Detection of RAS mutations in follicular thyroid cells obtained from fine needle aspiration biopsy

• Grant number: 10/12883-6
• Support Opportunities: Regular Research Grants
• Start date: December 01, 2010
• End date: November 30, 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 commonest endocrine neoplasia, being responsible for 1 to 2% of malignant thyroid neoplasia. Nowadays, molecular pathogenesis of papillary thyroid cancer (PTC) has been related to aberrant activation of MAP kinase pathway, triggered by several oncogenes. V600E mutation in BRAF gene is the most frequent, seen in 30% of cases. Using molecular analysis of V600E mutation obtained from fine needle aspiration (FNA), pre-surgery diagnosis of thyroid nodule had higher specificity and sensibility. Nevertheless a significant percentage of patients maintain without molecular diagnosis of thyroid nodule. Followed by BRAF, mutations in RAS genes (H-RAS, K-RAS e N-RAS) are the most frequent found in thyroid carcinoma. As mutation in BRAF gene dismiss others mutations, it is necessary to study RAS genes in that tumors with no BRAF mutation. Our aims are to search of RAS gene mutations in cytology material with III to VI Bethesda categories in patients with thyroid nodules, whose BRAF mutation was excluded. The mutations are located in hot-spots areas in RAS gene. Part of cohort was already obtained from our previous FAPESP project. Therefore, we intend to contribute in the establishment and optimization of a molecular diagnosis that can be used to surgical planning and follow-up of patients with thyroid nodules. (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)

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)