scholarly journals MOLECULAR-GENETIC CHARACTERISTICS OF PRIMARY TUMOR AND METASTATIC LYMPHATIC NODES IN BREAST CANCER

2019 ◽  
Keyword(s):  
Breast Cancer ◽  
Primary Tumor ◽  
Molecular Genetic ◽  
Genetic Characteristics

Clinical application of polymorphic variants of the genes ESR1 and CYP2D6*4 in patients with breast and endometrial cancer

2017 ◽  
pp. 132-138
Author(s):  
O.V. Paliychuk ◽  
◽  
L.Z. Polishchuk ◽  
Z.I. Rossokha ◽  
◽  
...  
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Hormone Therapy ◽  
Molecular Genetic ◽  
Cancer Syndrome ◽  
Genetic Characteristics ◽  
Multiple Tumors ◽  
Receptor Status ◽  
Genetic Examination ◽  
The Impact

The objective: determining gene polymorphism features ERS1, CYP2D6 in patients with breast cancer (RHZ) and endometrial cancer (EC) and the impact assessment studied genetic characteristics compared to receptor status (immunohistochemical determination of expression levels of ER, PR) tumors and the results of the treatment. Patients and methods. article presents the results of complex clinical, morphological, clinical-genealogical, and molecular-genetic examination of 28 females: 19 patients with breast cancer (BC), 9 patients with endometrial cancer (EC), including 5 patients with primary-multiple tumors (PMT) with and without tumor pathology aggregation in families. Results. The It was determined that in patients’ families malignant tumors of breast, uterine body and/or ovaries prevail that corresponds to Lynch type II syndrome (family cancer syndrome). Molecular-genetic examination of genomic DNA of peripheral blood and histological sections for the presence of SNPs of ESR and CYP2D6*4 genes comparing with the results of immunohistochemical study of tumors for receptors ER and PR status have not found associations between these characteristics; although among EC patients the occurrence of genotypes 397ТТ and 351АА was significantly higher comparing with BC patients (55.55% and 10.5% for genotype 397ТТ,and 15.8% for genotype 351АА, respectively). At the same time the patients with BC and primary-multiple tumors (PMT) of female reproductive system organs (FRSO) that carried mutations in BRCA1 in all the cases demonstrated positive ER and PR receptor status and adverse combinations of polymorphous variants of the genes ESR1 (397СС, 397ТС) and CYP2D6*4 (1846G, 1846GA), suggesting combined effect of these factors on the development of malignant neoplasias of FRSO in families with positive family cancer history. In BC patients, receiving standard hormone therapy with tamoxifen, those, who had genotype 1846GG of the gene CYP2D6*4, in 3 patients (15.8%) of 19 (100%) patients disease recurrence was diagnosed. Conclusion. The obtained results allow clinical use of the assessment of polymorphism frequency of the genes ESR1 and CYP2D6*4 for selection of individual hormone therapy regimens schemes for BC patients, to increase efficacy of dispensary observation after finishing of special therapy for such patients, and also personalization of complex and combined treatment regimens. Key words: breast cancer, endometrial cancer, family cancer syndrome, single nucleotide polymorphisms (SNPs) of the genes ESR1, CYP2D6*4.

scholarly journals Clinical, morphological, and molecular genetic predictors of metastatic lesions in the regional lymph nodes in breast cancer

2018 ◽  
Vol 5 (3) ◽  
pp. 8-16
Author(s):  
Yu. A. Dergunova ◽  
V. V. Podionov ◽  
V. K. Bozhenko ◽  
V. V. Kometova ◽  
M. V. Dardyk
Keyword(s):  
Breast Cancer ◽  
Lymph Node ◽  
Lymph Nodes ◽  
Molecular Genetic ◽  
Regional Lymph Nodes ◽  
Genetic Characteristics ◽  
Metastatic Lesions ◽  
Genetic Predictors ◽  
Node Metastases ◽  
High Degree

Despite the sufficient amount of data accumulated in the literature, there are still no factors, on the basis of which it would be possible to estimate the regional lymph nodes status in breast cancer with a high degree of accuracy. The review presents literature data relating to the influence of clinicopathological, molecular-biological and genetic characteristics of primary tumor on lymph node metastases. Data of 66 foreign and Russian articles are included.

scholarly journals Anaplastic thyroid cancer. Is there a light at the end of the tunnel?

2020 ◽  
Vol 10 (1) ◽  
pp. 10-19 ◽  
Author(s):  
A. L. Pylev ◽  
A. A. Zhandarova ◽  
K. S. Petrov ◽  
D. S. Romanov ◽  
V. A. Lisovoy ◽  
...  
Keyword(s):  
Radiation Therapy ◽  
Thyroid Cancer ◽  
Primary Tumor ◽  
Molecular Genetic ◽  
Poor Response ◽  
Anaplastic Thyroid Cancer ◽  
Thyroid Tumor ◽  
Surgical Removal ◽  
Genetic Characteristics ◽  
Treatment Methods

Anaplastic thyroid cancer is one of the most prognostically unfavorable tumors. This disadvantage traditionally consisted of a rapid increase in the size of the primary tumor with a tendency to the development of asphyxia and the rapid appearance of distant metastases, as well as a poor response to the recommended treatment methods. The result of many years of efforts by oncologists around the world were several treatment regimens, including an ideal amount of surgical intervention, chemotherapy and radiation therapy, but the effectiveness of this treatment, as well as the patient’s life expectancy after it, could not be called satisfactory. Improving the understanding of the molecular genetic characteristics of tumors, including anaplastic thyroid cancer, provided us with information on two possible features of the genetic apparatus of tumor cells that can have clinical significance: V600E mutations in the BRAF gene and fusion of NTRK genes. The clinical example described in this article is probably the first Russian illustration of the effectiveness of anti-BRAF therapy in a patient with anaplastic thyroid cancer. From our point of view, the benefit of this example is not only to demonstrate the effectiveness of modern targeted therapy, but also the need not to abandon other treatment methods, in this case, radiation therapy to the area of the primary tumor (and by analogy with this, surgical removal of the thyroid tumor glands in case of its resectability).

scholarly journals Immunological and molecular genetic characteristics of luminal B breast cancer: a literature review

2016 ◽  
Vol 12 (4) ◽  
pp. 32-36
Author(s):  
D. A. Ryabchikov ◽  
I. K. Vorotnikov ◽  
K. S. Titov ◽  
N. V. Chkhikvadze ◽  
A. V. Krasnorutskiy
Keyword(s):  
Breast Cancer ◽  
Literature Review ◽  
Molecular Genetic ◽  
Genetic Characteristics ◽  
Luminal B

scholarly journals Molecular genetic predictors of metastatic lesions of regional lymph nodes in patients with breast cancer

2021 ◽  
Vol 17 (3) ◽  
pp. 24-36
Author(s):  
V. V. Rodionov ◽  
O. V. Burmenskaya ◽  
V. V. Kometova ◽  
D. Yu. Trofimov ◽  
M. V. Rodionova ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Lymph Node ◽  
Lymph Nodes ◽  
Primary Tumor ◽  
Molecular Genetic ◽  
Tumor Location ◽  
Axillary Lymph ◽  
Regional Lymph Nodes ◽  
Genetic Predictors

Objective: to identify molecular genetic predictors of metastatic spread to regional lymph nodes in patients with breast cancer (BC) based on the analysis of gene expression profile of the primary tumor.Materials and methods. The study included 358 patients with BC who underwent surgical treatment in breast cancer department of Academician V.I. Kulakov Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia. Among all included into the study patients, 132 (36.9 %) had metastases in at least one axillary lymph node. Molecular genetic examination of the tumor tissue was carried out using reverse transcription polymerase chain reaction; the diagnostic panel consisted of 45 functional and 3 reference genes. Results. Patients with metastases to regional lymph nodes were generally younger (p = 0.006), had larger primary tumor (p<0.001) and higher total malignancy score (p<0.001). The groups were also significantly different in tumor location (p = 0.005). Comparative analysis of transcriptome tumor profiling revealed statistically significant differences between groups in the level of expression of three genes: TMEM45A (p = 0.016), CCND1 (p = 0.019), and MIA (p = 0.046). Based on the data obtained we used mathematical modeling and created a predictive model, which with a high degree of probability (AUC = 0.791) allowed to predict the presence of regional lymph nodes metastases in patients with BC.Conclusion. TMEM45A, CCND1 and MIA gene expression in the primary tumor were the markers of lymph node involvement in BC. The developed predictive genetic signature can become an additional diagnostic tool to predict the risk of lymph node metastases at the point of planning the volume of axillary surgery in patients with BC.

scholarly journals Some clinical morphological and molecular genetic aspects in patients with clinical signs of hereditary breast cancer

2018 ◽  
Vol 99 (2) ◽  
pp. 224-229
Author(s):  
Yu S Shatova ◽  
E A Chebotareva ◽  
E Yu Zlatnik ◽  
I A Novikova ◽  
D I Vodolazhskiy ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Hereditary Breast Cancer ◽  
Sporadic Breast Cancer ◽  
Molecular Genetic ◽  
Clinical Signs ◽  
Receptor Expression ◽  
Proliferation Index ◽  
Common Mutation ◽  
Aneuploid Cell ◽  
Genetic Characteristics

Aim. To study the clinical morphological and molecular genetic characteristics of clinically hereditary breast cancer with and without verified mutation of BRCA1, BRCA2 compared to sporadic breast cancer. Methods. The study included 191 female patients with verified breast cancer stage I-IIA and clinical signs of hereditary breast cancer. In order to identify mutations in genes ВRCA1/2 molecular genetic analysis of deoxyribonucleic acid from peripheral blood leukocytes was performed. Results. The total frequency of mutations in the genes BRCA1 and ВRCA2 amounted 14.1% of the total number of examined patients. The most common mutation in clinically hereditary breast cancer among residents of the Rostov Region was 5382insC in BRCA1 gene, which corresponds to the nationwide data. Also common features of hereditary breast cancer compared to sporadic breast cancer were identified: young age at the time of disease manifestation, high prevalence of triple-negative cancer, history of infertility, increased level of p53 and androgen receptor expression, decreased level of aneuploid cell and proliferation index in the tumor. Conclusion. In a number of clinical morphological and molecular genetic parameters, clinically hereditary breast cancer differs from sporadic breast cancer. These indicators in the future can be used as criteria for selection of patients with clinically hereditary breast cancer without confirmed BRCA1/2 mutation by standard panels for in-depth genetic testing.

Thickness of endometrium: predictor of the effectiveness of IVF/ICSI programs (literature review)

GYNECOLOGY ◽  
2018 ◽  
Vol 20 (1) ◽  
pp. 113-116
Author(s):  
L A Bagdasaryan ◽  
I E Korneyeva
Keyword(s):  
Assisted Reproductive Technologies ◽  
Endometrial Thickness ◽  
Molecular Genetic ◽  
Uterine Cavity ◽  
Reproductive Technologies ◽  
Genetic Characteristics ◽  
Vitro Fertilization ◽  
Need To Evaluate ◽  
The Relationship

The aim of the study is to systematically analyze the data available in the modern literature on the relationship between endometrial thickness and the frequency of pregnancy in the program of assisted reproductive technologies (ART). Materials and methods. The review includes data from foreign and domestic articles found in PubMed on this topic. Results. The article presents data on the relationship between the thickness of the endometrium and the frequency of pregnancy in ART programs. The greatest number of studies is devoted to the evaluation of the relationship between the thickness of the endometrium and the frequency of pregnancy on the day of the ovulation trigger. Data are presented on the existence of a correlation between the thickness of the endometrium measured on the day of the ovulation trigger and the frequency of clinical pregnancy, as well as data on the need to evaluate the structure of the endometrium and the state of subendometric blood flow. The importance of multilayered (three-layered) endometrium as a prognostic marker of success in in vitro fertilization/intracytoplasmic sperm injection programs in the ovum is emphasized. The conclusion. The thickness of the endometrium can not be used as an argument for canceling the cycle or abolishing embryo transfer to the uterine cavity. Further studies in this direction are needed with a study of the morphological and molecular genetic characteristics of the endometrium, which in the future will allow us to evaluate the relationship between the thickness of the endometrium and the probability of pregnancy.

NUMERICAL COEFFICIENT FOR ENDOMETRIAL CANCER INDIVIDUAL RISK EVALUATION IN POSTMENOPAUSAL WOMEN

2017 ◽  
Vol 63 (3) ◽  
pp. 461-465
Author(s):  
Lev Bershteyn ◽  
Dmitriy Vasilev ◽  
Tatyana Poroshina ◽  
Igor Berlev
Keyword(s):  
Breast Cancer ◽  
Endometrial Cancer ◽  
Risk Evaluation ◽  
Tumor Response ◽  
Molecular Genetic ◽  
Response To Treatment ◽  
Individual Risk ◽  
The Past ◽  
Genetic Landscape ◽  
Numerical Coefficient

Increased frequency of endometrial cancer (EC) since the beginning of this century exceeds that of breast cancer and to a large extent can be attributed to dynamics of parameters, which characterize hormonal and metabolic status of ill women and molecular genetic landscape of transforming endometrium. During the past few years there are suggested several options for a personalized assessment of the risk of EC. The aim of this article is to propose and justify own version of this score with the idea of its further not only retrospective but also prospective testing both in relation to the risk of developing endometrial cancer as well as an additional marker helping to predict tumor response to treatment.

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