The Journal of Molecular Diagnostics: November 2018 (Volume 20,Issue 6)

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Special Article


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  Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology
Rebecca F. McClure, Mark D. Ewalt, Jennifer Crow, Robyn L. Temple-Smolkin, Mrudula Pullambhatla, Rachel Sargent, Annette S. Kim
   
  Technical Advance


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  Electric Field–Induced Release and Measurement Liquid Biopsy for Noninvasive Early Lung Cancer Assessment
Fang Wei, Charles M. Strom, Jordan Cheng, Chien-Chung Lin, Ching-Yun Hsu, Guy W. Soo Hoo, David Chia, Yong Kim, Feng Li, David Elashoff, Tristan Grognan, Michael Tu, Wei Liao, Rena Xian, Wayne W. Grody, Wu-Chou Su, David T.W. Wong
   
  Regular Articles


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  Describing the Reportable Range Is Important for Reliable Treatment Decisions: A Multiple Laboratory Study for Molecular Tumor Profiling Using Next-Generation Sequencing
Véronique Tack, Lien Spans, Ed Schuuring, Cleo Keppens, Karen Zwaenepoel, Patrick Pauwels, Jeroen Van Houdt, Elisabeth M.C. Dequeker
   
  Benchmarking of Amplicon-Based Next-Generation Sequencing Panels Combined with Bioinformatics Solutions for Germline BRCA1 and BRCA2 Alteration Detection
Julie A. Vendrell, Paul Vilquin, Marion Larrieux, Charles Van Goethem, Jérôme Solassol
   
  OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies
Matthew C. Hiemenz, Dejerianne G. Ostrow, Tracy M. Busse, Jonathan Buckley, Dennis T. Maglinte, Moiz Bootwalla, James Done, Jianling Ji, Gordana Raca, Alex Ryutov, Xinjie Xu, Chao Jie Zhen, Jeffrey M. Conroy, Florette K. Hazard, Joshua L. Deignan, Beverly B. Rogers, Amanda L. Treece, David M. Parham, Xiaowu Gai, Alexander R. Judkins, Timothy J. Triche, Jaclyn A. Biegel
   
  High-Throughput Copy Number Profiling by Digital Multiplex Ligation-Dependent Probe Amplification in Multiple Myeloma
Szabolcs Kosztolányi, Richárd Kiss, Lilit Atanesyan, Ambrus Gángó, Karel de Groot, Maryvonne Steenkamer, Pál Jáksó, András Matolcsy, Béla Kajtár, László Pajor, Károly Szuhai, Suvi Savola, Csaba Bödör, Donát Alpár
   
  Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants
Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Mark J. Bowser, Elizabeth Hynes, Andrew R. Grant, Rebecca K. Siegert, Andrea M. Oza, Michael A. Gonzalez, Sami S. Amr, Heidi L. Rehm, Ahmad N. Abou Tayoun
   
  Next-Generation Sequencing Using S1 Nuclease for Poor-Quality Formalin-Fixed, Paraffin-Embedded Tumor Specimens
Sung-Min Chun, Chang Ohk Sung, Hyejoon Jeon, Tae-Im Kim, Ji-Young Lee, Hwan Park, Yujin Kim, Deokhoon Kim, Se Jin Jang
   
  Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience
Agnes Balla, Ken J. Hampel, Mukesh K. Sharma, Catherine E. Cottrell, Nikoletta Sidiropoulos
   
  Analytical Validation of Clinical Whole-Genome and Transcriptome Sequencing of Patient-Derived Tumors for Reporting Targetable Variants in Cancer
Kazimierz O. Wrzeszczynski, Vanessa Felice, Avinash Abhyankar, Lukasz Kozon, Heather Geiger, Dina Manaa, Ferrah London, Dino Robinson, Xiaolan Fang, David Lin, Michelle F. Lamendola-Essel, Depinder Khaira, Esra Dikoglu, Anne-Katrin Emde, Nicolas Robine, Minita Shah, Kanika Arora, Olca Basturk, Umesh Bhanot, Alex Kentsis, Mahesh M. Mansukhani, Govind Bhagat, Vaidehi Jobanputra
Open Access   
  Diagnostic Targeted Sequencing Panel for Hepatocellular Carcinoma Genomic Screening
Viola Paradiso, Andrea Garofoli, Nadia Tosti, Manuela Lanzafame, Valeria Perrina, Luca Quagliata, Matthias S. Matter, Stefan Wieland, Markus H. Heim, Salvatore Piscuoglio, Charlotte K.Y. Ng, Luigi M. Terracciano
   
A Head-to-Head Analytical Comparison of Cobas 4800 HPV, PapilloCheck HPV Screening, and LMNX Genotyping Kit HPV GP for Detection of Human Papillomavirus DNA in Cervical and Cervicovaginal Swabs
Hana Jaworek, Vladimira Koudelakova, Jiri Drabek, Jana Vrbkova, Blazena Zborilova, Ivana Oborna, Jana Brezinova, Radim Marek, Karel Huml, Peter Vanek, Marian Hajduch
   
  Noninvasive Molecular Monitoring in Multiple Myeloma Patients Using Cell-Free Tumor DNA: A Pilot Study
Giulia Biancon, Silvia Gimondi, Antonio Vendramin, Cristiana Carniti, Paolo Corradini
Open Access   
  Validation of a Long-Read PCR Assay for Sensitive Detection and Sizing of C9orf72 Hexanucleotide Repeat Expansions
EunRan Suh, Kaitlyn Grando, Vivianna M. Van Deerlin
   
  Effects of Collection and Processing Procedures on Plasma Circulating Cell-Free DNA from Cancer Patients
Bente Risberg, Dana W.Y. Tsui, Heather Biggs, Andrea Ruiz-Valdepenas Martin de Almagro, Sarah-Jane Dawson, Charlotte Hodgkin, Linda Jones, Christine Parkinson, Anna Piskorz, Francesco Marass, Dineika Chandrananda, Elizabeth Moore, James Morris, Vincent Plagnol, Nitzan Rosenfeld, Carlos Caldas, James D. Brenton, Davina Gale
Open Access  

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https://www.sciencedirect.com/science/article/pii/S1525157817304968?via%3DihubHigh-risk human papillomavirus (hrHPV) infection is a cause of cervical cancer development. The addition of hrHPV testing to cervical cancer screening and monitoring of cervical intraepithelial neoplasia treatment improves the efficacy of screening and treatment, respectively. Self-sampling for hrHPV testing seems a promising tool for increasing patient participation in cervical cancer screening. In this project, 1198 cervical swabs obtained by physicians and 176 cervicovaginal swabs obtained by self-sampling (not collected in parallel) were analyzed for the presence of 14 hrHPV genotypes using three commercially available assays in comparison. HPV DNA was detected in 21.2% of all samples (21% of cervical swabs and 22.7% of cervicovaginal swabs). The cobas 4800 HPV Test was the most sensitive (0.983) and specific (0.992) for hrHPV detection overall. The PapilloCheck HPV-Screening and LMNX Genotyping Kit HPV GP had comparable specificity with that of the cobas (0.989 and 0.955, respectively), but lesser sensitivity (0.897 and 0.909, respectively). In physician-obtained cervical swabs, the cobas showed the highest sensitivity and specificity (0.980 and 0.994, respectively) for hrHPV detection, whereas in cervicovaginal swabs, the cobas had the highest sensitivity (1.00), but the PapilloCheck had the highest specificity (0.993). In conclusion, all of the detection methods evaluated were highly sensitive and specific for hrHPV detection from both clinician-collected cervical swabs and self-sampled cervicovaginal swabs.