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Journal of Molecular Diagnostics: JMD

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https://www.readbyqxmd.com/read/28341590/guidelines-for-validation-of-next-generation-sequencing-based-oncology-panels-a-joint-consensus-recommendation-of-the-association-for-molecular-pathology-and-college-of-american-pathologists
#1
REVIEW
Lawrence J Jennings, Maria E Arcila, Christopher Corless, Suzanne Kamel-Reid, Ira M Lubin, John Pfeifer, Robyn L Temple-Smolkin, Karl V Voelkerding, Marina N Nikiforova
Next-generation sequencing (NGS) methods for cancer testing have been rapidly adopted by clinical laboratories. To establish analytical validation best practice guidelines for NGS gene panel testing of somatic variants, a working group was convened by the Association of Molecular Pathology with liaison representation from the College of American Pathologists. These joint consensus recommendations address NGS test development, optimization, and validation, including recommendations on panel content selection and rationale for optimization and familiarization phase conducted before test validation; utilization of reference cell lines and reference materials for evaluation of assay performance; determining of positive percentage agreement and positive predictive value for each variant type; and requirements for minimal depth of coverage and minimum number of samples that should be used to establish test performance characteristics...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28341589/comprehensive-determination-of-prostate-tumor-ets-gene-status-in-clinical-samples-using-the-clia-decipher-assay
#2
Alba Torres, Mohammed Alshalalfa, Scott A Tomlins, Nicholas Erho, Ewan A Gibb, Jijumon Chelliserry, Lony Lim, Lucia L C Lam, Sheila F Faraj, Stephania M Bezerra, Elai Davicioni, Kasra Yousefi, Ashley E Ross, George J Netto, Edward M Schaeffer, Tamara L Lotan
ETS family gene fusions are common in prostate cancer and molecularly define a tumor subset. ERG is the most commonly rearranged member, leading to its overexpression, followed by ETV1, ETV4, and ETV5, and these alterations are generally mutually exclusive. We validated the Decipher prostate cancer assay to detect ETS alterations in a Clinical Laboratory Improvement Amendments-accredited laboratory. Benchmarking against ERG immunohistochemistry and ETV1/4/5 RNA in situ hybridization, we examined the accuracy, precision, and reproducibility of gene expression ETS models using formalin-fixed, paraffin-embedded samples...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28341588/targeted-next-generation-sequencing-of-51-genes-involved-in-primary-electrical-disease
#3
Dorien Proost, Johan Saenen, Geert Vandeweyer, Annelies Rotthier, Maaike Alaerts, Emeline M Van Craenenbroeck, Joachim Van Crombruggen, Geert Mortier, Wim Wuyts, Christiaan Vrints, Jurgen Del Favero, Bart Loeys, Lut Van Laer
Primary electrical disease (PED) is characterized by cardiac arrhythmias, which can lead to sudden cardiac death in the absence of detectable structural heart disease. PED encompasses a diversity of inherited syndromes, predominantly Brugada syndrome, early repolarization syndrome, long QT syndrome, short QT syndrome, arrhythmogenic right ventricular cardiomyopathy, and catecholaminergic polymorphic ventricular tachycardia. To overcome the diagnostic challenges imposed by the clinical and genetic heterogeneity of PED, we developed a targeted gene panel for next-generation sequencing of 51 PED genes...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28341587/impact-of-rapid-molecular-respiratory-virus-testing-on-real-time-decision-making-in-a-pediatric-emergency-department
#4
Daniel T Rogan, Mohit S Kochar, Samuel Yang, James V Quinn
Acute respiratory illnesses (ARIs) are usually viral [influenza, respiratory syncytial virus (RSV)] and account for 25% of emergency department (ED) peak-season visits. Laboratory respiratory PCR testing is accurate albeit slow for ED management, whereas rapid antigen testing is inaccurate. We determined the impact of bedside influenza/RSV PCR (molecular point-of-care test; mPOCT) on pediatric ARI management. This was a prospective cohort study of consecutive pediatric patients with ED-ordered respiratory PCR test, enrolled over 9 weeks during peak flu season...
March 21, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28325688/current-and-emerging-molecular-tests-for-human-papillomavirus-related-neoplasia-in-the-genomic-era
#5
REVIEW
Sixto M Leal, Margaret L Gulley
Laboratory tests have a key role in preventing human papillomavirus (HPV)-driven carcinomas and in guiding therapeutic interventions. An understanding of the virology, immunology, and carcinogenesis of HPV is essential for choosing appropriate diagnostic test modalities and developing new and even more effective cancer prevention strategies. HPV infects basal epithelial cells on multiple surfaces and induces carcinoma primarily in the cervix and the oropharynx. HPV types are stratified as high risk or low risk based on their carcinogenic potential, driven largely by viral interference with cell cycle regulation and the DNA damage response to promote continuous cell division while thwarting apoptosis, which enables mutation accumulation...
March 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28315673/chromosomal-microarray-detection-of-constitutional-copy-number-variation-using-saliva-dna
#6
Jennifer Reiner, Lisa Karger, Ninette Cohen, Lakshmi Mehta, Lisa Edelmann, Stuart A Scott
Chromosomal microarray (CMA) testing to detect copy number aberrations among individuals with multiple congenital anomalies and/or developmental delay is typically performed on peripheral blood DNA. However, the use of saliva DNA may be preferred for some patients, which prompted our validation study using six saliva DNA samples with a range of bacterial content (approximately 3% to 21%) and 20 paired blood and saliva specimens on the Agilent Technologies, Illumina, and Affymetrix CMA platforms. Ten of the 20 paired specimens were previously determined to carry clinically significant copy number aberrations by clinical CMA testing on blood DNA (100 kb to 2...
March 15, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28315672/principles-and-recommendations-for-standardizing-the-use-of-the-next-generation-sequencing-variant-file-in-clinical-settings
#7
Ira M Lubin, Nazneen Aziz, Lawrence J Babb, Dennis Ballinger, Himani Bisht, Deanna M Church, Shaun Cordes, Karen Eilbeck, Fiona Hyland, Lisa Kalman, Melissa Landrum, Edward R Lockhart, Donna Maglott, Gabor Marth, John D Pfeifer, Heidi L Rehm, Somak Roy, Zivana Tezak, Rebecca Truty, Mollie Ullman-Cullere, Karl V Voelkerding, Elizabeth Worthey, Alexander W Zaranek, Justin M Zook
A national workgroup convened by the Centers for Disease Control and Prevention identified principles and made recommendations for standardizing the description of sequence data contained within the variant file generated during the course of clinical next-generation sequence analysis for diagnosing human heritable conditions. The specifications for variant files were initially developed to be flexible with regard to content representation to support a variety of research applications. This flexibility permits variation with regard to how sequence findings are described and this depends, in part, on the conventions used...
March 15, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28284778/detection-of-aberrant-tert-promoter-methylation-by-combined-bisulfite-restriction-enzyme-analysis-for-cancer-diagnosis
#8
Seungjae Lee, Sumit Borah, Armita Bahrami
Aberrant CpG dinucleotide methylation in a specific region of the telomerase reverse transcriptase (TERT) promoter is associated with increased TERT mRNA levels and malignancy in several cancer types. However, routine screening of this region to aid cancer diagnosis can be challenging because i) several established methylation assays may inaccurately report on hypermethylation of this particular region, ii) interpreting the results of methylation assays can sometimes be difficult for clinical laboratories, and iii) use of high-throughput methylation assays for a few patient samples can be cost prohibitive...
March 8, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28268092/droplet-digital-pcr-is-a-reliable-tool-for-monitoring-minimal-residual-disease-in-acute-promyelocytic-leukemia
#9
Claudia Brunetti, Luisa Anelli, Antonella Zagaria, Angela Minervini, Crescenzio F Minervini, Paola Casieri, Nicoletta Coccaro, Cosimo Cumbo, Giuseppina Tota, Luciana Impera, Paola Orsini, Giorgina Specchia, Francesco Albano
Nested PCR (nPCR) and real-time quantitative PCR (qPCR) are well-established methods for monitoring minimal residual disease (MRD) in acute promyelocytic leukemia (APL). Despite their remarkable sensitivity and specificity, both methods have inherent limitations, such as qualitative MRD evaluation and relative quantification. Herein, we used droplet digital PCR (ddPCR) to monitor MRD in 21 APL patients and compared its performance with nPCR and qPCR. After assessing the limit of detection (LOD) for each technique on serial dilutions of PML-RARA bcr1 and bcr3 transcripts, a total of 48 follow-up samples were analyzed and the results compared...
March 4, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28222274/correction
#10
(no author information available yet)
No abstract text is available yet for this article.
February 18, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28188106/analytical-validation-of-the-next-generation-sequencing-assay-for-a-nationwide-signal-finding-clinical-trial-molecular-analysis-for-therapy-choice-clinical-trial
#11
Chih-Jian Lih, Robin D Harrington, David J Sims, Kneshay N Harper, Courtney H Bouk, Vivekananda Datta, Jonathan Yau, Rajesh R Singh, Mark J Routbort, Rajyalakshmi Luthra, Keyur P Patel, Geeta S Mantha, Savitri Krishnamurthy, Karyn Ronski, Zenta Walther, Karin E Finberg, Sandra Canosa, Hayley Robinson, Amelia Raymond, Long P Le, Lisa M McShane, Eric C Polley, Barbara A Conley, James H Doroshow, A John Iafrate, Jeffrey L Sklar, Stanley R Hamilton, P Mickey Williams
The National Cancer Institute-Molecular Analysis for Therapy Choice (NCI-MATCH) trial is a national signal-finding precision medicine study that relies on genomic assays to screen and enroll patients with relapsed or refractory cancer after standard treatments. We report the analytical validation processes for the next-generation sequencing (NGS) assay that was tailored for regulatory compliant use in the trial. The Oncomine Cancer Panel assay and the Personal Genome Machine were used in four networked laboratories accredited for the Clinical Laboratory Improvement Amendments...
February 3, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28185757/molecular-biomarkers-for-the-evaluation-of-colorectal-cancer-guideline-from-the-american-society-for-clinical-pathology-college-of-american-pathologists-association-for-molecular-pathology-and-american-society-of-clinical-oncology
#12
REVIEW
Antonia R Sepulveda, Stanley R Hamilton, Carmen J Allegra, Wayne Grody, Allison M Cushman-Vokoun, William K Funkhouser, Scott E Kopetz, Christopher Lieu, Noralane M Lindor, Bruce D Minsky, Federico A Monzon, Daniel J Sargent, Veena M Singh, Joseph Willis, Jennifer Clark, Carol Colasacco, R Bryan Rumble, Robyn Temple-Smolkin, Christina B Ventura, Jan A Nowak
OBJECTIVES: To develop evidence-based guideline recommendations through a systematic review of the literature to establish standard molecular biomarker testing of colorectal cancer (CRC) tissues to guide epidermal growth factor receptor (EGFR) therapies and conventional chemotherapy regimens. METHODS: The American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology convened an expert panel to develop an evidence-based guideline to establish standard molecular biomarker testing and guide therapies for patients with CRC...
February 2, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28130021/precision-medicine-requires-precision-laboratories
#13
Mangalathu S Rajeevan, Tengguo Li, Elizabeth R Unger
This commentary highlights the validation study by Lih et al that supports the use of precision medicine for improved clinical trials.
January 24, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28087349/combination-of-multiple-ligation-dependent-probe-amplification-and-illumina-miseq-amplicon-sequencing-for-tsc1-tsc2-gene-analyses-in-patients-with-tuberous-sclerosis-complex
#14
Nur Farrah Dila Ismail, Abdul Qawee Rani, Nik Mohd Ariff Nik Abdul Malik, Chia Boon Hock, Siti Nabilahuda Mohd Azlan, Salmi Abdul Razak, Wee Teik Keng, Lock Hock Ngu, Abdul Rashid Silawati, Nor AzniYahya, Narazah Mohd Yusoff, Teguh Haryo Sasongko, Zabidi Azhar Mohd Hussin
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disorder characterized by tumor growth in multiple organs and caused by mutations in either TSC1 or TSC2 genes. Because of their relatively large genomic sizes, absence of hotspots, and common type of mutations, mutation detection in TSC1 and TSC2 genes has been challenging. We devised a combination of multiple ligation-dependent probe amplification (MLPA) and amplicon sequencing (AS) to simplify the detection strategy, yet we come up with reasonably high detection rate...
January 10, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28081922/application-of-nuclear-magnetic-resonance-to-detect-toxigenic-clostridium-difficile-from-stool-specimens-a-proof-of-concept
#15
Paul Yang, Sara Hash, Katherine Park, Charlene Wong, Loganathan Doraisamy, Jonas Petterson, Cathy A Petti, Pamela M Ward, Seung H Lee, Suresh Menon, Rosemary C She
We evaluated the performance of an early prototype core molecular mirroring nuclear magnetic resonance detection platform (Mentor-100) to detect toxigenic Clostridium difficile from stool. This technology uses customized nanoparticles bound to target specific oligonucleotide probes that form binaries in the presence of nucleic acid from the target microorganism. Liquid patient stool specimens were seeded with C. difficile or other Clostridium species to determine the analytical sensitivity and specificity. Samples underwent nucleic acid extraction and target amplification with probes conjugated with iron nanoparticles...
January 9, 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28190462/correction
#16
(no author information available yet)
No abstract text is available yet for this article.
March 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28190461/detection-of-mycobacterium-chelonae-mycobacterium-abscessus-group-and-mycobacterium-fortuitum-complex-by-a-multiplex-real-time-pcr-directly-from-clinical-samples-using-the-bd-max-system
#17
Talita T Rocchetti, Suzane Silbert, Alicia Gostnell, Carly Kubasek, Antonio C Campos Pignatari, Raymond Widen
A new multiplex PCR test was designed to detect Mycobacterium chelonae, Mycobacterium abscessus group, and Mycobacterium fortuitum complex on the BD MAX System. A total of 197 clinical samples previously submitted for mycobacterial culture were tested using the new protocol. Samples were first treated with proteinase K, and then each sample was inoculated into the BD MAX Sample Buffer Tube. Extraction and multiplex PCR were performed by the BD MAX System, using the BD MAX ExK TNA-3 extraction kit and BD TNA Master Mix, along with specific in-house designed primers and probes for each target...
March 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28190460/guidelines-for-colorectal-cancer-testing-evidence-based-practice-recommendations
#18
EDITORIAL
Barbara Zehnbauer, Robyn Temple-Smolkin, Federico A Monzon
This Editorial provides readers additional insight on the colorectal guideline appearing in this issue.
March 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/28027945/next-generation-assessment-of-human-growth-factor-receptor-2-erbb2-amplification-status-clinical-validation-in-the-context-of-a-hybrid-capture-based-comprehensive-solid-tumor-genomic-profiling-assay
#19
Dara S Ross, Ahmet Zehir, Donavan T Cheng, Ryma Benayed, Khedoudja Nafa, Jaclyn F Hechtman, Yelena Y Janjigian, Britta Weigelt, Pedram Razavi, David M Hyman, José Baselga, Michael F Berger, Marc Ladanyi, Maria E Arcila
Establishing ERBB2 [human epidermal growth factor receptor 2 (HER2)] amplification status in breast and gastric carcinomas is essential to treatment selection. Immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) constitute the current standard for assessment. With further advancements in genomic medicine, new clinically relevant biomarkers are rapidly emerging and options for targeted therapy are increasing in patients with advanced disease, driving the need for comprehensive molecular profiling...
March 2017: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/27993330/standards-and-guidelines-for-the-interpretation-and-reporting-of-sequence-variants-in-cancer-a-joint-consensus-recommendation-of-the-association-for-molecular-pathology-american-society-of-clinical-oncology-and-college-of-american-pathologists
#20
REVIEW
Marilyn M Li, Michael Datto, Eric J Duncavage, Shashikant Kulkarni, Neal I Lindeman, Somak Roy, Apostolia M Tsimberidou, Cindy L Vnencak-Jones, Daynna J Wolff, Anas Younes, Marina N Nikiforova
Widespread clinical laboratory implementation of next-generation sequencing-based cancer testing has highlighted the importance and potential benefits of standardizing the interpretation and reporting of molecular results among laboratories. A multidisciplinary working group tasked to assess the current status of next-generation sequencing-based cancer testing and establish standardized consensus classification, annotation, interpretation, and reporting conventions for somatic sequence variants was convened by the Association for Molecular Pathology with liaison representation from the American College of Medical Genetics and Genomics, American Society of Clinical Oncology, and College of American Pathologists...
January 2017: Journal of Molecular Diagnostics: JMD
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