Literature DB >> 19534623

A morpho-molecular diagnosis of papillary thyroid carcinoma: BRAF V600E detection as an important tool in preoperative evaluation of fine-needle aspirates.

Ivo Marchetti1, Francesca Lessi, Chiara Maria Mazzanti, Gloria Bertacca, Rossella Elisei, Giancarlo Di Coscio, Aldo Pinchera, Generoso Bevilacqua.   

Abstract

BACKGROUND: Although most thyroid nodule fine-needle aspiration (FNA) diagnoses are definitive or nearly definitive, about 30% of them are not read as definitively benign or malignant, the so-called indeterminate or suspicious FNA diagnosis. The prevalence of malignancy in FNA samples with these diagnoses varies from 10% to 52%. The first aim of this study was to determine if BRAF V600E analysis of thyroid FNA cytological smears could be performed with a relatively simple protocol. We also sought to determine if assessing the presence of BRAF gene mutations in preoperative FNA cytology slides would provide diagnostic information for FNA samples with a reading of indeterminate or suspicious thyroid lesions.
METHODS: DNA was extracted directly from FNA-stained smears of 111 patients with thyroid lesions having different cytological diagnoses. There was 1 cystic nodule, 20 microfollicular proliferations without atypia, 32 that were suspicious for papillary carcinoma, 56 papillary thyroid carcinomas (PTC), and 2 poorly differentiated carcinomas. The BRAF V600E mutational status was determined by sequencing analysis in all patients. The histopathological diagnosis was obtained in all cases.
RESULTS: We observed that 56/90 (62.3%) patients received a definitive diagnosis of PTC when only cytology was used. After molecular analysis, the BRAF V600E mutation was detected in 18/32 (56.2%) cases with a cytology of suspicious for papillary carcinoma and 41/56 (73.2%) with PTC. According to the morpho-molecular analysis (i.e., traditional cytology combined with BRAF V600E analysis) 74/90 (82.2%) patients could be assigned a definitive diagnosis of PTC. Therefore, the addition of molecular analysis yielded an increase of 20% in the sensitivity compared to cytology alone.
CONCLUSIONS: The method of molecular analysis of thyroid FNA smears described here can be easily performed after the FNA, thereby avoiding inconvenience and additional time during the FNA and permitting later analysis of samples having indeterminate cytology features. The increased sensitivity of this preoperative morpho-molecular analysis should provide information that is useful in deciding the extent of thyroid surgery for thyroid nodules that are indeterminate or suspicious on cytology.

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Year:  2009        PMID: 19534623     DOI: 10.1089/thy.2009.0074

Source DB:  PubMed          Journal:  Thyroid        ISSN: 1050-7256            Impact factor:   6.568


  15 in total

1.  Search for genetic mutations in cytological samples from thyroid nodules as a diagnostic tool: reality, hope or myth?

Authors:  F Pacini; S Cantara; M Capezzone
Journal:  J Endocrinol Invest       Date:  2010-09       Impact factor: 4.256

2.  Current concepts and future directions in differentiated thyroid cancer.

Authors:  Donald S A McLeod
Journal:  Clin Biochem Rev       Date:  2010-02

3.  BRAF mutation analysis in thyroid nodules with indeterminate cytology: our experience on surgical management of patients with thyroid nodules from an area of borderline iodine deficiency.

Authors:  P Agretti; F Niccolai; T Rago; G De Marco; A Molinaro; M Scutari; C Di Cosmo; G Di Coscio; M Vitale; M Maccheroni; P Vitti; M Tonacchera
Journal:  J Endocrinol Invest       Date:  2014-09-07       Impact factor: 4.256

Review 4.  Testing for BRAF (V600E) Mutation in Thyroid Nodules with Fine-Needle Aspiration (FNA) Read as Suspicious for Malignancy (Bethesda V, Thy4, TIR4): a Systematic Review and Meta-analysis.

Authors:  Pierpaolo Trimboli; Lorenzo Scappaticcio; Giorgio Treglia; Leo Guidobaldi; Massimo Bongiovanni; Luca Giovanella
Journal:  Endocr Pathol       Date:  2020-03       Impact factor: 3.943

5.  c-KIT receptor expression is strictly associated with the biological behaviour of thyroid nodules.

Authors:  Sara Tomei; Chiara Mazzanti; Ivo Marchetti; Leonardo Rossi; Katia Zavaglia; Francesca Lessi; Alessandro Apollo; Paolo Aretini; Giancarlo Di Coscio; Generoso Bevilacqua
Journal:  J Transl Med       Date:  2012-01-10       Impact factor: 5.531

Review 6.  The utility of BRAF testing in the management of papillary thyroid cancer.

Authors:  Adrienne L Melck; Linwah Yip; Sally E Carty
Journal:  Oncologist       Date:  2010-12-08

7.  Associations of the BRAF(V600E) mutation with sonographic features and clinicopathologic characteristics in a large population with conventional papillary thyroid carcinoma.

Authors:  Ah Young Park; Eun Ju Son; Jeong-Ah Kim; Ji Hyun Youk; Yun Joo Park; Cheong Soo Park; Hang Seok Chang
Journal:  PLoS One       Date:  2014-10-22       Impact factor: 3.240

8.  The combination of four molecular markers improves thyroid cancer cytologic diagnosis and patient management.

Authors:  Federica Panebianco; Chiara Mazzanti; Sara Tomei; Paolo Aretini; Sara Franceschi; Francesca Lessi; Giancarlo Di Coscio; Generoso Bevilacqua; Ivo Marchetti
Journal:  BMC Cancer       Date:  2015-11-19       Impact factor: 4.430

9.  Contribution of the BRAF oncogene in the pre-operative phase of thyroid carcinoma.

Authors:  Homero Gustavo Correia Rodrigues; Alana Abrantes Nogueira DE Pontes; Luis Fernando Adan
Journal:  Oncol Lett       Date:  2013-05-22       Impact factor: 2.967

10.  Impact of molecular testing in the diagnosis of thyroid fine needle aspiration cytology: data from mainland China.

Authors:  Hui-qin Guo; Huan Zhao; Zhi-hui Zhang; Yan-li Zhu; Ting Xiao; Qin-jing Pan
Journal:  Dis Markers       Date:  2014-01-29       Impact factor: 3.434

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