Mimobuněcna DNA (cf-DNA) detekovana v seru periferni krve se v
posledni době stava vhodným minimalně invazivnim diagnostickým
nastrojem pro diagnostiku a monitorovani cele řady malignich
onemocněni [1,2] vcetně mnohocetneho myelomu (MM) [3]. MM je
maligni onemocněni plazmatických buněk (PB). l přes výrazne
pokroky v lecbě dochazi u větsiny pacientů k relapsu
onemocněni. Sledovani minimalni residualni choroby (MRD)
umožňuje identifikovat pacienty, kteři jsou v riziku relapsu
[4]. Zlatým standardem pro detekci MRD u MM je flowcytometricka
analýza buněk kostni dřeně (KD) a metodiky založene na PCR, kdy
se stanovuje nadorový marker - specificka přestavba těžkeho
řetězce imunoglobulinu (IGH). Cilem nasi studie bylo stanoveni
MRD u pacientů s MM s využitim detekce serových cf-DNA
nesoucich nadorově specifický marker stanovený v době diagnozy
z PB KD. Metodami real-time PCR a droplet-digitalni PCR byio
celkem analyzovano 61 vzorků sera z doby diagnozy a různých
casových bodů lecby pro přitomnost nadorově specificke cf-DNA
Ziskane výsledky naznacuji potencial využiti detekce nadorově
specificke cf-DNA u pacientů s MM pro monitorovani onemocněni.
Avsak potencialni výhody a prediktivni hodnotu cf-DNA je nutne
ověřit na větsim souboru pacientů.
Cell-free DNA (cf-DNA) detected in serum of peripheral blood has recently become a suitable minimally invasive diagnostic tool for diagnosis and monitoring of a variety of malignant diseases including multiple myeloma (MM). MM is a malignant disease of plasma cells (PB). Despite significant advances in treatment, majority of patients relapse. Monitoring of minimal residual disease (MRD) allows identification of patients who are at risk of relapse. The golden standard for detection of MRD in MM is flow cytometric analysis of bone marrow cells (BM) and PCR-based methodology of a tumor marker - specific rearrangement of the immunoglobulin heavy chain (IGH). The aim of our study was to assess MRD in MM patients by detecting serum cf-DNA carrying a tumor-specific marker that was analyzed at the time of diagnosis of PB in BM. Using real-time PCR and droplet-digital PCR, we analyzed 61 serum samples obtained at the time of diagnosis and at various time point of treatment. Our results indicate the potential use of detection of cf-DNA in MM patients for disease monitoring. However, potential benefits and predictive value of cf-DNA need to be verified on a larger cohort of patients.
Although tumor cells are the most reliable source of tumor DNA, biopsy of the tumor is an invasive procedure that should be avoided in some cases. The main limitation of any biopsy is sampling of one tumor site, which may not represent all malignant clones due to the heterogeneity of the tumor. These clones respond to treatment differently and thus directly influence survival of the patient. Circulating cell-free DNA (cfDNA) is released from multiple tumor sites, reflects overall heterogeneity of the tumor, and correlates with its progression. Detection of tumor-specific genetic and epigenetic aberrations in cfDNA could have a direct impact on molecular diagnosis, prognosis, follow-up of disease, monitoring of minimal residual disease, and response to treatment. While most cfDNA data are still experimental, they are very promising. This review focuses on cfDNA in hematological malignancies.
SouhrnVolná cirkulující DNA (cf-DNA) je charakterizována jako extracelulární DNA, která může být přítomna v nízkých koncentracích v krvi zdravých jedinců.Cf-DNA je do krevního řečiště uvolňována apoptózou, ale i nekrózou.Zvýšené hladiny se vyskytují u patologických stavů, jako je zánět, stres či autoimunitní onemocnění.Výrazně zvýšené hodnoty cf-DNA jsou patrné zejména u pacientů s malignitami, a to především v pokročilých stadiích nemoci.V takovémto případě je nádorově specifi cká cf-DNA uvolňována nekrózou z buněk primárního nádoru a metastáz.V poslední době se hodně studií zabývá tzv.liquid bio psy (tekutou bio psií), která umožňuje poměrně snadnou detekci cirkulujících nádorových buněk i cirkulujících molekul nukleových kyselin z periferní krve k diagnostice nádorových onemocnění.Kvantitativní stanovení a detekce genetických a epigenetických změn v cf-DNA u pacientů s různými malignitami má potenciální využití v molekulární diagnostice, prognóze, monitorování průběhu nemoci a odpovědi na léčbu.Tento článek je zaměřen na potenciální využití cf-DNA jako krevního bio
In this study, we aimed to identify microRNA from urine of multiple myeloma patients that could serve as a biomarker for the disease. Analysis of urine samples was performed using Serum/Plasma Focus PCR MicroRNA Panel (Exiqon) and verified using individual TaqMan miRNA assays for qPCR. We found 20 deregulated microRNA (p < 0.05); for further validation, we chose 8 of them. Nevertheless, only differences in expression levels of miR-22-3p remained close to statistical significance. Our preliminary results did not confirm urine microRNA as a potential biomarker for multiple myeloma.
Long non-coding RNAs (lncRNAs) are RNA transcripts longer than 200 nucleotides that are not translated into proteins. They are involved in pathogenesis of many diseases including cancer and have a potential to serve as diagnostic and prognostic markers. We aimed to investigate lncRNA expression profiles in bone marrow plasma cells (BMPCs) of newly diagnosed multiple myeloma (MM) patients in comparison to normal BMPCs of healthy donors (HD) in a three-phase biomarker study.Expression profile of 83 lncRNA was performed by RT2 lncRNA PCR Array (Qiagen), followed by quantitative real-time PCR using specific TaqMan non-coding RNA assays analyzing 84 newly diagnosed MM patients and 25 HD.Our analysis revealed dysregulation of two lncRNAs; NEAT1 (sensitivity of 55.0% and specificity of 79.0%) and UCA1 (sensitivity of 85.0% and specificity of 94.7%). UCA1 levels correlated with albumin and monoclonal immunoglobulin serum levels, cytogenetic aberrations, and survival of MM patients.Our study suggests a possible prognostic impact of UCA1 expression levels on MM patients.
Reduced-intensity conditioning allogeneic transplantation after salvage treatment with DT -PACE in myeloma patients relapsing early after autologous transplant Prognostic relevance of oxidative stress measurement in chronic lymphocytic leukaemiaThe prognostic value of a trend in modified SOFA score for patients with hematological malignancies in the intensive care unit Differential expression of homologous recombination DNA repair genes in the early and advanced stages of myelodysplastic syndrome Direct acting oral anticoagulants for the treatment of suspected heparin-induced thrombocytopenia Outcomes of allogeneic stem cell transplantation in patients with paroxysmal nocturnal hemoglobinuria with or without aplastic anemia Validation of an algorithm identifying incident primary immune thrombocytopenia in the French national health insurance database Persisting hyperbilirubinemia in patients with paroxysmal nocturnal hemoglobinuria ( PNH ) chronically treated with eculizumab: The role of hepatocanalicular transporter variants Bone marrow harvest from unrelated donors-up-to-date methodology Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis Thrombopoietin receptor agonist switch in adult primary immune thrombocytopenia patients: A retrospective collaborative survey involving 4 Spanish centres
Nejcastěji izolovaným druhem kvasinek z klinickeho materialu je Candida albicans. V poslednich letech dochazi k narůstu infekci způsobených tzv. non-albicans druhy. V 90. letech minuleho stoleti byly popsany druhy C. dubliniensis a C. africana, ktere jsou svými fenotypovými vlastnostmi velmi podobne C. albicans. Mimo jine se lisi některými biochemickými znaky. Toho se využiva k jejich diferenciaci. Kandidy maji rozdilnou schopnost asimilovat různe druhy cukrů jako jediný zdroj uhliku. Každa z kvasinek ma tedy svůj charakteristický asimilacni profil. Cilem teto prace bylo srovnani biochemických profilů druhů C. albicans, C. dubliniensis a C. africana ziskaných z klinickeho materialu v laboratořich Mikrobiologickeho ustavu LF MU a FN u sv. Anny v Brně. Dale pak ziskane výsledky porovnat s literaturou. Hodnoceno bylo celkem 55 kmenů C. albicans, 43 kmenů C. dubliniensis a 4 kmeny C. africana. Pomoci asimilacni metody bylo zjistěno, že některe zkoumane kmeny neměly charakteristický asimilacni profil daneho druhu. Pouze 73 % kmenů C. albicans, 51 % kmenů C. dubliniensis a 50 % kmenů C. africana byly schopny utilizovat pro ně charakteristicke cukry. Prace je cleněna na cast teoretickou, ktera je zaměřena na obecne vlastnosti rodu Candida a jednotlive druhy C. albicans, C. dubliniensis a C. africana a cast praktickou obsahujici vlastni experiment.
Cell-free DNA (cf-DNA) detected in serum of peripheral blood
has recently become a suitable minimally invasive diagnostic
tool for diagnosis and monitoring of a variety of malignant
diseases including multiple myeloma (MM). MM is a malignant
disease of plasma cells (PB). Despite significant advances in
treatment, majority of patients relapse. Monitoring of minimal
residual disease (MRD) allows identification of patients who
are at risk of relapse. The golden standard for detection of
MRD in MM is flow cytometric analysis of bone marrow cells (BM)
and PCR-based methodology of a tumor marker - specific
rearrangement of the immunoglobulin heavy chain (IGH). The aim
of our study was to assess MRD in MM patients by detecting
serum cf-DNA carrying a tumor-specific marker that was analyzed
at the time of diagnosis of PB in BM. Using real-time PCR and
droplet-digital PCR, we analyzed 61 serum samples obtained at
the time of diagnosis and at various time point of treatment.
Our results indicate the potential use of detection of cf-DNA
in MM patients for disease monitoring. However, potential
benefits and predictive value of cf-DNA need to be verified on
a larger cohort of patients.
'%3e%3cpath fill='%23012169' d='M0 0v30h60V0z'/%3e%3cpath stroke='%23fff' stroke-width='6' d='m0 0 60 30m0-30L0 30'/%3e%3cpath stroke='%23C8102E' stroke-width='4' d='m0 0 60 30m0-30L0 30' clip-path='url(%23b)'/%3e%3cpath stroke='%23fff' stroke-width='10' d='M30 0v30M0 15h60'/%3e%3cpath stroke='%23C8102E' stroke-width='6' d='M30 0v30M0 15h60'/%3e%3c/g%3e%3c/svg%3e)
