Role of BRAF molecular analysis in the management of papillary thyroid carcinoma: Analysis of cytological and histological samples

L. Capelli, C. Marfisi, M. Puccetti, L. Saragoni, F. De Paola, A. Zaccaroni, E. Chiadini, L. Gagliardi, G. Ferretti, W. Zoli, P. Ulivi

Research output: Contribution to journalArticle

Abstract

Background: Although fine needle aspiration (FNA) is the standard diagnostic test for the characterization of a suspicious thyroid nodule, in some cases cytological evaluation is inconclusive. The aim of this study was to determine the role of BRAF mutation in aiding diagnosis and to verify whether archival cytological samples could be suitable for molecular analysis. Methods: Eighty-five patients with suspicious (Thy4) or follicular (Thy3) lesions on cytology were resubmitted to a second FNA for BRAF mutation analysis. Of these, 56 subsequently underwent surgery. The usefulness of archival samples for molecular analysis was also studied in a second cohort of 42 patients with a confirmed diagnosis of papillary thyroid carcinoma for whom both archived paraffin-embedded histological samples and cytological smears were available. A further 15 patients with paired fresh FNA and archived cytological and histological samples were recruited. Results: BRAF mutation was found in the fresh FNA samples from 10 of 56 patients who had surgery with previous inconclusive cytology (4/45, 9%, Thy3 and 6/11, 55%, Thy4). The BRAF test showed a specificity and positive predictive value of 100% (26/26 and 10/10, respectively), sensitivity of 33% (10/30) and negative predictive value of 57% (26/46). There was absolute concordance between the BRAF results obtained with 42 histological and cytological archived samples. BRAF analysis on 15 archived cytological samples showed absolute concordance with histology, whereas there was one false negative on the matched fresh FNA. Conclusion: BRAF analysis is a highly specific test that can facilitate cytological diagnosis in some cases and can also be performed on archived cytological samples.

Original languageEnglish
Pages (from-to)297-302
Number of pages6
JournalCytopathology
Volume26
Issue number5
DOIs
Publication statusPublished - Oct 1 2015

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Fine Needle Biopsy
Mutation
Cell Biology
Thyroid Nodule
Routine Diagnostic Tests
Paraffin
Histology
Papillary Thyroid cancer

Keywords

  • BRAF
  • Cytological samples
  • Fine needle aspiration
  • Mutation
  • Papillary thyroid carcinoma
  • Thyroid nodules

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Histology

Cite this

Role of BRAF molecular analysis in the management of papillary thyroid carcinoma : Analysis of cytological and histological samples. / Capelli, L.; Marfisi, C.; Puccetti, M.; Saragoni, L.; De Paola, F.; Zaccaroni, A.; Chiadini, E.; Gagliardi, L.; Ferretti, G.; Zoli, W.; Ulivi, P.

In: Cytopathology, Vol. 26, No. 5, 01.10.2015, p. 297-302.

Research output: Contribution to journalArticle

Capelli, L, Marfisi, C, Puccetti, M, Saragoni, L, De Paola, F, Zaccaroni, A, Chiadini, E, Gagliardi, L, Ferretti, G, Zoli, W & Ulivi, P 2015, 'Role of BRAF molecular analysis in the management of papillary thyroid carcinoma: Analysis of cytological and histological samples', Cytopathology, vol. 26, no. 5, pp. 297-302. https://doi.org/10.1111/cyt.12199
Capelli, L. ; Marfisi, C. ; Puccetti, M. ; Saragoni, L. ; De Paola, F. ; Zaccaroni, A. ; Chiadini, E. ; Gagliardi, L. ; Ferretti, G. ; Zoli, W. ; Ulivi, P. / Role of BRAF molecular analysis in the management of papillary thyroid carcinoma : Analysis of cytological and histological samples. In: Cytopathology. 2015 ; Vol. 26, No. 5. pp. 297-302.
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abstract = "Background: Although fine needle aspiration (FNA) is the standard diagnostic test for the characterization of a suspicious thyroid nodule, in some cases cytological evaluation is inconclusive. The aim of this study was to determine the role of BRAF mutation in aiding diagnosis and to verify whether archival cytological samples could be suitable for molecular analysis. Methods: Eighty-five patients with suspicious (Thy4) or follicular (Thy3) lesions on cytology were resubmitted to a second FNA for BRAF mutation analysis. Of these, 56 subsequently underwent surgery. The usefulness of archival samples for molecular analysis was also studied in a second cohort of 42 patients with a confirmed diagnosis of papillary thyroid carcinoma for whom both archived paraffin-embedded histological samples and cytological smears were available. A further 15 patients with paired fresh FNA and archived cytological and histological samples were recruited. Results: BRAF mutation was found in the fresh FNA samples from 10 of 56 patients who had surgery with previous inconclusive cytology (4/45, 9{\%}, Thy3 and 6/11, 55{\%}, Thy4). The BRAF test showed a specificity and positive predictive value of 100{\%} (26/26 and 10/10, respectively), sensitivity of 33{\%} (10/30) and negative predictive value of 57{\%} (26/46). There was absolute concordance between the BRAF results obtained with 42 histological and cytological archived samples. BRAF analysis on 15 archived cytological samples showed absolute concordance with histology, whereas there was one false negative on the matched fresh FNA. Conclusion: BRAF analysis is a highly specific test that can facilitate cytological diagnosis in some cases and can also be performed on archived cytological samples.",
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T1 - Role of BRAF molecular analysis in the management of papillary thyroid carcinoma

T2 - Analysis of cytological and histological samples

AU - Capelli, L.

AU - Marfisi, C.

AU - Puccetti, M.

AU - Saragoni, L.

AU - De Paola, F.

AU - Zaccaroni, A.

AU - Chiadini, E.

AU - Gagliardi, L.

AU - Ferretti, G.

AU - Zoli, W.

AU - Ulivi, P.

PY - 2015/10/1

Y1 - 2015/10/1

N2 - Background: Although fine needle aspiration (FNA) is the standard diagnostic test for the characterization of a suspicious thyroid nodule, in some cases cytological evaluation is inconclusive. The aim of this study was to determine the role of BRAF mutation in aiding diagnosis and to verify whether archival cytological samples could be suitable for molecular analysis. Methods: Eighty-five patients with suspicious (Thy4) or follicular (Thy3) lesions on cytology were resubmitted to a second FNA for BRAF mutation analysis. Of these, 56 subsequently underwent surgery. The usefulness of archival samples for molecular analysis was also studied in a second cohort of 42 patients with a confirmed diagnosis of papillary thyroid carcinoma for whom both archived paraffin-embedded histological samples and cytological smears were available. A further 15 patients with paired fresh FNA and archived cytological and histological samples were recruited. Results: BRAF mutation was found in the fresh FNA samples from 10 of 56 patients who had surgery with previous inconclusive cytology (4/45, 9%, Thy3 and 6/11, 55%, Thy4). The BRAF test showed a specificity and positive predictive value of 100% (26/26 and 10/10, respectively), sensitivity of 33% (10/30) and negative predictive value of 57% (26/46). There was absolute concordance between the BRAF results obtained with 42 histological and cytological archived samples. BRAF analysis on 15 archived cytological samples showed absolute concordance with histology, whereas there was one false negative on the matched fresh FNA. Conclusion: BRAF analysis is a highly specific test that can facilitate cytological diagnosis in some cases and can also be performed on archived cytological samples.

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