Literature DB >> 22181337

Detection of the BRAF(V600E) mutation in fine needle aspiration cytology of thyroid papillary microcarcinoma cells selected by manual macrodissection: an easy tool to improve the preoperative diagnosis.

Ivo Marchetti1, Giorgio Iervasi, Chiara Maria Mazzanti, Francesca Lessi, Sara Tomei, Antonio Giuseppe Naccarato, Paolo Aretini, Baldassare Alberti, Giancarlo Di Coscio, Generoso Bevilacqua.   

Abstract

BACKGROUND: Papillary carcinomas with diameters that are less than or equal to 1 cm (thyroid papillary microcarcinoma [mPTC]) are quite common but can carry more risk than previously thought. The proper treatment and management of these lesions is still being debated. Even though fine needle aspiration cytology (FNAC) is considered the best method for the diagnosis of thyroid nodules, its efficacy is still questioned for mPTC. We investigated the role of BRAF gene status in preoperative cytological samples, using manual macrodissection as an additional tool to improve the diagnostic accuracy of mPTC.
METHODS: DNA was extracted directly from stained FNAC smears of 95 patients including 85 with histological diagnoses of papillary thyroid carcinoma (PTC) ≤1 cm and 10 with goiters. The cytological diagnoses of the 95 cases included the following: 42 samples were suspicious for papillary carcinoma, 38 were PTCs, and 15 were indeterminate lesions. DNA was then extracted from the FNAC slides after performing a "manual macrodissection" procedure. The BRAF(V600E) mutational status was determined by sequence analysis in all the patients.
RESULTS: In this study, we showed that the BRAF(V600E) mutation was present with a high frequency in patients with mPTC (74%). The presence of the mutation was independent of the size of the tumor. In our study, the combination of the cytological diagnosis and the molecular analysis was able to identify 82% of all cases of mPTC, with an increase of 37% compared with a morphological diagnosis alone. The morpho-molecular analysis was able to reduce the number of suspicious cases by >70%. All of the goiters had a wild-type BRAF status.
CONCLUSIONS: The analysis of BRAF mutational status in FNAC obtained from papillary microcarcinomas demonstrates that molecular pathology, combined with morphology and molecular biology is a powerful tool for cytological diagnosis of mPTC. Our results also confirm the data supporting the biological relevance of PTCs with diameters that are ≤1 cm and the importance of "manual macrodissection" in the molecular analysis of cytological material.

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Year:  2011        PMID: 22181337     DOI: 10.1089/thy.2011.0107

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


  15 in total

1.  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 2.  Molecular testing in the diagnosis of differentiated thyroid carcinomas.

Authors:  Silvia Martina Ferrari; Poupak Fallahi; Ilaria Ruffilli; Giusy Elia; Francesca Ragusa; Sabrina Rosaria Paparo; Salvatore Ulisse; Enke Baldini; Riccardo Giannini; Paolo Miccoli; Alessandro Antonelli; Fulvio Basolo
Journal:  Gland Surg       Date:  2018-08

3.  BRAFV600E mutation in papillary thyroid microcarcinoma: a meta-analysis.

Authors:  Fei Li; Guangqi Chen; Chunjun Sheng; Aaron M Gusdon; Yueye Huang; Zhongwei Lv; Huixiong Xu; Mingzhao Xing; Shen Qu
Journal:  Endocr Relat Cancer       Date:  2015-01-15       Impact factor: 5.678

4.  BRAF(V⁶⁰⁰E) mutation and its association with clinicopathological features of papillary thyroid microcarcinoma: A meta-analysis.

Authors:  Yu-Jia Ma; Xiu-Ling Deng; Hui-Qing Li
Journal:  J Huazhong Univ Sci Technolog Med Sci       Date:  2015-07-31

5.  Clinical significance of preoperative detection of serum p53 antibodies and BRAF(V600E) mutation in patients with papillary thyroid carcinoma.

Authors:  Qing-Feng Fu; Peng-Tao Pan; Le Zhou; Xiao-Li Liu; Feng Guo; Li Wang; Hui Sun
Journal:  Int J Clin Exp Med       Date:  2015-11-15

6.  RET/PTC Translocations and Clinico-Pathological Features in Human Papillary Thyroid Carcinoma.

Authors:  Cristina Romei; Rossella Elisei
Journal:  Front Endocrinol (Lausanne)       Date:  2012-04-11       Impact factor: 5.555

7.  Molecular diagnostics of fine needle aspiration for the presurgical screening of thyroid nodules.

Authors:  Poupak Fallahi; Riccardo Giannini; Paolo Miccoli; Alessandro Antonelli; Fulvio Basolo
Journal:  Curr Genomics       Date:  2014-06       Impact factor: 2.236

8.  INCIDENTAL PULMONARY METASTASES REVEALING SUBCENTIMETER PAPILLARY THYROID CARCINOMA.

Authors:  Ruey Hu; George Xu; Thomas Stricker; Bingshan Li; Vivian L Weiss; Lindsay Bischoff
Journal:  AACE Clin Case Rep       Date:  2020-09-21

9.  Vanishing thyroid tumors: a diagnostic dilemma after ultrasonography-guided fine-needle aspiration.

Authors:  Ogechukwu P Eze; Guoping Cai; Zubair W Baloch; Ashraf Khan; Renu Virk; Lynwood W Hammers; Robert Udelsman; Sanziana A Roman; Julie A Sosa; Tobias Carling; David Chhieng; Constantine G A Theoharis; Manju L Prasad
Journal:  Thyroid       Date:  2012-12-28       Impact factor: 6.506

10.  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

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