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Expert Review of Molecular Diagnostics

Hin-Fung Tsang, Vivian Weiwen Xue, Su-Pin Koh, Ya-Ming Chiu, Lawrence Po-Wah Ng, Sze-Chuen Cesar Wong
Formalin-fixed, paraffin-embedded (FFPE) tissue sample is a gold mine of resources for molecular diagnosis and retrospective clinical studies. Although molecular technologies have expanded the range of mutations identified in FFPE samples, the applications of existing technologies are limited by the low nucleic acids yield and poor extraction quality. As a result, the routine clinical applications of molecular diagnosis using FFPE samples has been associated with many practical challenges. NanoString technologies utilize a novel digital color-coded barcode technology based on direct multiplexed measurement of gene expression and offer high levels of precision and sensitivity...
December 3, 2016: Expert Review of Molecular Diagnostics
Matteo Gastaldi, Elisabetta Zardini, Diego Franciotta
Intrathecal B-lymphocyte activation is a hallmark of multiple sclerosis (MS), a multi-factorial inflammatory-demyelinating disease of the central nervous system. Such activation has a counterpart in the cerebrospinal fluid (CSF) oligoclonal IgG bands (OCB), whose diagnostic role in MS has been downgraded within the current McDonald's criteria. With a theoretico-practical approach, the authors review the physiopathological basis of the CSF dynamics, and the state-of-the-art of routine CSF analysis and CSF biomarkers in MS...
December 2, 2016: Expert Review of Molecular Diagnostics
Deborah Cragun, Anita Y Kinney, Tuya Pal
DNA sequencing advances through next-generation sequencing (NGS) and several practice changing events, have led to shifting paradigms for inherited cancer predisposition testing. These changes necessitated a means by which to maximize health benefits without unnecessarily inflating healthcare costs and exacerbating health disparities. Areas covered: NGS-based tests encompass multi-gene panel tests, whole exome sequencing, and whole genome sequencing, all of which test for multiple genes simultaneously, compared to prior sequencing practices through which testing was performed sequentially for one or two genes...
December 2, 2016: Expert Review of Molecular Diagnostics
Karen Sermon
Preimplantation genetic diagnosis (PGD) was introduced as an alternative to prenatal diagnosis: embryos cultured in vitro were analysed for a monogenic disease and only disease-free embryos were transferred to the mother, to avoid the termination of pregnancy with an affected foetus. It soon transpired that human embryos show a great deal of acquired chromosomal abnormalities, thought to explain the low success rate of IVF - hence preimplantation genetic testing for aneuploidy (PGT-A) was developed to select euploid embryos for transfer...
December 1, 2016: Expert Review of Molecular Diagnostics
Harmen G Booij, Anne M Koning, Harry van Goor, Rudolf A de Boer, B Daan Westenbrink
Introduction Heart failure (HF) has become the cardiovascular epidemic of the century and now imposes an immense burden on health care systems. While our understanding of the pathophysiology of HF has increased dramatically, the translation of knowledge into clinical practice has been disappointing. Metabolic dysfunction in HF has been studied for eight decades, but these efforts have not resulted in effective therapies. This paucity in clinical translation probably results from the variable contribution of metabolic dysfunction to the underlying heart disease...
November 30, 2016: Expert Review of Molecular Diagnostics
Susanna Esposito, Nicola Principi
The advent of nucleic acid amplification tests has significantly improved the aetiologic diagnosis of respiratory infections. However, multiplex real-time polymerase chain reaction (PCR) can be technologically challenging. Areas covered: This paper reports the results of the main published studies on the NxTAG Respiratory Pathogen Panel (RPP) and discusses the advantages and disadvantages of extensive use of multiplex assays in clinical practice. Expert commentary: Currently available data seem to indicate that routine use of multiplex assays, including NxTAG RPP Assay, should be recommended only when epidemiological data concerning circulation of viruses and bacteria have to be collected...
November 30, 2016: Expert Review of Molecular Diagnostics
Michelangelo Fiorentino, Marina Scarpelli, Antonio Lopez-Beltran, Liang Cheng, Rodolfo Montironi
Molecular tests that were once ancillary to the core business of cyto-histopathology are becoming the third most relevant workload in pathology departments after histopathology/cytopathology and before autopsies. This has resulted from innovations in molecular biology techniques, which have developed at an incredibly fast pace. Areas covered: Most of the current widely used techniques in molecular pathology such as FISH, direct sequencing, pyrosequencing, and allele-specific PCR will be replaced by massive parallel sequencing that will not be considered next generation, but rather, will be considered to be current generation sequencing...
November 29, 2016: Expert Review of Molecular Diagnostics
Jens Schittenhelm
Primary brain tumors account for substantial morbidity and mortality. They often infiltrate the brain diffusely, continue growing, and cause adverse events, such as headaches, seizures, and neurological deficits. The classification of primary brain tumors, based for decades on histology, has been fundamentally changed by the World Health Organization in 2016 by incorporation of molecular data. Areas covered: Literature from glioblastomas, high- and low-grade astrocytic, oligodendroglial, glioneuronal and ependymal tumors from the last five years were reviewed...
November 28, 2016: Expert Review of Molecular Diagnostics
Eva Ružić-Sabljić, Tjaša Cerar
Current laboratory testing of Lyme borreliosis mostly relies on serological methods with known limitations. Diagnostic modalities enabling direct detection of pathogen at the onset of the clinical signs could overcome some of the limitations. Molecular methods detecting borrelial DNA seem to be the ideal solution, although there are some aspects that need to be considered. Areas covered: This review represent summary and discussion of the published data obtained from literature searches from PubMed and The National Library of Medicine (USA) together with our own experience on molecular diagnosis of Lyme disease...
November 28, 2016: Expert Review of Molecular Diagnostics
Emily MacLean, Sophie Huddart, Madhukar Pai
No abstract text is available yet for this article.
November 28, 2016: Expert Review of Molecular Diagnostics
J F Swennenhuis, G van Dalum, L L Zeune, L W M M Terstappen
The CellSearch® CTC test enumerates tumor cells present in 7.5 ml blood of cancer patients. improvements, extensions and different utilities of the cellsearch system are discussed in this paper. Areas covered: This paper describes work performed with the CellSearch system, which go beyond the normal scope of the test. All results from searches with the search term 'CellSearch' from Web of Science and PubMed were categorized and discussed. Expert commentary: The CellSearch Circulating Tumor Cell test captures and identifies tumor cells in blood that are associated with poor clinical outcome...
November 17, 2016: Expert Review of Molecular Diagnostics
Kristina Althoff, Johannes H Schulte, Alexander Schramm
Neuroblastoma is a solid cancer of childhood, which is devastating upon recurrence. Markers for minimal residual disease and early detection of relapse are eagerly awaited to improve the outcome of affected patients. Several miRNAs have been identified as key regulators of neuroblastoma pathogenesis. Areas covered: Here, we focus on miRNAs that have been linked to MYCN, a prominent oncogenic driver, and we review the hitherto known interactions between miRNAs and other important players in neuroblastoma. Expert commentary: Existing diagnostic miRNA signatures remain to be established in clinical settings...
November 15, 2016: Expert Review of Molecular Diagnostics
Aliccia Bollig-Fischer
No abstract text is available yet for this article.
November 11, 2016: Expert Review of Molecular Diagnostics
Ge Gao, David I Smith
No abstract text is available yet for this article.
November 10, 2016: Expert Review of Molecular Diagnostics
Samanta Salvi, Filippo Martignano, Chiara Molinari, Giorgia Gurioli, Daniele Calistri, Ugo De Giorgi, Vincenza Conteduca, Valentina Casadio
Although the role of circulating cell free DNA in cancer has been widely demonstrated, less is known about the role of urine cell free DNA (UcfDNA). UcfDNA can serve as a 'liquid biopsy' for urological and non-urological tumors, as it carries information on DNA from cells exfoliated in urine and from circulation. Areas covered: We review the studies on UcfDNA as a source of biomarkers for cancer, focusing on the new techniques and the differences between urological and non-urological tumors. We searched Pubmed for articles published between 1998 and 2016 with the following key words and phrases: 'urine' and 'cell free DNA' or 'liquid biopsy' or 'cancer'...
November 10, 2016: Expert Review of Molecular Diagnostics
Rebecca A Previs, Anil K Sood, Gordon B Mills, Shannon N Westin
Next-generation sequencing and advances in 'omics technology have rapidly increased our understanding of the molecular landscape of epithelial ovarian cancers. Areas covered: Once characterized only by histologic appearance and clinical behavior, we now understand many of the molecular phenotypes that underlie the different ovarian cancer subtypes. While the current approach to treatment involves standard cytotoxic therapies after cytoreductive surgery for all ovarian cancers regardless of histologic or molecular characteristics, focus has shifted beyond a 'one size fits all' approach to ovarian cancer...
November 9, 2016: Expert Review of Molecular Diagnostics
Mark P Nicol
No abstract text is available yet for this article.
November 8, 2016: Expert Review of Molecular Diagnostics
Stephen Young, Barbara Body, Franklin Moore, Sherry Dunbar
The ARIES® HSV 1&2 Assay is a new FDA cleared real-time PCR test for detection and differentiation of HSV-1 and HSV-2 DNA from cutaneous and mucocutaneous lesions. The test is performed on the ARIES® System, an automated sample to answer real-time PCR instrument that provides a closed system and simple workflow for performing molecular testing. Areas covered: This article reports the clinical performance of the ARIES® HSV 1&2 Assay assessed on 1963 prospectively collected specimens. Assay sensitivities were 91...
November 7, 2016: Expert Review of Molecular Diagnostics
André Huss, Mathias Buttmann, Isabel Brecht, Andreas Weishaupt, Markus Otto, Hayrettin Tumani
BACKGROUND: Beside the determination of oligoclonal bands (OCBs) as a diagnostic biomarker in multiple sclerosis (MS), the presence of an intrathecal production of antibodies against the neurotropic viruses measles (M), rubella (R) and Varicella-Zoster (Z), the so called MRZ reaction (MRZR) is an even more specific diagnostic biomarker in MS. METHODS: We compared and validated the determination of the MRZR in 97 cerebrospinal fluid (CSF) and serum sample pairs of a bead-based multiplexing technique and a classical enzyme-linked immunosorbent assay (ELISA)...
October 31, 2016: Expert Review of Molecular Diagnostics
Christophe Roos
No abstract text is available yet for this article.
October 14, 2016: Expert Review of Molecular Diagnostics
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