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

2020 ◽  
Author(s):  
Vera Kachko ◽  
Vladimir Vanushko ◽  
Nadezhda Platonova ◽  
Aleksandr Abrosimov ◽  
Galina Snigireva ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Blood Plasma ◽  
Hot Spots ◽  
Somatic Mutations ◽  
Gene Mutations ◽  
Circulating Dna ◽  
Thyroid Tumors ◽  
Braf Gene ◽  
Gene Exon ◽  
In Blood Plasma

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.

scholarly journals Somatic mutation testing: the role in differential diagnosis of thyroid neoplasms

2019 ◽  
Vol 13 (1) ◽  
pp. 26-41
Author(s):  
Vera A. Kachko ◽  
Andrew R. Zaretsky ◽  
Vladimir E. Vanushko ◽  
Nadezhda M. Platonova ◽  
Aleksandr Yu. Abrosimov ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Blood Plasma ◽  
Treatment Strategy ◽  
Hot Spots ◽  
Thyroid Neoplasms ◽  
Mutation Testing ◽  
Thyroid Tumors ◽  
Braf Gene ◽  
Cytological Examination ◽  
Gene Exon

Background: In the preoperative diagnosis of thyroid tumors the cytological examination of the material of fine needle aspiration biopsy is the gold standard and serves as the basis for planning of treatment strategy. However, in 10–30% of cases, it cannot be clearly established by cytology whether the nature of thyroid neoplasm benign or malignant, which leads to the inability to choose the optimal treatment strategy in advance. For such cases, it is extremely important to search for methods of clarifying differential diagnosis, among which mutation testing is currently considered the most promising. Aims: To evaluate the possibility of using mutation tests for clarifying differential diagnosis of thyroid neoplasms at the preoperative stage. Materials and methods: We performed the prospective single center study, which included patients with the thyroid neoplasms, who had been treated in the Endocrinology Research Center, Moscow, Russia from 2012 to 2014. Samples of histological material, cytological material and blood plasma of these patients were tested for the presence of somatic mutations in hot spots of the genes BRAF, KRAS, NRAS, TERT, and EIF1AX. Results: The study included 75 patients, 29 of them with low-risk papillary thyroid cancer, 29 with follicular neoplasm NA of the thyroid gland and 17 with colloid nodular goiter. Mutations in the “hot spots” of the BRAF gene (exon 15, codon area 600–601) were found in 29 patients, mutations in the “hot spots” of the NRAS gene (exon 3, codon 61) – in 8 patients; mutations in the hot spots of the KRAS, TERT and EIF1AX genes were not detected. Correlation of the results of mutational testing of cytological and histological material was 91.7%. Mutations of tumor origin in circulating blood plasma DNA were found in only 1 cases. The prognostic value of the positive result (PPV) of the mutation test on cytological material in relation to the malignant nature of the thyroid tumor was 100% for the BRAF gene and 0% for the NRAS gene. Conclusions: The mutation test in the “hot spots” of the BRAF gene on cytological material can be used as an additional marker to clarify the nature of thyroid tumors, when the result of cytological examination are uncertain. Either in similar situations for mutation tests in the “hot spots” of genes KRAS, NRAS, EIF1AX and TERT on cytological material, or mutation testing of circulating DNA of blood plasma can’t be used as an additional marker.

scholarly journals Prognostic value of somatic mutation testing and different methods of treatment of low-risk differentiated thyroid cancer

2019 ◽  
Vol 13 (2) ◽  
pp. 75-88
Author(s):  
Vera A. Kachko ◽  
Vladimir E. Vanushko ◽  
Nadezhda M. Platonova
Keyword(s):  
Thyroid Cancer ◽  
Cancer Patients ◽  
Hot Spots ◽  
Prognostic Value ◽  
Differentiated Thyroid Cancer ◽  
Somatic Mutations ◽  
Low Risk ◽  
Complex Treatment ◽  
Well Differentiated ◽  
Gene Exon

Background: Using molecular testing for prediction the course of the disease could possibly help doctors in making therapeutic decisions about the management of patients, because it remains controversial issues in low-risk differentiated thyroid cancer patients. The experts opinions are different on the volume of treatment of these patients: the adequacy of hemitireoidectomy, the need to remove the lymph nodes of the central zone (level VI) and the need for radioiodine therapy. Aims: to evaluate the frequency of recurrences in different complex treatment options of low-risk differentiated thyroid cancer; to evaluate the frequency of somatic mutations in the hot spots of BRAF, KRAS, KRAS, EIF1AX and TERT genes in histological material and to evaluate their prognostic value. Materials and methods: A prospective, observational, cohort, sample, single-center, open-label, controlled, nonrandomized clinical trial was performed, which included patients with the thyroid neoplasms, recruited in the period from 2012 to 2014. Samples of histological material were tested for the presence of somatic mutations in hot spots of the genes BRAF, KRAS, NRAS, TERT, and EIF1AX. After the treatment, the low-risk differentiated thyroid cancer patients group were observed for 4368 months. Results: The study included 90 patients with low-risk well differentiated thyroid cancer. Mutations in the hot spots of the BRAF gene (exon 15, codon area 600-601) were found in 53 patients, mutations in the hot spots of the NRAS gene (exon 3, codon 61) in 3 patients; mutations in the hot spots of the KRAS, TERT and EIF1AX genes were not detected. The median follow-up in the well differentiated thyroid cancer group was 56 months. Recurrence diagnosed in 12 patients (13.3%), significant differences in the frequency of recurrence depending on the surgical treatment option was not revealed, significant differences in the frequency of recurrence between the groups BRAF+/BRAF was not revealed. Conclusions: Low-risk well differentiated thyroid cancer patients have characterized a very favorable the course of disease and prognosis, even in the case of recurrence. In this study, complex treatment has not shown significant advantages over thyroidectomy in treating patients with thyroid microcarcinomas. Mutation testing of histological material in hot spots of genes BRAF, KRAS, NRAS, EIF1AX and TERT cant be used as an additional marker in low-risk well differentiated thyroid cancer patients to predict the course of the disease, although the lack of detection of aggressive genes of the disease may indicate a favorable prognosis in these patients.

scholarly journals Investigation of circulating DNA integrity after blood collection

BioTechniques ◽  
2021 ◽  
Author(s):  
Oriane Cédile ◽  
Sólja Remisdóttir Veyhe ◽  
Marcus Høy Hansen ◽  
Kjell Titlestad ◽  
Charlotte Guldborg Nyvold
Keyword(s):  
Blood Plasma ◽  
Quantitative Pcr ◽  
Blood Collection ◽  
Dna Integrity ◽  
Circulating Dna ◽  
In Blood Plasma

Method summary Concentrations of circulating DNA in blood plasma were compared using NanoDrop, Qubit, quantitative PCR and Bioanalyzer, and DNA integrity was evaluated with the Bioanalyzer according to the time of plasma preparation.

Mutant Form of BRAF Gene in Blood Plasma of Cancer Patients

2004 ◽  
Vol 1022 (1) ◽  
pp. 228-231 ◽  
Author(s):  
K K VDOVICHENKO ◽  
S I MARKOVA ◽  
A S BELOKHVOSTOV
Keyword(s):  
Blood Plasma ◽  
Cancer Patients ◽  
Mutant Form ◽  
Braf Gene ◽  
In Blood Plasma

CLINICAL CHARACTERISTICS OF COLORECTAL CANCER IN PATIENTS WITH EGFR-SIGNALING PATHWAY GENE MUTATIONS

2019 ◽  
pp. 60-67
Author(s):  
I.A. Bogomolova ◽  
I.I. Antoneeva ◽  
D.R. Dolgova
Keyword(s):  
Colorectal Cancer ◽  
Adjuvant Chemotherapy ◽  
Clinical Characteristics ◽  
Gene Mutations ◽  
Egfr Signaling ◽  
Braf Gene ◽  
Braf Mutations ◽  
Kras Gene ◽  
Egfr Signaling Pathway ◽  
Gene Exon

KRAS, NRAS, BRAF mutations are associated with an unfavorable prognosis for colorectal cancer (CRC). At the same time, there is no single point of view on disease development during adjuvant chemotherapy (ACT). Objective. The authors aimed at studying KRAS, NRAS and BRAF mutations in the tumor and their influence on the clinical characteristics of colorectal cancer development. Materials and Methods. Paraffin blocks of the primary CRC tumor (n=37) were used as the material for the study. Using genomic DNA, isolated from the primary tumor, real-time PCR was used to determine the most common mutations in CRC: KRAS gene (exon 2, codon region 12–13), NRAS gene (exon 3, codon region 61), B6F V600E gene. Results. The results of genotyping of DNA samples isolated from the primary CRC tumor paraffin blocks showed that BRAF gene mutations were detected in 8.2 % of cases, NRAS gene mutations were detected in 5.4 % of cases, and KRAS gene mutations were detected in 37.8 % of cases. The authors didn’t reveal any dependencies of the mutation distribution on patients’ gender and age. The examined mutations were more common in adenocarcinomas of high and moderate degrees of differentiation. The relapse-free period after ACT in patients with identified KRAS, NRAS, BRAF gene mutations is significantly less than in those without mutations. Conclusion. The findings suggest that EGFR signaling pathway mutations (KRAS, NRAS and BRAF) increase the risk of disease recurrence and are an unfavorable prognostic factor. Keywords: colorectal cancer, NRAS, KRAS, BRAF mutations, adjuvant chemotherapy.

Deoxyribonuclease Activity and Circulating DNA Concentration in Blood Plasma of Patients with Prostate Tumors

2008 ◽  
Vol 1137 (1) ◽  
pp. 218-221 ◽  
Author(s):  
Anna V. Cherepanova ◽  
Svetlana N. Tamkovich ◽  
Olga E. Bryzgunova ◽  
Valentin V. Vlassov ◽  
Pavel P. Laktionov
Keyword(s):  
Blood Plasma ◽  
Circulating Dna ◽  
Prostate Tumors ◽  
Dna Concentration ◽  
Deoxyribonuclease Activity ◽  
In Blood Plasma

scholarly journals Microfluidics for minute DNA sample analysis: open challenges for genetic testing of cell-free circulating DNA in blood plasma

2018 ◽  
Vol 1 ◽  
pp. 25-32 ◽  
Author(s):  
Rémi Malbec ◽  
Jean Cacheux ◽  
Pierre Cordelier ◽  
Thierry Leichlé ◽  
Pierre Joseph ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Blood Plasma ◽  
Circulating Dna ◽  
Sample Analysis ◽  
Free Circulating Dna ◽  
In Blood Plasma

scholarly journals Epigenetic modification and BRAF gene mutation in thyroid carcinoma

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Guo Huang ◽  
Juan Chen ◽  
Jun Zhou ◽  
Shuai Xiao ◽  
Weihong Zeng ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Gene Mutation ◽  
Noncoding Rna ◽  
Molecular Mechanisms ◽  
Epigenetic Modification ◽  
Gene Mutations ◽  
Braf Gene ◽  
Braf Mutations ◽  
Rna Regulation

AbstractThyroid cancer remains the most prevailing endocrine malignancy, and a progressively increasing incidence rate has been observed in recent years, with 95% of thyroid cancer represented by differentiated thyroid carcinomas. The genetics and epigenetics of thyroid cancer are gradually increasing, and gene mutations and methylation changes play an important roles in its occurrence and development. Although the role of RAS and BRAF mutations in thyroid cancer have been partially clarified,but the pathogenesis and molecular mechanisms of thyroid cancer remain to be elucidated. Epigenetic modification refer to genetic modification that does not change the DNA sequence of a gene but causes heritable phenotypic changes in its expression. Epigenetic modification mainly includes four aspects: DNA methylation, chromatin remodelling, noncoding RNA regulation, and histone modification. This article reviews the importance of thyroid cancer epigenetic modification and BRAF gene mutation in the treatment of thyroid cancer.

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