scholarly journals Mitochondrial changes in carcinogenesis as a goal of antitumor therapy (review)

2020 ◽  
pp. 65-73
Author(s):  
T. E. Potemina ◽  
E. V. Guzikov
Keyword(s):  
Malignant Tumors ◽  
Gene Mutations ◽  
Cancer Development ◽  
Antitumor Therapy ◽  
Mutation Theory ◽  
Main Variant

Causes and mechanisms of cancer development are currently one of the urgent problems of medicine. The main variant for today is the mutation theory. Identification of the system of gene mutations, including in mitochondria, leading to this or that type of tumors, made it possible to develop a personalized, so-called targeting, the therapy of malignant tumors.

scholarly journals Frequent Occurrence of NRAS and BRAF Mutations in Human Acral Naevi

Cancers ◽  
2019 ◽  
Vol 11 (4) ◽  
pp. 546 ◽  
Author(s):  
Philipp Jansen ◽  
Ioana Cosgarea ◽  
Rajmohan Murali ◽  
Inga Möller ◽  
Antje Sucker ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Gene Mutations ◽  
Diagnostic Value ◽  
Clinicopathological Parameters ◽  
Braf Mutations ◽  
Acral Melanoma ◽  
Targeted Next Generation Sequencing ◽  
Melanocytic Tumors ◽  
Frequent Mutations ◽  
Melanoma Subtypes

Acral naevi are benign melanocytic tumors occurring at acral sites. Occasionally they can progress to become malignant tumors (melanomas). The genetics of acral naevi have not been assessed in larger studies. In our study, a large cohort of 130 acral naevi was screened for gene mutations known to be important in other naevi and melanoma subtypes by targeted next-generation sequencing. Mutation status was correlated with clinicopathological parameters. Frequent mutations in genes activating the MAP kinase pathway were identified, including n = 87 (67%) BRAF, n = 24 (18%) NRAS, and one (1%) MAP2K1 mutations. BRAF mutations were almost exclusively V600E (n = 86, 99%) and primarily found in junctional and compound naevi. NRAS mutations were either Q61K or Q61R and frequently identified in dermal naevi. Recurrent non-V600E BRAF, KIT, NF1, and TERT promoter mutations, present in acral melanoma, were not identified. Our study identifies BRAF and NRAS mutations as the primary pathogenic event in acral naevi, however, distributed differently to those in non-acral naevi. The mutational profile of acral naevi is distinct from acral melanoma, which may be of diagnostic value in distinguishing these entities.

scholarly journals Case report: Rare myeloid sarcoma development following renal transplantation with KRAS and DNMT3A gene mutations

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Danyang Wu ◽  
Xiaoxuan Lu ◽  
Xiaojing Yan ◽  
Ran Gao
Keyword(s):  
Bone Marrow ◽  
Renal Transplantation ◽  
Malignant Tumors ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Kaposi Sarcoma ◽  
Normal Karyotype ◽  
Marrow Transplant ◽  
Myeloid Sarcoma ◽  
Solid Organ

Abstract Background A high incidence of malignant tumors, such as post-transplant lymphoproliferative disorders (PTLD), Kaposi sarcoma, and renal cancer is common in solid organ and bone marrow transplant recipients. However, myeloid sarcoma (MS) after renal transplantation has rarely been reported and the diagnosis is challenging due to its low incidence. Case presentation Here, we report a rare case of a 49-year-old man who developed myeloid sarcoma (MS) in the transplanted kidney two years after renal transplantation. Next-generation sequencing (NGS) showed mutations of KRAS and DNMT3A genes in the MS, and no gene mutations in the bone marrow. He presented a normal karyotype of 46, XY. Following treatment with 6 cycles of systemic chemotherapy, the patient was in satisfactory condition with stable serum creatinine (sCr) levels at the 1-year follow-up. In addition, we performed a detailed review with emphasis on the clinical manifestations, and the diagnostic and therapeutic processes of another 7 patients who developed MS following renal transplantation. Conclusions Our report illustrates the clinical utility of comprehensive genomic profiling in benefiting the diagnosis of MS, the selection of therapeutic strategy and the determination of whether MS is donor-derived.

scholarly journals Involvement of the FAK Network in Pathologies Related to Altered Mechanotransduction

2020 ◽  
Vol 21 (24) ◽  
pp. 9426
Author(s):  
Enrica Urciuoli ◽  
Barbara Peruzzi
Keyword(s):  
Focal Adhesion ◽  
Gene Mutations ◽  
Living Cells ◽  
Cancer Development ◽  
Muscular Dystrophies ◽  
Matrix Stiffness ◽  
Essential Factor ◽  
Extracellular Matrix Stiffness ◽  
And Function ◽  
Biochemical Signals

Mechanotransduction is a physiological process in which external mechanical stimulations are perceived, interpreted, and translated by cells into biochemical signals. Mechanical stimulations exerted by extracellular matrix stiffness and cell–cell contacts are continuously applied to living cells, thus representing a key pivotal trigger for cell homeostasis, survival, and function, as well as an essential factor for proper organ development and metabolism. Indeed, a deregulation of the mechanotransduction process consequent to gene mutations or altered functions of proteins involved in perceiving cellular and extracellular mechanics can lead to a broad range of diseases, from muscular dystrophies and cardiomyopathies to cancer development and metastatization. Here, we recapitulate the involvement of focal adhesion kinase (FAK) in the cellular conditions deriving from altered mechanotransduction processes.

scholarly journals A Transposon-Based Analysis of Gene Mutations Related to Skin Cancer Development

2013 ◽  
Vol 133 (1) ◽  
pp. 239-248 ◽  
Author(s):  
Rita M. Quintana ◽  
Adam J. Dupuy ◽  
Ana Bravo ◽  
M Llanos Casanova ◽  
Josefa P. Alameda ◽  
...  
Keyword(s):  
Skin Cancer ◽  
Gene Mutations ◽  
Cancer Development

scholarly journals How Does Endometriosis Lead to Ovarian Cancer? The Molecular Mechanism of Endometriosis-Associated Ovarian Cancer Development

Cancers ◽  
2021 ◽  
Vol 13 (6) ◽  
pp. 1439
Author(s):  
Nozomi Yachida ◽  
Kosuke Yoshihara ◽  
Manako Yamaguchi ◽  
Kazuaki Suda ◽  
Ryo Tamura ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Molecular Mechanism ◽  
High Throughput Sequencing ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Cancer Development ◽  
Molecular Characteristics ◽  
Ovarian Endometriosis ◽  
Normal Endometrium ◽  
Uterine Endometrium

Numerous epidemiological and histopathological studies support the notion that clear cell and endometrioid carcinomas derive from ovarian endometriosis. Accordingly, these histologic types are referred to as “endometriosis-associated ovarian cancer” (EAOC). Although the uterine endometrium is also considered an origin of endometriosis, the molecular mechanism involved in transformation of the uterine endometrium to EAOC via ovarian endometriosis has not yet been clarified. Recent studies based on high-throughput sequencing technology have revealed that cancer-associated gene mutations frequently identified in EAOC may exist in the normal uterine endometrial epithelium and ovarian endometriotic epithelium. The continuum of genomic alterations from the uterine endometrium to endometriosis and EAOC has been described, though the significance of cancer-associated gene mutations in the uterine endometrium or endometriosis remains unclear. In this review, we summarize current knowledge regarding the molecular characteristics of the uterine endometrium, endometriosis, and EAOC and discuss the molecular mechanism of cancer development from the normal endometrium through endometriosis in an effort to prevent EAOC.

scholarly journals The future of transcatheter antitumor therapy

2009 ◽  
Vol 56 (4) ◽  
pp. 135-137
Author(s):  
D. Masulovic ◽  
M. Milicevic ◽  
R. Stevic ◽  
D. Sagic ◽  
Dj. Saranovic ◽  
...  
Keyword(s):  
Clinical Trials ◽  
Phase I ◽  
Malignant Tumors ◽  
Antitumor Drugs ◽  
Study Phase ◽  
Targeted Agents ◽  
Therapeutic Approaches ◽  
Antitumor Therapy ◽  
Preliminary Results ◽  
The Future

Transcatheter antitumor therapy very quickly accepted during the last decade and their importance in the treatment of oncology patients will be increasing. By improvement of new targeted agents, which can be given intraarterial or systemic, efficiency of transcatheteric therapeutic approaches can be drastically increased. Numerous clinical trials (study phase I / II / III) relating to the synergy of two antitumor therapeutic approaches are already in progress. Preliminary results of these trials are already very encouraging. Further improvement in the development of specific therapeutics antitumor drugs and systemic applications will be a big step in the quest for medication against malignant tumors.

scholarly journals p53 and EGFR gene mutations in malignant tumors of the lung

2021 ◽  
Vol 62 (4) ◽  
pp. 28-34
Author(s):  
S. Yermekova ◽  
M. Orazgaliyeva ◽  
T. Goncharova ◽  
F. Rakhimbekova ◽  
E. Serik
Keyword(s):  
Lung Cancer ◽  
Lung Tumor ◽  
Malignant Tumors ◽  
Molecular Genetic ◽  
Gene Mutations ◽  
P53 Gene ◽  
Diagnostic Value ◽  
Cancer Diagnostics ◽  
Egfr Mutations ◽  
Exon 19

Relevance: Increased incidence of lung cancer globally and in Kazakhstan, lack of screening in hereditary cases, high mortality, and low survival of patients necessitate the study of the molecular genetic causes of the disease. At present, gene mutation studies for lung cancer diagnostics are expanding. However, many gene mutations revealed remain undercovered in the scientific literature, and there is not enough data on their prognostic and diagnostic value. The purpose of the study was to discover the specifics of the р53 gene mutations and reveal the EGFR exon 19 deletions and exon 21 L858R mutations in malignant tumors of the lung of various histogenesis. Methods: The mutations were studied in tumors (200 samples) and adjacent tissue (200 samples) of patients with lung cancer (squamous cell carcinoma (SCC) and adenocarcinoma (ADC) of the lung) by polymerase chain reaction (PCR), electrophoresis, and EcoR1- and Pst1-restriction of samples after p53 gene fragments and cDNA amplification and mRNA revertase treatment. Another 263 lung cancer samples were evaluated by real-time PCR for EGFR exon 19 deletions and EGFR exon 21 L858R mutations. Results: The p53 gene was not expressed in 50% of SCC and adenocarcinoma of the lung samples. Restriction revealed p53 mRNA mutations in 100% of SCC and 75% of ADC samples. p53 exon-intron 5-6 was mutated in 50% of ADC and 70% of SCC samples, exon-intron 7-9 – in 60% of SCC cases. EGFR exons 19 and 21 mutations found in 65 of 263 lung tumor samples were associated with increased sensitivity to EGFR tyrosine kinase inhibitors. Conclusion: The p53 gene mutations revealed in most samples of SCC and ADC of the lung could be used to diagnose lung cancer and predict its severity. The identified EGFR mutations allow predicting the effectiveness of targeted therapy

scholarly journals Glutathione Peroxidase 3 (GPX3) Expression Predicts the Prognosis of Numerous Malignant Tumors: A Pan-Cancer Analysis

2021 ◽  
Author(s):  
Yuetong Wang ◽  
Guotao Fu ◽  
Xueqin Chen ◽  
Zengrun Xia ◽  
Meng Qi ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Gene Mutations ◽  
Enrichment Analysis ◽  
General Term ◽  
Ampk Signaling ◽  
Kaplan Meier ◽  
The Impact ◽  
Mannose Metabolism ◽  
Pan Cancer

Abstract Background: Malignant tumor is a general term for uncontrollable growth of cells. Several studies have investigated that role of GPX3 in tumors. However, no pan-cancer analysis has be conducted to assess the diagnostic and prognostic potential of GPX3. Methods: GPX3 mRNA and protein expression profile was analyzed in the TCGA+GTEx database and CPTAC database. Kaplan-Meier survival curves and forest plots were constructed to help evaluate the impact of GPX3 on the survival and prognosis of cancer patients. Gene mutations of GPX3 were analyzed based on TMB/MSI. The correlation between GPX3 and tumor immune infiltration was assessed using TIMER2. Enrichment analysis was performed to determine tumor-related signaling pathways associated with GPX3. A prediction model for STAD was established. Results: GPX3 was downregulated in most malignant tumors, and was significantly associated with the survival and prognosis of malignant tumors, such as STAD, PAAD, COAD, etc. Moreover, GPX3 expression was positively correlated and negatively with MSI in 13 and 20 categories of tumor respectively after GPX3 expression was positively correlated and negatively with TMB in 9 and 24 tumors separately (P<0.05). A positive correlation was found between GPX3 and the infiltration level of major immune cells and Cancer-associated fibroblasts (P<0.05). The effects of GPX3 were mediated by the AMPK signaling pathway, fructose and mannose metabolism. Conclusions: This is a novel pan-cancer analysis on the relationship between GPX3 and human tumors. Findings of this research will deepen our understanding on the role of GPX3 in the development, regulation and prognosis of malignant tumors.

scholarly journals Environmental Factors and Terminal Cancer Development- Review Article

2020 ◽  
Vol 5 (7) ◽  
pp. 1173-1180
Author(s):  
Urmil Shingala
Keyword(s):  
Risk Factors ◽  
Environmental Factors ◽  
Malignant Tumors ◽  
Developed Countries ◽  
Cancer Development ◽  
Individual Factors ◽  
Medical Studies ◽  
Excessive Alcohol Consumption ◽  
Excessive Alcohol ◽  
Molecular Aberrations

The cancerous method is a result of disturbed cell performance. This can be due to excess genetic and epigenetic changes inside the cell, expressed within the accumulation of body or molecular aberrations, that results in genetic instability. It's tough to assess the validity of individual factors which can cause a diseased condition; however, it can be suggested that interaction of various risk factors has the biggest contribution to cancer development and metastasis. Environmental and individual factors, together with genetic makeup contribute to the development of cancer. Medical research on malignant tumors has focused on the effects of environmental and genetic factors on cancer cases occurring and death rate. According to the information available, 80–90% of malignant tumors are a result of external environmental factors i.e. Carcinogens. Medical studies have indicated that the most factors leading to metastasis of cancer among humans are due to environmental factors which develop due to human activities. The studies show that smoking, excessive alcohol consumption and diet play an important role in metastasis of preexisting tumors. According to WHO, there might be ten million deaths by the end of 2020, out of which 7–8 million will be in developing countries and 2–3 million in developed countries. The aim of this study was to accumulate knowledge regarding the risk factors leading to metastasis of tumor and providing them with the most recent results.

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