体细胞 BRAF、KRAS、NRAS、EIF1AX 和 TERT 基因突变：甲状腺肿瘤的诊断价值。
Somatic Mutations in the BRAF, KRAS, NRAS, EIF1AX, and TERT Genes: Diagnostic Value in Thyroid Neoplasms.
机构信息
National Medical Research Center of Endocrinology, Ministry of Health of Russian Federation, Moscow, Russia.
出版信息
Bull Exp Biol Med. 2020 Sep;169(5):669-672. doi: 10.1007/s10517-020-04951-1. Epub 2020 Sep 29.
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.
目前，人们正在积极研究与甲状腺肿瘤和疾病侵袭性更强相关的分子遗传标记物的可行性。我们分析了 153 例甲状腺肿瘤患者组织学标本中 BRAF、NRAS、KRAS、EIF1AX 和 TERT 基因热点体突变的诊断价值。在 54 例患者中发现了 BRAF 突变（外显子 15，密码子 600-601 位），在 12 例患者中检测到 NRAS 突变（外显子 3，密码子 61 位）；未检测到 KRAS、TERT 和 EIF1AX 基因突变。
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