kornelia Niemyska, Stanisław Góźdź
DOI: 10.5603/EP.2016.0006
·
Endokrynologia Polska 2016;67(1):41-47.

open access

Vol 67, No 1 (2016)
Original papers
Published online: 2016-02-17
Submitted: 2015-11-10
Accepted: 2015-11-30

Abstract

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)

Abstract

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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Keywords

BRAF V600E; thyroid cancer; FNAC

About this article
Title

The usefulness of determining the presence of BRAF V600E mutation in fine-needle aspiration cytology in indeterminate cytological results

Journal

Endokrynologia Polska

Issue

Vol 67, No 1 (2016)

Pages

41-47

Published online

2016-02-17

DOI

10.5603/EP.2016.0006

Bibliographic record

Endokrynologia Polska 2016;67(1):41-47.

Keywords

BRAF V600E
thyroid cancer
FNAC

Authors

Aldona Kowalska
Artur Kowalik
Iwona Pałyga
Agnieszka Walczyk
Danuta Gąsior-Perczak
Janusz Kopczyński
Katarzyna Lizis-Kolus
Dorota Szyska-Skrobot
Stefan Hurej
Agnieszka Radowicz-Chil
Renata Chodurska
Elżbieta Wypiórkiewicz
Małgorzata Chłopek
Ewelina Nowak
Kornelia Niemyska
Stanisław Góźdź

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