BRAF (V600E) Mutation in Papillary Thyroid Carcinoma Single Center Experience

BRAF (V600E) Mutation in Papillary Thyroid Carcinoma Single Center Experience

Ilir Vela¹, Igor Dzikovski¹, Nexhati Jakupi¹, Goran Kondov¹, Risto Colancevski¹, Argjent Muça², Slavica Kostadinova Kunovska³, Magdalena Bogdanovska Todorovska³, Sinisa Stojanoski⁴

¹Clinic for Thoracic and Vascular Surgery, Clinical Center “Mother Teresa” – Skopje, R.N. Macedonia.

² Clinic of Endocrinology, diabetes and metabolic diseases, Clinical Center Mother Teresa – Skopje, R.N. Macedonia.

³ Institute of Pathology, Medical Faculty Skopje, R.N. Macedonia.

⁴ Institute of Nuclear Medicine and Pathological Physiology, Medical Faculty Skopje, R.N. Macedonia

Corresponding author:

ILIR VELA

Department of Thoracic Surgery, University Clinic for Thoracic and Vascular Surgery, Medical Faculty Skopje, Republic of North Macedonia. E-mail: [email protected]

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Abstract

BRAF has an important role in cellular proliferation, differentiation, and programmed cell death. The BRAF(V600E) gene mutation has recently been found to be present in various types of cancers. Studies on the BRAF(V600E) mutation in thyroid cancer are intensively examined in various countries, showing that the presence of the BRAF(V600E) mutation varies and ranges from 28% to 86% in papillary thyroid carcinoma. Papillary thyroid carcinoma is the most common type of endocrine malignancy, accounting for 85–90% of all thyroid cancers. However, there is a lack of sufficient studies in the Republic of Macedonia regarding the expression of the BRAF(V600E) mutation in papillary thyroid carcinoma. The aim of the study was to analyze the expression of the gene mutation BRAF(V600E) in papillary thyroid carcinoma and the correlation between expression and clinicopathological characteristics. The study population consisted of 35 patients. The cobas4800 BRAFV600E Mutation IVD test was used for detection of mutations in the BRAF gene, which was performed on the Cobas Z 480 IVD Real-Time PCR instrument (Roche Diagnostic). The test kit included appropriate controls (wild type and mutant). Patients with lymph node metastases had a higher risk of BRAF V600E gene mutation compared to patients without lymph node metastasis of the tumor. Greater patient age, invasion of the capsule, multifocality, and male gender were factors associated with increased expression of the BRAF V600E gene mutation.

Key words. papillary thyroid carcinoma, expression, BRAF(V600E) mutation.

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