Abstract:
:Acute leukemias (ALs) are often associated with chromosomal translocations, in particular, KMT2A/MLL gene rearrangements. Identification or confirmation of these translocations is carried out by a number of genetic and molecular methods, some of which are routinely used in clinical practice, while others are primarily used for research purposes. In the clinic, these methods serve to clarify diagnoses and monitor the course of disease and therapy. On the other hand, the identification of new translocations and the confirmation of known translocations are of key importance in the study of disease mechanisms and further molecular classification. There are multiple methods for the detection of rearrangements that differ in their principle of operation, the type of problem being solved, and the cost-result ratio. This review is intended to help researchers and clinicians studying AL and related chromosomal translocations to navigate this variety of methods. All methods considered in the review are grouped by their principle of action and include karyotyping, fluorescence in situ hybridization (FISH) with probes for whole chromosomes or individual loci, PCR and reverse transcription-based methods, and high-throughput sequencing. Another characteristic of the described methods is the type of problem being solved. This can be the discovery of new rearrangements, the determination of unknown partner genes participating in the rearrangement, or the confirmation of the proposed rearrangement between the two genes. We consider the specifics of the application, the basic principle of each method, and its pros and cons. To illustrate the application, examples of studying the rearrangements of the KMT2A/MLL gene, one of the genes that are often rearranged in AL, are mentioned.
journal_name
Crit Rev Clin Lab Scijournal_title
Critical reviews in clinical laboratory sciencesauthors
Lomov N,Zerkalenkova E,Lebedeva S,Viushkov V,Rubtsov MAdoi
10.1080/10408363.2020.1844135subject
Has Abstractpub_date
2020-11-18 00:00:00pages
1-27eissn
1040-8363issn
1549-781Xpub_type
杂志文章abstract::Bartter's and Gitelman's syndromes can be used as models to gain insight into the mechanisms responsible for maintaining/controlling vascular tone. In fact, the study of patients with these syndromes provides important insights into mechanistic details of the most relevant pathways of vascular tone. So far, several ex...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360091174295
更新日期:2000-12-01 00:00:00
abstract::This manuscript offers a broad overview of the state of emergency toxicology testing in clinical laboratories. We summarize the specific challenges of performing emergency toxicology testing, introduce a variety of currently used methods including mass spectrometry, and compare and contrast the utility of different ty...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2019.1585415
更新日期:2019-06-01 00:00:00
abstract::Fourier transform mid-infrared (MIR-FTIR) spectroscopy is a nondestructive, label-free, highly sensitive and specific technique that provides complete information on the chemical composition of biological samples. The technique both can offer fundamental structural information and serve as a quantitative analysis tool...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2017.1414142
更新日期:2018-01-01 00:00:00
abstract::There have been numerous reports of spectrophotometric and volume problems caused by elevated levels of lipids in blood. The offending lipids, primarily triglycerides, not only cause turbidity leading to optical aberrations when added to analytical reagents, but also result in short-sampling errors leading to the meas...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368709105876
更新日期:1987-01-01 00:00:00
abstract::Hereditary hemochromatosis (HH) comprises a group of inherited disorders of iron metabolism that can result in progressive iron overload, morbidity, and mortality, generally in adulthood. HFE-related HH is the most common type of HH and will form the core of this discussion. The discovery of new proteins and gene muta...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360802335716
更新日期:2008-01-01 00:00:00
abstract::Hypophosphatasia is a rare inherited disorder in which the activity of the bone/liver/kidney or tissue nonspecific form of alkaline phosphatase (ALP) is reduced. The clinical expression of the disease is highly variable, but in early life the severity tends to reflect the age of onset. Accordingly, the disease is ofte...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408369109106862
更新日期:1991-01-01 00:00:00
abstract::Urinary nucleosides offer a number of useful laboratory and clinical applications in the study and analysis of leukemia. There are significant differences in the excretion of modified nucleosides between normal individuals and individuals with various forms of leukemia, as well as between leukemia patients at opposite...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368609111597
更新日期:1986-01-01 00:00:00
abstract::Gas-liquid chromatography (GLC) continues to find increasing applications in the characterization of microorganisms and the diseases associated with them. GLC has been used to characterize microorganisms through qualitative and quantitative analyses of cellular structural components and soluble extracts and metabolic ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368109106453
更新日期:1981-01-01 00:00:00
abstract::Squamous carcinomas of the head and neck provide a useful model for analyzing patterns and mechanisms of tumor-associated bone destruction. Morphological studies show that a major part of the invasive process is mediated by local osteoclasts which erode bone in front of the advancing tumor. Functional studies indicate...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368509165845
更新日期:1985-01-01 00:00:00
abstract::Sepsis is an unusual systemic reaction to what is sometimes an otherwise ordinary infection, and it probably represents a pattern of response by the immune system to injury. A hyper-inflammatory response is followed by an immunosuppressive phase during which multiple organ dysfunction is present and the patient is sus...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2013.764490
更新日期:2013-01-01 00:00:00
abstract::There have been numerous publications on the coagulopathy of cardiopulmonary bypass (CPB). This review provides an introduction to the history and main components of current CPB circuits and summarizes the current knowledge of pathogenesis, prevention, and treatment of the CPB coagulopathy. It encompasses an overview ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2010.549291
更新日期:2010-12-01 00:00:00
abstract::The discovery of a G protein-coupled, calcium-sensing receptor (CaR) a decade ago and of diseases caused by CaR mutations provided unquestionable evidence of the CaR's critical role in the maintenance of systemic calcium homeostasis. On the cell membrane of the chief cells of the parathyroid glands, the CaR "senses" t...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360590886606
更新日期:2005-01-01 00:00:00
abstract::von Willebrand factor (VWF) is a multimeric plasma protein that mediates platelet adhesion as well as platelet aggregation at sites of vascular injury and acts as a carrier of factor VIII. Although acquired or inherited VWF deficiency is associated with a bleeding tendency, there is increasing evidence that VWF has a ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360600966753
更新日期:2007-01-01 00:00:00
abstract::The deoxyuridine suppression (dU) test, first described in 1964, has gained an important place both in the diagnosis of megaloblastic anemias and in the study of vitamin B12 folate interrelationships in the pathogenesis of megaloblastic anemia. The test measures the integrity of the de novo synthetic pathway of DNA sy...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368409165775
更新日期:1984-01-01 00:00:00
abstract::The CK-BB isoenzyme is ubiquitous in neoplastic tissue, but with low activity. Accordingly, it might be a nonspecific and insensitive tumor marker. Evaluation of BB isoenzyme in serum might indicate the extent of diseases or the response to therapy. The presence of CK-MB in patients with cancers may cause confusion wi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368609165795
更新日期:1986-01-01 00:00:00
abstract::Complement is a humoral effector system composed of 21 plasma proteins that was identified initially because of its cytolytic effects. In addition to cytolysis, complement has a number of different functions related to inflammatory and other host defense processes. The description of the reaction mechanism includes: (...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368609110272
更新日期:1986-01-01 00:00:00
abstract::Urine drug testing is one of the objective tools available to assess adherence. To monitor adherence, quantitative urinary results can assist in differentiating "new" drug use from "previous" (historical) drug use. "Spikes" in urinary concentration can assist in identifying patterns of drug use. Coupled chromatographi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章
doi:10.1080/10408363.2020.1774493
更新日期:2020-12-01 00:00:00
abstract::Resveratrol and its naturally dimethylated analog, pterostilbene, show similar biological activities. However, the higher in vivo bioavailability of pterostilbene represents a fundamental advantage. The main focus of this review is on biomedical applications of pterostilbene. The metabolism and pharmacokinetics of thi...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2013.805182
更新日期:2013-05-01 00:00:00
abstract::Muscle wasting in patients with sepsis, severe injury, and cancer is associated with increased transcription of several genes regulating different proteolytic pathways. The involvement of gene activation in muscle wasting suggests that transcription factors and nuclear cofactors play important roles in the regulation ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章
doi:10.3109/10408363.2011.591365
更新日期:2011-03-01 00:00:00
abstract::Antiphospholipid antibodies (aPL) constitute a heterogeneous group of autoantibodies that share the ability to bind phospholipids (PL) alone, protein-PL complexes, or PL-binding proteins. They have been detected in isolation, in association with autoimmune diseases such as systemic lupus erythematosus (SLE), and durin...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360601079549
更新日期:2007-01-01 00:00:00
abstract::Infection with hepatitis delta virus (HDV), a satellite virus of hepatitis B virus (HBV), is associated with severe and sometimes fulminant hepatitis. The traditional methods for the diagnosis of HDV infection, such as detection of serum anti-HD antibodies, are sufficient for the clinical diagnosis of delta infection....
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408360091174178
更新日期:2000-02-01 00:00:00
abstract::The kallikrein-related peptidases (KLKs) represent the largest family of serine proteases within the human genome and are expressed in various tissues. Although they regulate several important physiological functions, KLKs have also been implicated in numerous pathophysiological processes, including cancer. Growing ev...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2016.1154643
更新日期:2016-08-01 00:00:00
abstract::Alpha fetoprotein (AFP) is the major protein of fetal serum and most resembles albumen, which replaces it shortly after birth. It is produced by fetal liver and passes into the amniotic fluid (AF) via fetal urine. A small amount crosses the membranes into the maternal circulation. Excluding fetal blood contamination, ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368109105870
更新日期:1981-01-01 00:00:00
abstract::Despite great progress in prevention strategies, pharmacotherapy and interventional treatment of coronary artery disease (CAD), cardiovascular events still constitute the leading cause of mortality and morbidity in the modern world. Traditional risk factors, including hypertension, diabetes mellitus, smoking, obesity,...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2014.913549
更新日期:2014-10-01 00:00:00
abstract::Most clinical chemical analytes vary in a random manner around a homeostatic set point. Replicate analyses of a series of specimens collected from a group of subjects allows estimation of analytical, within and between subject components of variation. The preferred experimental procedures and statistical methods for e...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368909106595
更新日期:1989-01-01 00:00:00
abstract::Isoelectric focusing (IEF) as a method for differentiating macromolecules with minor differences in isoelectric points has demonstrated an increase in the degree of genetic polymorphisms of the blood. Studies over the last 5 to 6 years have shown that genetic marker systems such as transferrin (TF), phosphoglucomutase...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408368409165772
更新日期:1984-01-01 00:00:00
abstract::The presence of circulating tumor cells (CTCs) in peripheral blood can serve as a "liquid biopsy" approach and has thus emerged lately as one of the hottest fields in cancer research. CTCs can be isolated from blood in a non-invasive approach, and can be used to follow patients over time since these cells can provide ...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2014.896316
更新日期:2014-06-01 00:00:00
abstract::Programmed death receptor-1 (PD-1) and its ligand, PD-L1, as negative co-stimulatory molecules, are indispensable for regulating both physiological and pathological immune responses. The PD-1/PD-L1-mediated signaling pathway has been studied extensively in cancer research and has become a hotspot for biopharmaceutical...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408363.2018.1522292
更新日期:2019-01-01 00:00:00
abstract::The aim of this review is to summarize present evidence of an association between circulating levels of C-reactive protein (CRP) and cancer risk, and to evaluate whether elevated circulating CRP levels cause cancer. Additionally, the review provides background information on the acute-phase response, chronic inflammat...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.3109/10408363.2011.599831
更新日期:2011-07-01 00:00:00
abstract::Leptin is a 16-kDa cytokine secreted in humans primarily but not exclusively by adipose tissues. Its concentration in blood is usually proportional to body fat mass, but is higher in women than in men not only because of a different distribution of and greater fat mass in women, but also because testosterone reduces i...
journal_title:Critical reviews in clinical laboratory sciences
pub_type: 杂志文章,评审
doi:10.1080/10408369991239259
更新日期:1999-12-01 00:00:00