Gene sequencing of 16S, 18S, and ITS regions is a crucial tool in molecular diagnostics, especially in microbiology, pathology and forensic medicine. These genes contain conserved and variable regions and are widely used for the taxonomic classification of bacteria and eukaryotes. Sequencing of 16S rDNA helps detect bacterial infections, while sequencing of ITS regions and 18S rDNA is used to identify fungal or parasitic infections, especially when traditional methods are ineffective. This article focuses on the expanded possibilities of these methods, their application in clinical diagnostics and research, their advantages and disadvantages, and discusses potential future developments in the field of next-generation sequencing (NGS) technology.
- Klíčová slova
- 16S sequencing, 18S sequencing, ITS region sequencing, Infection diagnostics, Molecular pathology, Next-generation sequencing, next generation sequencing,
- MeSH
- lidé MeSH
- RNA ribozomální 16S * genetika MeSH
- RNA ribozomální 18S genetika MeSH
- sekvenční analýza DNA MeSH
- vysoce účinné nukleotidové sekvenování MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- RNA ribozomální 16S * MeSH
- RNA ribozomální 18S MeSH
Using molecular methods, infectious organisms of viral, bacterial and fungal origin, as well as protozoa and helminths, can be detected. Molecular methods detect specific segments in the nucleic acid sequences of infectious agents and therefore do not require the maintenance of viability of the microorganisms of interest. Therefore, these methods can also be used for direct detection of infectious agents from fixed tissue, the most commonly available material in pathology. This short review article is based on more than 20 years of molecular microbiology within pathology and our aim is to present the possibilities of molecular detection of infectious organisms for pathological diagnosis.
- Klíčová slova
- FFPE, Microbiome, PCR, infectious agents, microbiome, molecular methods, pathology,
- MeSH
- diagnostické techniky molekulární * metody MeSH
- lidé MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: HER2-positive breast cancer occurs in about 15-20 % of all breast cancers. It is both a prognostic and predictive biomarker and the introduction of anti-HER2 therapy over the last 20 years has significantly improved outcomes in this subset of patients, so that they are now comparable to or better than those of patients with HER2-negative tumors. Approximately 5-10% of patients are diagnosed with metastatic breast cancer. It was good news for these patients when, on April 17, 2020, the FDA approved tucatinib in combination with trastuzumab and capecitabine for adult patients with advanced unresectable or metastatic HER2-positive breast cancer who had received one or more prior anti-HER2-based regimens in the metastatic setting. The efficacy of the regimen was demonstrated in the HER2CLIMB trial, which enrolled 612 patients with HER2-positive metastatic breast cancer who had previously been treated with trastuzumab, pertuzumab, and/or trastuzumab emtansine. Median overall survival for patients in the tucatinib arm was 21.9 months (95% CI 18.3-31.0) compared with 17.4 months (95% CI 13.6-19.9) for patients in the control arm (HR 0.66; 95% CI 0.50-0.87; P = 0.00480). CASE: Our patient is a middle-aged woman without visceral metastatic involvement, but with extensive nodal involvement, skeletal metastatic involvement and left breast almost completely consumed by tumor. This woman had a more or less successful three lines of anti-HER2 therapy and the fourth line of one-year-long systemic treatment with the cytostatic eribulin. The inclusion of tucatinib with trastuzumab and capecitabine in the fifth line of systemic therapy achieved a very nice partial regression of the primary tumor without significant toxicity. CONCLUSION: In this case report, we describe the case of a highly pretreated patient with HER-2 positive metastatic breast cancer.
- Klíčová slova
- HER2 positivity, breast cancer, highly pretreated patient, palliative biotherapy,
- MeSH
- chinazoliny terapeutické užití MeSH
- furany terapeutické užití MeSH
- ketony terapeutické užití MeSH
- lidé MeSH
- nádory prsu * farmakoterapie patologie MeSH
- oxazoly MeSH
- paliativní péče * MeSH
- polyetherové polyketidy MeSH
- protokoly protinádorové kombinované chemoterapie terapeutické užití MeSH
- pyridiny terapeutické užití MeSH
- receptor erbB-2 * metabolismus MeSH
- trastuzumab terapeutické užití MeSH
- Check Tag
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- chinazoliny MeSH
- ERBB2 protein, human MeSH Prohlížeč
- eribulin MeSH Prohlížeč
- furany MeSH
- ketony MeSH
- oxazoly MeSH
- polyetherové polyketidy MeSH
- pyridiny MeSH
- receptor erbB-2 * MeSH
- trastuzumab MeSH
- tucatinib MeSH Prohlížeč
BACKGROUND: Solitary hepatocellular carcinoma (HCC) with a diameter of 3-5 cm represents a challenging clinical entity, especially for non-surgical candidates due to comorbidities. CASE: A 74-year-old man with previous history of renal cell carcinoma presented with a new incidental solitary 5 cm liver lesion on MRI. Due to his age and a high risk for post-surgical complications, after multidisciplinary tumor board review the treatment plan consisted of percutaneous thermal segmentectomy using balloon-occluded microwave ablation (b-MWA) followed by balloon-occluded transarterial chemoembolization (b-TACE) with complete tumor necrosis, as evident in subsequent follow-up imaging. This case demonstrates that b-MWA plus b-TACE could be a safe and effective combined therapy for unresectable large HCC lesions, even for those exceeding 3 cm in size. CONCLUSION: Although the presented case is anecdotal and naturally without comparisons or control, it highlights the potential value of percutaneous thermal segmentectomy with a single session combined b-MWA followed by b-TACE for the treatment of large unresectable solitary HCC lesions.
- Klíčová slova
- balloon occluded chemoembolization, balloon occluded thermal ablation, case report, hepatocellular carcinoma,
- MeSH
- balónková okluze metody MeSH
- chemoembolizace * metody MeSH
- hepatocelulární karcinom * terapie MeSH
- kombinovaná terapie MeSH
- lidé MeSH
- mikrovlny * terapeutické užití MeSH
- nádory jater * terapie chirurgie MeSH
- senioři MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: Eye tumors are moving targets, but there have been no reports of radiation therapy with real-time monitoring. CASE: A 54-year-old woman with metastatic breast cancer was referred for treatment of diplopia due to choroidal metastasis after hippocampal avoiding whole brain radiotherapy. Since visual acuity was preserved and long-term survival was expected, real-time MRI-guided intensity-modulated radiation therapy (36 Gy in 20 fractions) was performed. No adverse events occurred during treatment or during the subsequent one-year follow-up period. The patient's diplopia resolved and no choroidal recurrence was observed during the follow-up period. CONCLUSION: MRI-guided radiation therapy may be a safe and effective treatment for choroidal metastases after hippocampal avoiding whole brain radiotherapy.
- Klíčová slova
- choroidal tumor, image guided radiotherapy, image-guided radiotherapy, intensity-modulated radiation therapy, retinal neoplasms,
- MeSH
- hipokampus * patologie diagnostické zobrazování účinky záření MeSH
- lidé středního věku MeSH
- lidé MeSH
- magnetická rezonanční tomografie MeSH
- nádory choroidey * radioterapie sekundární diagnostické zobrazování MeSH
- nádory mozku sekundární radioterapie diagnostické zobrazování MeSH
- nádory prsu * radioterapie patologie MeSH
- radioterapie řízená obrazem * MeSH
- radioterapie s modulovanou intenzitou škodlivé účinky MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
BACKGROUND: The unfolded protein response (UPR) enables myeloma cells to overcome the stress conditions arising from excessive proteosynthesis and thus provides a survival advantage for myeloma cells. Extramedullary disease is a more aggressive form of multiple myeloma in which myeloma cells lose their dependence on the bone marrow microenvironment and are able to infiltrate other tissues and organs. The pathogenesis of extramedullary disease is not fully elucidated yet. The aim of this study was to determine whether there is a difference in the expression of UPR-related genes between bone marrow plasma cells from multiple myeloma and extramedullary disease patients. MATERIALS AND METHODS: Gene expression of six genes involved in UPR (ERN1, DDIT3, EIF2AK3, TUSC3, XBP1, HSPA5) was analyzed by quantitative reverse transcription polymerase chain reaction. In total, 76 bone marrow plasma cell samples were used, of which 44 were from patients with multiple myeloma and 32 from patients with extramedullary disease. RESULTS: A statistically significant difference was observed between the multiple myeloma and extramedullary disease groups regarding the expression of HSPA5, DDIT3, EIF2AK3, and ERN1 genes. However, in the case of XBP1 and TUSC3 genes, no statistically significant difference in the expression was found. Several statistically significant correlations between the expression levels of the analyzed genes and the clinical data of the patients were observed as well. CONCLUSION: Our results suggest the importance of UPR in the pathogenesis of extramedullary disease. UPR appears to be a promising avenue for further research.
- Klíčová slova
- Kahler-Pick law, Multiple myeloma, Plasma cells, extramedullary disease, unfolded protein response,
- MeSH
- chaperon endoplazmatického retikula BiP * MeSH
- endoribonukleasy MeSH
- kinasa eIF-2 MeSH
- lidé MeSH
- mnohočetný myelom * genetika patologie MeSH
- plazmatické buňky metabolismus patologie MeSH
- protein-serin-threoninkinasy genetika MeSH
- signální dráha UPR * MeSH
- transkripční faktor CHOP genetika MeSH
- XBP1 genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- chaperon endoplazmatického retikula BiP * MeSH
- DDIT3 protein, human MeSH Prohlížeč
- EIF2AK3 protein, human MeSH Prohlížeč
- endoribonukleasy MeSH
- ERN1 protein, human MeSH Prohlížeč
- HSPA5 protein, human MeSH Prohlížeč
- kinasa eIF-2 MeSH
- protein-serin-threoninkinasy MeSH
- transkripční faktor CHOP MeSH
- XBP1 protein, human MeSH Prohlížeč
- XBP1 MeSH
BACKGROUND: The search for effective biomarkers for ovarian cancer (OC) early diagnosis is an urgent task of modern oncogynecology. Metabolic profiling by ultra-high performance liquid chromatography and mass spectrometry (UHPLC-MS) provides information on the totality of all low molecular weight metabolites of patient's biological fluids sample, reflecting the processes occurring in the body. The aim of the study was to research blood plasma and urine metabolomic profile of patients with serous ovarian adenocarcinoma by UHPLC-MS. MATERIAL AND METHODS: To perform metabolomic analysis, 60 blood plasma samples and 60 urine samples of patients diagnosed with serous ovarian carcinoma and 20 samples of apparently healthy volunteers were taken. Chromatographic separation was performed on a Vanquish Flex UHPLC System chromatograph (Thermo Scientific, Germany). Mass spectrometric analysis was performed on an Orbitrap Exploris 480 (Thermo Scientific, Germany) equipped with an electrospray ionization source. Bioinformatic analysis was performed using Compound Discoverer Software (Thermo Fisher Scientific, USA), statistical data analysis was performed in the Python programming language using the SciPy library. RESULTS: Using UHPLC-MS, 1,049 metabolites of various classes were identified in blood plasma. In patients with OC, 8 metabolites had a significantly lower concentration (P < 0.01) compared with conditionally healthy donors, while the content of 19 compounds, on the contrary, increased (P < 0.01). During the metabolomic profiling of urine samples, 417 metabolites were identified: 12 compounds had a significantly lower concentration compared to apparently healthy individuals, the content of 14 compounds increased (P < 0.01). In patients with ovary serous adenocarcinoma, a significant change in the metabolome of blood plasma and urine was found, expressed in abnormal concentrations of lipids and their derivatives, fatty acids and their derivatives, acylcarnitines, phospholipids, amino acids and their derivatives, derivatives of nitrogenous bases and steroids. At the same time, kynurenine, myristic acid, lysophosphatidylcholine and L-octanoylcarnitine are the most promising markers of this disease. CONCLUSION: The revealed changes in the metabolome can become the basis for improving approaches to the diagnosis of serous ovarian adenocarcinoma.
- Klíčová slova
- Urine, blood plasma, metabolomic profile, serous ovarian adenocarcinoma, ultra-high performance liquid chromatography and mass spectrometry, urine,
- MeSH
- hmotnostní spektrometrie MeSH
- lidé středního věku MeSH
- lidé MeSH
- metabolom MeSH
- metabolomika * metody MeSH
- nádorové biomarkery krev moč MeSH
- nádory vaječníků * metabolismus krev moč diagnóza MeSH
- serózní cystadenokarcinom metabolismus diagnóza krev moč MeSH
- vysokoúčinná kapalinová chromatografie MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- nádorové biomarkery MeSH
BACKGROUND: Space still exists in the management of patients with colorectal cancer (CRC) for improving risk stratification and thus the precision of treatment tailoring. Quite promising in this regard are biomarkers acquired via liquid biopsy, which is a non-invasive method of body fluid draw, most commonly peripheral blood. A variety of biomarkers associated with the tumor are analyzed, which can have either prognostic or predictive value. Circulating tumor DNA (ctDNA) is one of the most explored tumor biomarkers. Initially, its utility spectrum was only in advanced or metastatic cancers and consisted of molecular profiling and detecting acquired resistance to treatment. Nowadays, the use of circulating tumor DNA has shifted to earlier cancer stages, where it can identify minimal residual disease or diagnose colorectal cancer early. Existing studies show promising potential of these biomarkers, but more information needs to be gathered and information from ongoing studies needs to be obtained in order to use them in everyday practice. AIM: In this review article, we will discuss ctDNA, its aspects, diag- nostic possibilities and current use in CRC.
- Klíčová slova
- Circulating tumor DNA, Prognosis, colorectal cancer, heart failure, minimal residual disease, surveillance,
- MeSH
- cirkulující nádorová DNA * krev genetika MeSH
- kolorektální nádory * genetika krev diagnóza MeSH
- lidé MeSH
- nádorové biomarkery * krev genetika MeSH
- prognóza MeSH
- tekutá biopsie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- cirkulující nádorová DNA * MeSH
- nádorové biomarkery * MeSH
BACKGROUND: The patient's quality of life is an integral part of the evaluation of anticancer treatment. We can meet its evaluation mainly within the framework of clinical studies and research projects, but it is increasingly included in routine clinical practice as well. In radiotherapy, this indicator needs to be evaluated especially with the advent of new fractionation regimes, which are supposed to ensure better clinical results, but also the same or better quality of life for patients compared to another fractionation scheme. There are several ways to measurably evaluate the quality of life. Questionnaires filled in by patients are most often used, so this is a subjective approach. It is essential to choose the right methodology, especially the type and form of questionnaires with regard to the specific situation (diagnosis, treatment, etc.). AIM: In this educational review article, quality of life and its role in the treatment of a patient with radiotherapy are defined. Next, selected methods of quality of life assessment in radiotherapy are described in detail. Emphasis is placed especially on available questionnaire surveys, generic or specific. Among the most commonly used quality of life questionnaires are those from the EORTC group, FACIT questionnaires and the EQ-5D, SF-36, WHOQOL-100 and WHOQOL-BREF questionnaires. The general EORTC QLQ-C30 questionnaire, which is also often used in radiotherapy, is used to demonstrate the assessment on one specific example of a questionnaire completed by a patient. CONCLUSION: The quality of life of an oncology patient ranks among the most important evaluations of care outcomes (patient reported outcomes measures), and data collection for its evaluation should be part of routine clinical practice in radiation oncology as well, especially when introducing a new fractionation regimen. The purpose of this educational review article is to point out the various possibilities for evaluating the quality of life, different types of generic and specific questionnaires, and also to emphasize certain recommendations and procedures necessary for quality evaluation of questionnaires.
- Klíčová slova
- Quality of life, oncology, quality of life, radiotherapy,
- MeSH
- kvalita života * MeSH
- lidé MeSH
- nádory * radioterapie psychologie MeSH
- průzkumy a dotazníky MeSH
- radioterapie MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
BACKGROUND: In terms of epidemiology, colorectal carcinoma (CRC) represents one of the most prevalent tumors worldwide. Progress in research has translated into reduced mortality of the disease, but the trend of early onset CRC troubles most of the developed countries. Identification and validation of effective prognostic biomarkers are crucial for improving diagnostic accuracy and treatment outcomes. PURPOSE: The objective of the work is to analyze the latest data on the epidemiology and risk factors of CRC. A narrative review also aims to summarize current knowledge about various prognostic biomarkers in the treatment of CRC, including indicators of performance status, nutritional, and inflammatory markers. CONCLUSION: CRC pose major health problem in most of the countries and the tumor biomarkers as well as patients pre-treatment condition are crucial to establish prognosis of the disease. Nutritional and performance status indicators play an essential role in assessing the patient's condition and influence treatment decisions, with a potential impact on treatment outcomes. Inflammatory markers have demonstrated significant prognostic value, correlating with the patient's immune response to the tumor and inflammatory processes that may promote disease progression. Despite promising predictive capabilities, these biomarkers are not yet routinely used in clinical practice due to the need for further research validation. The integration of new biomarkers into clinical practice could lead to more personalized treatment decisions and improved treatment outcomes. For a more comprehensive assessment of the validity of these biomarkers and their application in regular clinical practice, further research is necessary.
- Klíčová slova
- Epidemiology, TNM classification, colorectal carcinoma, doppler ultrasound of uterine artery, inflammation, malnutrition, mortality, nutrition, protooncogenes –inflammation, risk factors,
- MeSH
- kolorektální nádory * diagnóza epidemiologie MeSH
- lidé MeSH
- nádorové biomarkery * MeSH
- prognóza MeSH
- rizikové faktory MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
- Názvy látek
- nádorové biomarkery * MeSH