Somatic Mutations in the BRAF , KRAS , NRAS , EIF1AX , and TERT Genes: Diagnostic Value in Thyroid Neoplasms
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Bulletin of Experimental Biology and Medicine, Vol. 169, No. 5, September, 2020
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GENETICS Somatic Mutations in the BRAF, KRAS, NRAS, EIF1AX, and TERT Genes: Diagnostic Value in Thyroid Neoplasms V. A. Kachko, V. E. Vanushko, N. M. Platonova, A. Yu. Abrosimov, and G. A. Mel’nichenko
Translated from Byulleten’ Eksperimental’noi Biologii i Meditsiny, Vol. 169, No. 5, pp. 600-603, May, 2020 Original article submitted December 11, 2019 The feasibility of using molecular genetic markers associated with thyroid neoplasms and more aggressive course of the disease is now actively studied. We analyzed the diagnostic value of somatic mutations in the hot spots of BRAF, KRAS, KRAS, EIF1AX, and TERT genes in histological material from 153 patients with thyroid gland neoplasms. BRAF mutations (exon 15, codon area 600-601) were found in 54 patients, NRAS mutations (exon 3, codon 61) were detected in 12 patients; mutations KRAS, TERT, and EIF1AX genes were not detected. Key Words: thyroid neoplasms; BRAF, KRAS, NRAS, TERT, and EIF1AX mutations Personalized approach in the therapy of tumor implies the choice of treatment tactics with consideration of individual molecular genetic characteristics of a patient. Over the past 10 years, important data has been obtained on the molecular mechanisms of tumor formation; genetic changes associated with various types of thyroid cancer (TC) have been identified. Some markers are now used in the preoperative diagnosis of nodes that according to the results of fine needle aspiration biopsy belong to tumors with uncertain results (diagnostic categories Bethesda III-V) [1,5]. A promising approach is assessment of the molecular genetic status of patients with TC for prediction of the risk of recurrence, because detection of some markers is associated with TC and more aggressive course of the disease [2,13,15]. Our aim was evaluation of the diagnostic value of somatic mutations in hot spot regions of the BRAF, KRAS, KRAS, EIF1AX, and TERT genes, as their deNational Medical Research Center of Endocrinology, Ministry of Health of Russian Federation, Moscow, Russia. Address for correspondence: [email protected]. V. A. Kachko
tection is associated with TC and more aggressive course of the disease.
MATERIALS AND METHODS A prospective, observational, single-center clinical study included patients (N=153) with histologically verified nodular colloid goiter (N=30; 20%), well-differentiated TC (N=90; 59%), and follicular adenoma (N=33; 21%). Histological material was provided in the form of paraffin blocks with surgical material. The search for mutations in the hot spot regions of the BRAF gene (exon 15), NRAS gene (exon 3, codon area 61) and other hot spots of the NRAS gene (exon 2, codon area 12 and 13; exon 3, codon area 59; exon 4, codon area 117 and 146), and in hot spots of the KRAS gene (exon 2, codon area 12 and 13; exon 3, codon area 59 and 61; exon 4, area of codons 117 and 146) in the DNA of the samples was carried out by mutation-specific real time PCR with verification of positive and u
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