Current Issue January 2012 | Vol.14 No. 1

Issue Highlights

Quality Assurance of RNA Expression Profiling in Clinical Laboratories
This review describes unique ways that clinical laboratories use controls and quality checks along with bioinformatic tools to assure quality of RNA profiling assays. The strategies described herein are relevant for RNA-based testing or complex multi-analyte testing.
Complete Screening of 50 Patients with CHARGE Syndrome for Anomalies in the CHD7 Gene Using a Denaturing High-Performance Liquid Chromatography--Based Protocol: New Guidelines and a Proposal for Routine Diagnosis
An alternative screening method is proposed to quickly detect CHD7 mutations in CHARGE syndrome using mainly denaturing high-performance liquid chromatography, providing a robust, rapid, and cheaper method to screen small intragenic rearrangements or entire deletions.
A PIK3CA Pyrosequencing-Based Assay that Excludes Pseudogene Interference
PIK3CA mutations exist in a broad spectrum of tumors, but the presence of a psuedogene can interfere with mutation detection. A novel pyrosequencing assay can detect mutations in all three positions in the three hot spot codons without pseudogene interference
Plasma Components Affect Accuracy of Circulating Cancer-Related MicroRNA Quantitation
Analysis of circulating miRNAs as candidate biomarkers requires sensitive and accurate quantitation of miRNA concentrations in body fluids. The present study outlines key factors that skew miRNA quantitation and provides approaches that enable faithful quantitation of miRNA abundance in blood serum and plasma.

Combined Molecular Gram Typing and High-Resolution Melting Analysis for Rapid Identification of a Syndromic Panel of Bacteria Responsible for Sepsis-Associated Bloodstream Infection
24 January 2012
Hani Ozbak, Paul Dark, Satyanarayana Maddi, Paul Chadwick, Geoffrey Warhurst
Effective diagnosis and treatment of bloodstream infections are often hampered by a lack of time-critical information from blood cultures. Molecular techniques aimed at the detection of circulating pa...
Relevance, Pathogenesis, and Testing Algorithm for Mismatch Repair–Defective Colorectal Carcinomas: A Report of the Association of Molecular Pathology
18 January 2012
William K. Funkhouser, Ira M. Lubin, Federico A. Monzon, Barbara A. Zehnbauer, James P. Evans, Shuji Ogino, Jan A. Nowak
Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of microsatellite instability, occur in approximately 15% of all colorectal carcinomas (CRCs). This molecular subse...
Implications for Powering Biomarker Discovery Studies
16 January 2012
Sian M. Dibben, Robert J. Holt, Timothy S. Davison, Claire L. Wilson, Janet Taylor, Ian Paul, Kieran McManus, Paul J. Kelly, Vitali Proutski, D. Paul Harkin, Peter Kerr, Dean A. Fennell, Jacqueline A. James, Richard D. Kennedy
This study examined variations in gene expression between FFPE blocks within tumors of individual patients. Microarray data were used to measure tumor heterogeneity within and between patients and dis...
Absolute and Relative Quantification of Placenta-Specific MicroRNAs in Maternal Circulation with Placental Insufficiency–Related Complications
16 January 2012
Ilona Hromadnikova, Katerina Kotlabova, Jindrich Doucha, Klara Dlouha
Placental insufficiency–related complications are one of the leading causes of maternal and perinatal morbidity and mortality. This study investigated the quantification of placenta-specific microRNAs...
Stability of PCR Targets for Monitoring Minimal Residual Disease in Neuroblastoma
16 January 2012
Janine Stutterheim, Lily Zappeij-Kannegieter, Ingrid Øra, Peter G. van Sluis, Johannes Bras, Emmy den Ouden, Rogier Versteeg, Huib N. Caron, C. Ellen van der Schoot, Godelieve A.M. Tytgat
In neuroblastoma (NB) patients, minimal residual disease (MRD) can be detected by real-time quantitative PCR (qPCR) using NB-specific target genes, such as PHOX2B and TH. However, it is unknown whethe...

View More Articles in Press...

Uses and Abuses of JAK2 and MPL Mutation Tests in Myeloproliferative Neoplasms: A Paper from the 2010 William Beaumont Hospital Symposium on Molecular Pathology
September 2011 (Vol. 13 | No. 5 | Pages 461-466)
Ayalew Tefferi, Pierre Noel, Curtis A. Hanson
Validation and Reproducibility of a Microarray-Based Gene Expression Test for Tumor Identification in Formalin-Fixed, Paraffin-Embedded Specimens
January 2011 (Vol. 13 | No. 1 | Pages 48-56)
Raji Pillai, Rebecca Deeter, C. Ted Rigl, J. Scott Nystrom, Meredith Halks Miller, Ljubomir Buturovic, W. David Henner
A Platform for Rapid Detection of Multiple Oncogenic Mutations With Relevance to Targeted Therapy in Non–Small-Cell Lung Cancer
January 2011 (Vol. 13 | No. 1 | Pages 74-84)
Zengliu Su, Dora Dias-Santagata, MarKeesa Duke, Katherine Hutchinson, Ya-Lun Lin, Darrell R. Borger, Christine H. Chung, Pierre P. Massion, Cindy L. Vnencak-Jones, A. John Iafrate, William Pao
Molecular Methods and Platforms for Infectious Diseases Testing: A Review of FDA-Approved and Cleared Assays
November 2011 (Vol. 13 | No. 6 | Pages 583-604)
Rajyasree Emmadi, Jerry B. Boonyaratanakornkit, Rangaraj Selvarangan, Venkatakrishna Shyamala, Barbara L. Zimmer, Laurina Williams, Bonita Bryant, Ted Schutzbank, Michele M. Schoonmaker, Jean A. Amos Wilson, Leslie Hall, Preeti Pancholi, Kathryn Bernard
Genetic Tests To Evaluate Prognosis and Predict Therapeutic Response in Acute Myeloid Leukemia
January 2010 (Vol. 12 | No. 1 | Pages 3-16)
Margaret L. Gulley, Thomas C. Shea, Yuri Fedoriw

Most Read lists are compiled every quarter.

New Issue Alert

Free Trial Issue

Submit Manuscript

The American Journal of Pathology

Journal Ranking

Current impact factor: 4.219 (2010 JCR)
Current 5-year impact factor: 4.059 (2010 JCR)
Current Eigenfactor: 0.00946 (2010 JCR)

About JMD

The Journal of Molecular Diagnostics, co-published by the Association for Molecular Pathology (AMP) and the American Society for Investigative Pathology (ASIP), publishes high quality original papers on scientific advances in the translation and validation of molecular discoveries in medicine into the clinical diagnostic setting, and the description and application of technological advances in the field of molecular diagnostic medicine.

More

Access this journal onSciVerse ScienceDirect

Links of Interest

ASIP 2011 Journal CME Program

AMP 2011 Annual Meeting
November 17-19, 2011, Grapevine, Texas

Notice to Authors of NIH-Funded Articles

PathologyJobsToday.org

The Association for Molecular Pathology (AMP) was founded in 1995 to provide structure and leadership to the then-emerging field of molecular diagnostics. Since its onset, AMP has worked to develop mechanisms for training and certification in diagnostic molecular pathology and to shape regulations and policy that influence research and the practice of molecular diagnostics. The organization is divided into the scientific subdivisions of genetics, infectious diseases, hematopathology, and solid tumors. The AMP membership includes individuals from academia, government, and industry, including basic scientists, laboratory directors, medical technologists, and trainees.

Publishing Information

The Journal of Molecular Diagnostics is published by Elsevier for the Association for Molecular Pathology (AMP) and the American Society for Investigative Pathology (ASIP).