The status of BRAFV600E mutation among Egyptian patients with papillary thyroid carcinoma

Abstract

The T1799A activating point mutation in v-Raf murine sarcoma viral oncogene homolog B1 (BRAF) is considered to be the most common genetic change in papillary thyroid cancer. It causes a change in the amino acid valine at position 600 to glutamic acid in the BRAF protein kinase, causing abnormal activation of the signaling pathway mitogen-activated protein kinase. Being associated with aggressive clinicopathological outcomes, it is now considered as a strong prognostic molecular marker for poorer prognosis of papillary thyroid carcinoma. The aim of the study was to investigate the frequency of the BRAFV600E mutation among the Egyptian patients with papillary thyroid carcinoma and to correlate with the clinicopathological status of the patients. The study included 50 formalin-fixed paraffin-embedded thyroid tumor tissue samples collected from the Department of Surgical Pathology, Faculty of Medicine, Cairo University, and the Egyptian National Cancer Institute. Patients’ data archived from records included age, sex, multifocality, lymph node metastasis, vascular invasion, and distant metastasis. The V600E mutation was tested by polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. One (2 %) out of the 50 tumor tissue samples was found to be positive for the BRAFV600E mutation. Large-scale studies and inclusion of multiple molecular markers are recommended to elucidate the molecular basis of papillary thyroid carcinoma among Egyptian patients.