The possibility of using freely circulating DNA blood plasma in preoperative diagnosis of thyroid tumors

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Abstract

Abstract


Background: The feasibility of using molecular genetic markers for the diagnosis of thyroid tumors and the impact on the prognosis of thyroid cancer are being actively investigated. The most interesting are genes, the detection of which is associated not only with thyroid cancer, but also with a more aggressive course of the disease. The ability to diagnose the molecular profile of minimally invasive methods with the study of freely circulating DNA tumor tissue in blood plasma is a modern trend of medicine.
Aims: to evaluate the frequency of somatic mutations in the "hot spots" of BRAF, KRAS, KRAS, EIF1AX and TERT genes in circulating DNA of blood plasma.
Materials and methods: Samples of DNA, extracted from the removed tumor and non-tumor thyroid tissue, were tested for the presence of somatic mutations in hot spots of the genes BRAF, KRAS, NRAS, TERT, and EIF1AX and then in identifying mutations and testing appropriate samples of free circulating DNA in blood plasma.
Results: mutations in the" hot spots "of the BRAF gene (exon 15, codon area 600-601) were found in 54 patients, mutations in the" hot spots " of the NRAS gene (exon 3, codon 61) – in 12 patients; mutations in the hot spots of the KRAS, TERT and EIF1AX genes were not detected. In freely circulating blood plasma DNA, BRAF gene mutations were detected in 1 case, NRAS gene mutations were detected in 1 case.
Conclusions: the use of freely circulating DNA of blood plasma in the testing of the studied sample did not show the feasibility for the diagnosis of thyroid tumors.

About the authors

Vera Kachko

I.M. Sechenov First Moscow State Medical University (Sechenov University), Department of Endocrinology, Moscow, Russia

Author for correspondence.
Email: VeraF246@gmail.com
ORCID iD: 0000-0002-0617-7312
SPIN-code: 5869-7470

Russian Federation, Трубецкая ул., 8, стр. 2, Москва, Россия

postgraduate

Vladimir Vanushko

Endocrinology Research Centre, Moscow, Russia

Email: vanushko@gmail.com
ORCID iD: 0000-0001-6338-7490
SPIN-code: 6097-8990

Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow, Russia

MD, PhD

Nadezhda Platonova

Endocrinology Research Centre, Moscow, Russia

Email: doc-platonova@inbox.ru
ORCID iD: 0000-0001-6388-1544
SPIN-code: 4053-3033

Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow, Russia

MD, PhD

Aleksandr Abrosimov

Endocrinology Research Centre, Moscow, Russia

Email: nikitarusskikh@mail.ru
ORCID iD: 0000-0001-8284-9996
SPIN-code: 4089-9502

Russian Federation, 11 Dm.Ulyanova street, 117036 Moscow, Russia

MD, PhD

Galina Snigireva

Russian Research Center of Roentgenoradiology

Email: sni_gal@mail.ru
ORCID iD: 0000-0002-2584-802X
SPIN-code: 4247-0600

Russian Federation, 117997, Moscow, Profsoyusnaya, 86.

Dr, PhD

Ekaterina Tely`sheva

Russian Research Center of Roentgenoradiology

Email: telisheva_k@mail.ru
ORCID iD: 0000-0002-0370-8667
SPIN-code: 8700-1335

Russian Federation, 117997, Moscow, Profsoyusnaya, 86.

researcher

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Copyright (c) Kachko V., Vanushko V., Platonova N., Abrosimov A., Snigireva G., Tely`sheva E.

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