Genomic testing in healthcare: a hybrid space where clinical practice and research need to co-exist.
Authors: Horton R, Lucassen A Abstract Introduction: Clinical practice and research are traditionally seen as distinct activities that are governed by different principles and processes. Innovative technologies such as genomic testing challenge this model, involving many activities that cannot be easily categorized as purely research, or purely clinical care. Areas covered: We discuss the interdependence of research and clinical practice in the context of genomics, for example, when determining the significance of rare genetic variants, or diagnosing newly described rare diseases. We highlight the potential of the ...
Source: Expert Review of Molecular Diagnostics - October 13, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Circulating exosomal miRNAs: clinical significance in human cancers.
Authors: Avgeris M, Panoutsopoulou K, Papadimitriou MA, Scorilas A Abstract Introduction: The identification of novel non-invasive biomarkers to ameliorate early-diagnosis, and disease prognosis, as well as to support personalized treatment and monitoring decisions is of first clinical priority for cancer patients' care. Exosomes are natural endosome-derived extracellular vesicles that have emerged as crucial mediators of intercellular communication and tumor progression. Considering that deregulated miRNA levels have been described in numerous human malignancies and that tumor-derived exosomes reflect miRNA expres...
Source: Expert Review of Molecular Diagnostics - October 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Clinical utility of emerging biomarkers in prostate cancer liquid biopsies.
Authors: Boerrigter E, Groen LN, van Erp NP, Verhaegh GW, Schalken JA Abstract Introduction Prostate cancer (PCa) is one of the most common malignancies in men and a major cause of cancer deaths among men worldwide. Prostate specific antigen (PSA) monitoring and histopathological examination of tumor biopsies remain gold standards in PCa diagnostics. These clinical parameters are not well suited for patient stratification, predicting and monitoring treatment response. On the other hand, liquid biopsies offer a unique opportunity to easily isolate tumor-derived material for longitudinal clinical assessment. Areas co...
Source: Expert Review of Molecular Diagnostics - October 3, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Current omics-based biomarkers for cholangiocarcinoma.
Authors: Intuyod K, Armartmuntree N, Jusakul A, Sakonsinsiri C, Thanan R, Pinlaor S Abstract Introduction: Cholangiocarcinoma (CCA) is a malignancy of the biliary tract. CCA generally has a low incidence worldwide but incidence is typically high in Southeast Asian countries, particularly in northeastern Thailand, where small liver-fluke (Opisthorchis viverrini) infection is endemic. CCA has a poor prognosis as most CCA patients present with advanced stages. Poor prognosis and worse outcomes are due to the lack of specific and early-stage CCA biomarkers. Areas covered: In this review, we discuss the use of CCA tissu...
Source: Expert Review of Molecular Diagnostics - October 2, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

An Update on the Use and Discovery of Prognostic Biomarkers in Acute Decompensated Heart Failure.
This article reviews the pathophysiology and utility of both established and emerging biomarkers for the prognostication of patients with ADHF. Expert Opinion: As of 2019, the most validated biomarkers for use in decompensated heart failure include natriuretic peptides, high sensitivity troponin, and sST2. These biomarkers are involved in the underlying pathophysiology of disease and as such provide added information to that of exam, x-ray, and echocardiography. PMID: 31539485 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 22, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Generating timely molecular diagnostic test results: workflow comparison of the cobas ® 6800/8800 to Panther.
Conclusions: Both systems provided a high level of automation. The cobas 6800 platform had shorter start up, time to first result, time to last result and hands-on times than the Panther system. PMID: 31526152 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 20, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Role of anti-DNA auto-antibodies as biomarkers of response to treatment in systemic lupus erythematosus patients: hypes and hopes. Insights and implications from a comprehensive review of the literature.
Authors: Bragazzi NL, Watad A, Damiani G, Adawi M, Amital H, Shoenfeld Y Abstract Introduction: Due to the polymorphic clinical presentations and manifestations of systemic lupus erythematosus (SLE), biomarkers with enough diagnostic and prognostic value are of paramount importance. Recently, anti-double stranded DNA (anti-dsDNA) auto-antibodies have been proposed to monitor the response to different therapies. It has also been suggested that they should be employed as entry markers in trial studies. However, their clinical use remains still debated and, sometimes, controversial, due to conflicting findings reporte...
Source: Expert Review of Molecular Diagnostics - September 14, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Liquid biopsies in urological cancers: what we need to know before starting using them.
Authors: Franceschini T, Giunchi F, Montironi R, Scarpelli M, Lopez-Beltran A, Cheng L, Fiorentino M PMID: 31509027 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 13, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The Cellular Prion Protein and its derived Fragments in Human Prion Diseases and their Role as potential Biomarkers.
Authors: Thüne K, Schmitz M, Villar-Piqué A, Altmeppen HC, Schlomm M, Zafar S, Glatzel M, Llorens F, Zerr I Abstract Introduction: Human prion diseases are a heterogeneous group of incurable and debilitating conditions characterized by a progressive degeneration of the central nervous system. The conformational changes of the cellular prion protein and its formation into an abnormal isoform, spongiform degeneration, neuronal loss and neuroinflammation are central to prion disease pathogenesis. It has been postulated that truncated variants of aggregation-prone proteins are implicated in neurodegenerativ...
Source: Expert Review of Molecular Diagnostics - September 13, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

How can biomarkers assist the prognosis of urologic malignancies?
Authors: Falzarano SM, Feely MM PMID: 31495243 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The current status of molecular biomarkers in patients with metastatic urothelial carcinoma of the bladder.
Authors: Kerr PS, Freedland SJ, Williams SB PMID: 31495246 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The use of qPCR in human Chagas disease: a systematic review.
This study has given an overview of assays using qPCR in human Chagas disease and has shown the relevance of this technique in diagnosis. PMID: 31496309 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Available and emerging molecular markers in the clinical management of breast cancer.
Authors: Giridhar KV, Liu MC Abstract Introduction: Biomarker assessment is fundamental to managing patients with invasive breast cancer. While the assessment of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor 2 is mandatory for all invasive breast tumors, recent advances in our understanding of tumor biology have uncovered a growing list of clinically relevant biomarkers. Areas covered: In early stage breast cancer, we focus on dynamic changes in Ki-67 during neoadjuvant endocrine therapy and multigene prognostic assays to guide adjuvant chemotherapy decisions. In advanced brea...
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Molecular characterization and diagnostic criteria of renal cell carcinoma with emphasis on liquid biopsies.
Authors: Cimadamore A, Massari F, Santoni M, Mollica V, Di Nunno V, Cheng L, Lopez-Beltran A, Scarpelli M, Montironi R, Moch H Abstract Introduction: The current WHO classification of renal cell carcinoma (RCC) is based on the 2013 International Society of Urological Pathology (ISUP) Vancouver Classification of Renal Neoplasia. Over the past 6 years, important genomic and transcriptomic studies performed on RCC reported a comprehensive molecular description of RCC pathogenic alterations. Such molecular findings pave the way for an integrated classification, based on histopathology aspects and molecular alterations ...
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

How else can we approach prostate cancer biomarker discovery?
Authors: Drake RR, Angel PM, Wu J, Pachynski RK, Ippolito JE PMID: 31498690 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Non-coding RNAs as biomarkers in liquid biopsies with a special emphasis on extracellular vesicles in urological malignancies.
Authors: Zeuschner P, Linxweiler J, Junker K Abstract Introduction: Non-coding RNAs (ncRNAs) are important regulators of cellular signaling in tumor-related processes. They can not only be detected in tumor tissues, but also in body fluids. ncRNAs are released into circulation as cell-free RNAs in at least two ways: bound to proteins like Ago2 or packed in extracellular vesicles (EV). Therefore, they have a great potential to serve as biomarkers in liquid biopsies. This review gives an overview of the current knowledge concerning ncRNAs and EVs as putative liquid biomarkers in urological tumor diseases. Areas cover...
Source: Expert Review of Molecular Diagnostics - September 10, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The current status of the clinical utility of liquid biopsies in cancer.
The objective of this review is to highlight the status of liquid biopsies in solid tumors in the oncology literature with attention to proven utility as diagnostic surrogates for macrometastases. Expert Opinion: Carefully designed clinical-translational studies are needed to establish the diagnostic accuracy and clinical utility of liquid biopsy biomarkers in oncology. Investigators must fully consider relevant pre-analytical variables, assay sensitivity, bioinformatics considerations as well as the clinical utility of rare event profiling in the context of the normal blood background. Future liquid biopsy research should...
Source: Expert Review of Molecular Diagnostics - September 7, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

System accuracy assessments with a blood glucose meter with combined glucose and ß-hydroxybutyrate measurement capabilities.
Conclusions: When tested according to the ISO15197:2015 guideline, the device showed very accurate measurement performance for glucose and ß-OHB testing and fully met regulatory accuracy approval criteria. PMID: 31482753 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - September 7, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Profile of MeltPro ® HPV test for human papillomavirus genotyping and pre-cervical cancer screening.
Profile of MeltPro® HPV test for human papillomavirus genotyping and pre-cervical cancer screening. Expert Rev Mol Diagn. 2019 Aug 29;: Authors: Liao Y, Li Q Abstract Introduction: Human papillomavirus (HPV) is the most common viral infection of the reproductive tract. The persistent infection of high-risk HPV (hrHPV) is associated with cervical cancer. There exists a trend from no hrHPV genotyping, to partial and expanded hrHPV genotyping for the primary screening of cervical precancer. Areas covered: The authors first review HPV assays for screening use on the market. Then they describe and compa...
Source: Expert Review of Molecular Diagnostics - August 31, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Circulating biomarkers predictive of tumor response to cancer immunotherapy.
Authors: Lee EY, Kulkarni RP Abstract Introduction: The advent of checkpoint blockade immunotherapy has revolutionized cancer treatment. Over seven immunotherapy drugs have already been FDA approved with multiple indications, and countless more are being investigated in ongoing clinical trials. However, clinical response to immunotherapies is highly heterogeneous among individual patients and between cancer types. This represents a challenge to oncologists when choosing specific immunotherapies for personalized medicine. As a result, the abilities to predict tumor responsiveness to immunotherapies before initiation...
Source: Expert Review of Molecular Diagnostics - August 31, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Advancing cancer diagnostics with artificial intelligence and spectroscopy: identifying chemical changes associated with breast cancer.
CONCLUSION: It is envisaged that a combination of RS with AI and ML may create a precise and accurate real-time methodology for cancer diagnosis and monitoring. PMID: 31461624 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - August 30, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Diagnosis of bacterial sepsis: why are tests for bacteremia not sufficient?
Authors: Sweeney TE, Liesenfeld O, May L PMID: 31446810 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - August 28, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Current and future molecular diagnostics of gastric cancer.
Authors: Choi RS, Lai WYX, Lee LTC, Wong WLC, Pei XM, Tsang HF, Leung JJ, Cho WCS, Chu MKM, Wong EYL, Wong SCC Abstract Introduction: Gastric cancer (GC) is the fifth most common cancer and confers the second highest mortality among other cancers. Improving the survival rates of GC patients require prompt and accurate diagnosis and effective treatment which is often preceded by the poorly- understood pathogenic mechanisms. Area covered: This literature review aims to summarize current understanding of genetic and molecular alterations that promote carcinogenesis including 1) activation of oncogenes, 2) overexpressi...
Source: Expert Review of Molecular Diagnostics - August 28, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The applications of Big Data in molecular diagnostics.
Authors: Wong YKE, Lam KW, Ho KY, Yu CSA, Cho CSW, Tsang HF, Chu MKM, Ng PWL, Tai CSW, Chan WCL, Wong EYL, Wong SCC Abstract Introduction: Big Data technologies instilled an informational perspective to our understanding of the world. However, fundamental issues such as the management and storage of data can create privacy concerns. Heterogeneous types of data pose challenges in reproducibility and standardization. It is now an opportunity for us to help the healthcare professionals, educators, and policy-makers understand the impact of Big Data, and steer the development roadmap to positively impact the molecular ...
Source: Expert Review of Molecular Diagnostics - August 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Emerging urine-based proteomic biomarkers as valuable tools in the management of chronic kidney disease.
Authors: Zürbig P, Siwy J, Mischak H PMID: 31423855 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - August 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

One future of clinical metagenomic sequencing for infectious diseases.
Authors: Shean RC, Greninger AL PMID: 31426667 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - August 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Clinical implications of extracellular vesicles in neurodegenerative diseases.
Authors: Vinaiphat A, Sze SK Abstract Introduction: Extracellular vesicles (EVs) released by neural cells play a crucial role in intracellular communication in both physiological and pathological states. Recent studies have shown that the neuropathogenic manifestation of many progressive nervous system diseases including Parkinson's disease (PD), Alzheimer's diseases (AD), and amyotrophic lateral sclerosis (ALS). These diseases are frequently found to be associated with the accumulation of misfolded proteins, exploit EVs for the spread of aggregates to naive cells in a prion-like mechanism. Therefore, characterizat...
Source: Expert Review of Molecular Diagnostics - August 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Detection of BRCA 1/2 large genomic rearrangements in breast and ovarian cancer patients: an overview on the current methods.
Authors: Concolino P, Capoluongo E Abstract Introduction: Currently, genetic testing of BRCA1/2 genes includes screening for single nucleotide variants, small insertions/deletions and for copy number variations (CNVs). In fact, many studies document the involvement of BRCA1/2 gene rearrangements in genetic predisposition to breast and ovarian cancer. Large genomic rearrangements (LGRs) of BRCA1 may account for up to one-third of all disease-causing alterations in various populations, while LGRs in BRCA2 are less frequently observed. Areas covered: We aimed to present an overview on current technologies employed in ...
Source: Expert Review of Molecular Diagnostics - August 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Brief molecular diagnostic criteria for human cytomegalovirus infection/disease.
Authors: Gerna G, Baldanti F PMID: 31418603 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - August 18, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The applications of metabolomics in the molecular diagnostics of cancer.
Authors: Cheung PK, Ma MH, Tse HF, Yeung KF, Tsang HF, Chu MKM, Kan CM, Cho WCS, Ng LBW, Chan LWC, Wong SCC Abstract Introduction: Metabolomics, the study of metabolites, is a promising research field for cancers. The metabolic pathway in a tumor cell is different from a normal tissue cell. There are two approaches to study the metabolism, targeted and untargeted. The general approach is that metabolomic data are interpreted by bioinformatics tools correlating with metabolomic databases to obtain significant findings. With the use of specific analysis tools, such as nuclear magnetic resonance (NMR) and mass spectro...
Source: Expert Review of Molecular Diagnostics - August 17, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

ID CORE XT as a tool for molecular red blood cell typing.
Authors: Bub CB, Castilho L Abstract Classic methods to determine human red blood cell (RBC) antigens are based on serologic testing, however, there are some limitations. Several molecular techniques have been developed to bypass these restrictions and to detect the most important allelic variants, the last of great value for the approach in the personalized medicine, especially for patients in chronic transfusion regime. The ID CORE XT (Progenika Biopharma-Grifols, Bizkaia, Spain) is one of the commercial DNA-based techniques available to genotyping of RBC antigens. It is a platform based on Luminex technology wit...
Source: Expert Review of Molecular Diagnostics - August 16, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Molecular characterisation of emerging pathogens of unexplained infectious disease syndromes.
Authors: Li X, Lau SKP, Woo PCY Abstract Introduction: The discoveries of HIV and Helicobacter pylori in the 1980s were landmarks in identification of novel pathogens causing unexplained infectious syndromes using conventional microbiological technologies. In the last few decades, advancement of molecular technologies has provided us with more robust tools to expand our armamentarium in this microbial hunting process. Areas covered: In this article, we give a brief overview of the most important molecular technologies we use for identification of emerging microbes associated with unexplained infectious syndromes, i...
Source: Expert Review of Molecular Diagnostics - August 8, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Advances in technologies for cervical cancer detection in low-resource settings.
Authors: Kundrod KA, Smith CA, Hunt B, Schwarz RA, Schmeler K, Richards-Kortum R Abstract Introduction: Cervical cancer mortality rates remain high in low- and middle-income countries (LMICs) and other medically underserved areas due to challenges with implementation and sustainability of routine screening, accurate diagnosis, and early treatment of preinvasive lesions. Areas covered: In this review, we first discuss the standard of care for cervical cancer screening and diagnosis in high- and low-resource settings, biomarkers that correlate to cervical precancer and cancer, and needs for new tests. We review techn...
Source: Expert Review of Molecular Diagnostics - August 3, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Emerging proteomic biomarkers of X-linked muscular dystrophy.
Authors: Dowling P, Murphy S, Zweyer M, Raucamp M, Swandulla D, Ohlendieck K Abstract Introduction: Progressive skeletal muscle wasting is the manifesting symptom of Duchenne muscular dystrophy, an X-linked inherited disorder triggered by primary abnormalities in the DMD gene. The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired metabolism and abnormalities in the central nervous system. Areas covered: This review focuses on the mass spectrometry-based proteomic characteriz...
Source: Expert Review of Molecular Diagnostics - August 1, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

A clinical role for F örster resonance energy transfer in molecular diagnostics of disease.
A clinical role for Förster resonance energy transfer in molecular diagnostics of disease. Expert Rev Mol Diagn. 2019 Jul 29;: Authors: Qiu X, Hildebrandt N PMID: 31353969 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - July 31, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Hypervirulence and carbapenem resistance: two distinct evolutionary directions that led high-risk Klebsiella pneumoniae clones to epidemic success.
Authors: Lai YC, Lu MC, Hsueh PR Abstract Introduction: Over the past few decades, Klebsiella pneumoniae has become a significant threat to public health and is now listed as an ESKAPE pathogen. Evolving with versatile capabilities, K. pneumoniae is a population composed of genetically and phenotypically diverse bacteria. However, epidemic K. pneumoniae are restricted to specific clonal lineages. The clonal group CG23 comprises hypervirulent K. pneumoniae displaying limited resistance to antimicrobials and is frequently associated with the community-acquired invasive syndrome. On the other hand, CG258 is another cl...
Source: Expert Review of Molecular Diagnostics - July 27, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Coll2-1 and Coll2-1NO2 as exemplars of collagen extracellular matrix turnover - biomarkers to assist the treatment of osteoarthritis?
Authors: Mobasheri A, Lambert C, Henrotin Y Abstract Introduction: Osteoarthritis (OA) is the most common form of arthritis. However, there are no structure or disease-modifying treatments for OA drugs (DMOADs). Introducing personalized healthcare to patients and healthcare practitioners is a high priority for the management of arthritic and musculoskeletal diseases. However, there are no biomarker tools that can be used for patient stratification, disease management and drug development. Biomarkers are capable of diagnosing and prognosing some arthritic and musculoskeletal diseases. Cartilage-based biomarkers have...
Source: Expert Review of Molecular Diagnostics - July 24, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Detection of carbapenemase-producing Enterobacterales and the BD Phoenix CPO Detect panel.
Authors: Simon M, Koestler J, Reischl U, Gessner A, Jantsch J Abstract Introduction: Treatment options for infections with carbapenem-resistant Enterobacterales are strongly limited. New antimicrobials are not effective against all types of carbapenemases. Therefore, rapid and reliable antimicrobial susceptibility testing and identification of the resistance mechanism are important. Areas covered: We assess several methods to determine carbapenemase production of Enterobacterales in culture and discuss the value of the novel automated BD Phoenix CPO Detect (BDPCPO) panel for the detection and classification of carb...
Source: Expert Review of Molecular Diagnostics - July 19, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

How MALDI-TOF mass spectrometry can aid the diagnosis of hard-to-identify pathogenic bacteria, the rare and the unknown.
We describe how this has improved the diagnostics in different groups of bacteria. Reference patterns for strains which yet cannot be assigned to a known species even enable the search for related bacteria in studies as well as in routine diagnostics. MALDI-TOF MS can help to discover and investigate new species and their clinical relevance. It is a powerful tool in elucidation of the bacterial composition of complex microbiota in culturomics studies. Expert opinion: MALDI-TOF MS has improved the diagnosis of bacterial infections. It also enables knowledge generation for prospective diagnostics. The term "hard-to-iden...
Source: Expert Review of Molecular Diagnostics - July 17, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The potential of monitoring treatment response in non-small cell lung cancer using circulating tumour cells.
Authors: Gallo M, De Luca A, Frezzetti D, Passaro V, Maiello MR, Normanno N Abstract Introduction: Circulating tumor cell (CTC) counts represent an attractive strategy for monitoring response to therapy in patients with advanced non-small cell lung cancer (NSCLC). Changes in the CTCs number during the treatment have been proposed as a predictive biomarker of response to both chemotherapy and targeted therapies. Profiling of CTCs might also allow the assessment of the dynamics of predictive biomarkers such as EGFR, ALK, ROS1, and PD-L1, and provide relevant information in patients progressing on treatment with targe...
Source: Expert Review of Molecular Diagnostics - July 17, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Trends in biomarker discoveries for the early detection and risk stratification of pancreatic cancer using omics studies.
Authors: Kobayashi T, Honda K PMID: 31298060 [PubMed - as supplied by publisher] (Source: Expert Review of Molecular Diagnostics)
Source: Expert Review of Molecular Diagnostics - July 14, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Serum heart-type fatty acid-binding protein as a predictor for the development of sepsis-associated acute kidney injury.
Authors: Jiang D, Shen M, Yuan X, Wang M, Li S, Jiang W, Zhou Z, Xi P, Wang T, Shen Y Abstract BACKGROUND: We analyzed the correlation between heart-type fatty acid-binding protein (HFABP) and the development of acute kidney injury (AKI) in patients with sepsis and estimated the predictive capacity of HFABP for sepsis-associated acute kidney injury (SAKI). METHODS: In this retrospective observational study, we screened 2,452 patients who received the HFABP test in the emergency department. 442 admitted patients with sepsis were finally enrolled. Based on the diagnostic criteria for AKI in Kidney Disease: Improv...
Source: Expert Review of Molecular Diagnostics - July 12, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

An integrative view on breast cancer signature panels.
Authors: Wang Z, Zhang X, Zhang S, Dai X Abstract INTRODUCTION: Breast cancer is heterogeneous with distinct clinical outcomes. Diverse types of markers are available on the market for breast cancer prognosis, diagnosis, and therapeutics, with distinct assay approaches. These, though they enlarge our selection pool for characterizing breast cancer patients and help improve the precision on the therapeutics, they can complicate our understanding and choice of marker panels. Areas covered: This review aims at classifying the commonly used marker panels according to their functionalities and detection approaches, comp...
Source: Expert Review of Molecular Diagnostics - July 12, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Biomarkers for Adult-onset Still's disease: up-to-date.
Authors: Ahn MH, Kim HA Abstract Adult-onset Still's disease (AOSD) is a rare systemic inflammatory disease characterised by a high spiking fever, arthralgia, lymphadenopathy, and hepatosplenomegaly. The clinical manifestations of AOSD range widely from mild constitutional symptoms to life-threatening complications, including fulminant hepatitis and macrophage activation syndrome. The heterogeneous symptoms and variable disease course makes the diagnosis of AOSD difficult, and the prognosis extremely difficult to predict. Therefore, a reliable biomarker is needed for diagnosing and predicting the prognosis of AOSD....
Source: Expert Review of Molecular Diagnostics - July 1, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Recent advances in molecular biomarkers for patients with hepatocellular carcinoma.
Authors: Umeda S, Kanda M, Kodera Y Abstract Introduction: Hepatocellular carcinoma (HCC) is a leading cause of cancer death worldwide and recurrence rate after curative resection remains high. To improve HCC prognosis, novel sensitive biomarkers and targeted molecular therapies are needed. Accumulation of multiple genetic aberrations caused by pathologically-derived liver damage results in HCC carcinogenesis. Elucidating the genes associated with tumorigenesis and progression of HCC may lead to the development of early detection and prognosis markers and to the identification of therapeutic targets. Areas covered:...
Source: Expert Review of Molecular Diagnostics - July 1, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Contemporary genetics-based diagnostics of male infertility.
Authors: Ferlin A, Dipresa S, Delbarba A, Maffezzoni F, Porcelli T, Cappelli C, Foresta C Abstract Introduction Thousands of genes are implicated in spermatogenesis, testicular development and endocrine regulation of testicular function. The genetic contribution to male infertility is therefore considerable, and basic and clinical research in last years found a number of genes that could potentially be used in clinical practice. Research has also been pushed by new technologies for genetic analysis. However, genetic analyses currently recommended in standard clinical practice are still relatively few. Areas covered...
Source: Expert Review of Molecular Diagnostics - June 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

The potential of circulating cell free RNA as a biomarker in cancer.
Authors: Cheung KWE, Choi SR, Lee LTC, Lee NLE, Tsang HF, Cheng YT, Cho WCS, Wong EYL, Wong SCC Abstract Introduction: It is now clear that circulating cell-free ribonucleic acids (ccfRNAs), including mRNA and miRNA, are potential cancer biomarkers. As ccfmiRNA is relatively more stable than ccfmRNA, research should concentrate on i) developing novel methods to preserve the stability of ccfmRNA and ii) standardization of the protocol which includes extraction, detection and multi-center validation. Areas covered: This literature review concentrates on the potential of ccfRNA being used as a biomarker in cancer, wit...
Source: Expert Review of Molecular Diagnostics - June 21, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

ESR1 mutations: a new biomarker in breast cancer.
Authors: Carausu M, Bidard FC, Callens C, Melaabi S, Jeannot E, Pierga JY, Cabel L Abstract Introduction: In hormone receptor-positive breast cancer, ESR1 mutations have emerged as a key mechanism of resistance to endocrine therapy. Areas covered: Here, we review currently available data on ESR1 mutations, regarding their functional impact, prevalence at different stages (and according to the material used: tissue-based analysis vs liquid biopsy), prognostic impact and predictive value of resistance to aromatase inhibitors. Possible strategies to overcome this resistance by using selective estrogen receptor downreg...
Source: Expert Review of Molecular Diagnostics - June 14, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

Blood-based diagnostics of Alzheimer's disease.
Authors: Penner G, Lecocq S, Chopin A, Vedoya X, Lista S, Vergallo A, Lejeune FX, Hampel H Abstract Introduction: This review is focused on the methods used for biomarker discovery for Alzheimer's disease (AD) in blood rather than on the nature of the biomarkers themselves. Areas covered: All biomarker discovery programs explicitly rely on contrasts in phenotype as a basis for defining differences. In this review, we explore the basis of contrasting choices as a function of the type of biomarker (genetic, protein, metabolite, non-coding RNA, or pathogenic epitope). We also provide an overview of the capacity to ide...
Source: Expert Review of Molecular Diagnostics - June 12, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research

ClonoSEQ assay for the detection of lymphoid malignancies.
Authors: Monter A, Nomdedéu JF Abstract Introduction: Immunoglobulin rearrangement studies by molecular methods are routinely used to detect clonality and to follow up patients with lymphoid malignancies. The design of a next-generation sequencing (NGS) panel using a comprehensive pool of primers, the establishment of a straightforward analytical protocol, a bioinformatic pipeline and the availability of the results of clinical studies have allowed the Clonoseq platform to be licensed as the first assay to measure minimal residual disease (MRD) both in acute lymphoblastic leukemia (ALL) and in multiple myelo...
Source: Expert Review of Molecular Diagnostics - June 12, 2019 Category: Laboratory Medicine Tags: Expert Rev Mol Diagn Source Type: research