Analysis of V600E BRAF mutation in fine needle aspiration from thyroid nodule with suspicious or papillary carcinoma diagnosis

• Grant number: 09/07544-0
• Support Opportunities: Regular Research Grants
• Start date: October 01, 2009
• End date: March 31, 2012
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Suemi Marui
• Grantee: Suemi Marui
• Host Institution: Faculdade de Medicina (FM). Universidade de São Paulo (USP). São Paulo , SP, Brazil

Abstract

Thyroid cancer is the most common endocrine neoplasia, being responsible to 1- 2% of malignant thyroid neoplasia. Recently molecular pathogenesis of thyroid cancer is mostly defined in its subtypes, related to genetic modification at MAPK via, like RAS, RET and BRAF. In thyroid papillary carcinoma, the V600E BRAF mutation is the most frequent found in 30% to 80% of cases. The presence of V600E BRAF mutation is associated to more aggressive tumor and consequently to less favor prognosis. The fine needle aspirative biopsy (FNA) has a high specificity (72% to 100%) and sensitivity (65% to 98%) to diagnose previously surgery benign or malignant thyroid nodules. Until now, few methods to evaluate mutation in BRAF gene from FNA samples were satisfactory in relation to cost-time and sensitivity. Therefore to standardize a specific tool to detect V600E BRAF mutation that is fast and has a high sensitivity, together with cytology would contribute to a particular clinical diagnosis of papillary carcinoma and its variants. Besides, patients with BRAF mutation can have benefits to amplify surgery plans and a tight clinical follow-up. The aim of this study is to search V600E mutation in BRAF gene from FNA guided by ultrasound with cytological diagnosis of suggestion or of papillary thyroid carcinoma. The V600E mutation analysis will be performed using real time PCR genotyping (Applied Biosystem). In this project, we will analyze sensitivity, specificity and accuracy of V600E mutation searching from material obtained from FNA and compare to histological findings. We hopefully contribute to a better surgical planning and follow-up in a near future. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

DUTENHEFNER, SIMONE E.; MARUI, SUEMI; SANTOS, ANDRE B. O.; DE LIMA, ERIKA URBANO; INOUE, MILTON; BRANDAO NETO, JOSE S.; SHIANG, CHRISTINA; FUKUSHIMA, JULIA T.; CERNEA, CLAUDIO R.; FRIGUGLIETTI, CELSO U. M.. BRAF: A Tool in the Decision to Perform Elective Neck Dissection?. THYROID, v. 23, n. 12, p. 1541-1546, DEC 1 2013. (09/07544-0)

DANILOVIC, DEBORA L. S.; LIMA, ERIKA U.; DOMINGUES, REGINA B.; BRANDAO, LENINE G.; HOFF, ANA O.; MARUI, SUEMI. Pre-operative role of BRAF in the guidance of the surgical approach and prognosis of differentiated thyroid carcinoma. EUROPEAN JOURNAL OF ENDOCRINOLOGY, v. 170, n. 4, p. 619-625, APR 2014. (10/12883-6, 09/07544-0)