miR122 and miR21 are stable components of miRNA signatures of early lung cancer after validation in three independent cohorts.
Several panels of circulating miRNAs have been reported as potential biomarkers of early lung cancer, yet the overlap of components between different panels is limited and the universality of proposed biomarkers has been minimal across proposed panels. To assess the stability of the diagnostic potential of plasma miRNA signature of early lung cancer among different cohorts, a panel of 24 miRNAs tested in the frame of one lung cancer screening study (MOLTEST-2013, Poland) was validated with material collected in the frame of two other screening studies (MOLTEST-BIS, Poland and SMAC, Italy) using the same standardized analyt...
Source: Journal of Molecular Diagnostics - October 19, 2023 Category: Pathology Authors: Joanna Zyla, Rafal Dziadziuszko, Michal Marczyk, Magdalena Sitkiewicz, Magdalena Szczepanowska, Edoardo Bottoni, Giulia Veronesi, Witold Rzyman, Joanna Polanska, Piotr Widlak Tags: Regular Article Source Type: research
Production and Performance Assessment of a Severe Acute Respiratory Syndrome Coronavirus 2 Biomimetic in a Verification Program for Pandemic Readiness
This study reports the development and application of a noninfectious SARS-CoV-2 biomimetic Mycobacterium smegmatis strain that mimics a positive result in the GeneXpert SARS-CoV-2 Xpert Xpress cartridge. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 18, 2023 Category: Pathology Authors: Edith Erika Machowski, Anna Esther Reyneke, Dean Evan Sher, Bavesh Davandra Kana Tags: Regular article Source Type: research
A new set of in silico tools to support the interpretation of ATM missense variants using graphical analysis
Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classifications is still an unsolved problem. Here, this challenge is addressed, extending the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by healthcare professionals.We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. (Source: Journal ...
Source: Journal of Molecular Diagnostics - October 18, 2023 Category: Pathology Authors: Luz Marina Porras, Natalia Padilla, Alejandro Moles-Fern ández, Lidia Feliubadaló, Marta Santamariña-Pena, Alysson T. Sánchez, Anael López-Novo, Ana Blanco, Miguel de la Hoya, Ignacio J. Molina, Ana Osorio, Marta Pineda, Daniel Rueda, Clara Ruiz-Pont Tags: Regular Article Source Type: research
Production and performance assessment of a SARS-CoV-2 biomimetic in a verification program for pandemic readiness
This study reports the development and application of a non-infectious SARS-CoV-2 biomimetic Mycobacterium smegmatis strain that mimics a positive result in the GeneXpert SARS-CoV-2 Xpert Xpress cartridge. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 18, 2023 Category: Pathology Authors: Edith Erika Machowski, Anna Esther Reyneke, Dean Evan Sher, Bavesh Davandra Kana Tags: Regular Article Source Type: research
Clinical Validation of FusionPlex RNA Sequencing and Its Utility in the Diagnosis and Classification of Hematologic Neoplasms
In this study, we validated the FusionPlex Pan-Heme panel analysis using anchored multiplex PCR/targeted RNA next-generation sequencing for routine clinical testing. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 7, 2023 Category: Pathology Authors: Xueyan Chen, Wenjing Wang, Jeffrey Yeh, Yu Wu, Vivian G. Oehler, Kikkeri N. Naresh, Yajuan J. Liu Tags: Regular article Source Type: research
Impact of cell-debris and room-temperature storage on urine circulating tumor DNA from hepatocellular carcinoma
This study evaluated the impact of cell debris and 7-day room temperature (RT) storage on the quality and yield of transrenal DNA. Archived urine specimens collected from five hepatocellular carcinoma (HCC) patients and two pregnant women (PG) carrying male fetuses were used to assess the impact of cell-debris on urine cell-free DNA (ucfDNA) isolation as measured by quantitative PCR (qPCR) for Y-chromosome (Y-Chr) DNA, or HCC-associated mutation and methylation markers, and by capillary electrophoresis. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 7, 2023 Category: Pathology Authors: Amy K. Kim, Selena Y. Lin, Zhili Wang, Harry Luu, James P. Hamilton, Wei Song, Ying-Hsiu Su Tags: Regular Article Source Type: research
Droplet digital pcr for oncogenic kmt2a fusion detection
Acute myeloid leukemia (AML) is an aggressive blood cancer diagnosed in ∼120,000 individuals worldwide each year. During treatment for AML, detecting residual disease is essential for prognostication and treatment decision-making. Currently, methods for detecting residual AML are limited to identifying ∼1:100-1:1,000 leukemic cells (morphology, DNA sequencing) or di fficult to implement (flow cytometry). AML arising after chemotherapy or radiation exposure is termed therapy-related AML (t-AML) and is exceptionally aggressive and treatment resistant. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 7, 2023 Category: Pathology Authors: Andrew L. Young, Hannah C. Davis, Grant A. Challen Tags: Technical Advance Source Type: research
Clinical validation of FusionPlex RNA-sequencing and its utility in the diagnosis and classification of hematologic neoplasms
In this study, we validated the FusionPlex pan-Heme panel analysis using anchored multiplex PCR/targeted RNA next-generation sequencing for routine clinical testing. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 7, 2023 Category: Pathology Authors: Xueyan Chen, Wenjing Wang, Jeffrey Yeh, Yu Wu, Vivian G. Oehler, Kikkeri N. Naresh, Yajuan J. Liu Tags: Regular Article Source Type: research
The Comparison of Two Whole-Genome Amplification Approaches for Noninvasive Preimplantation Genetic Testing (ni-PGT) and the Application Scenario of ni-PGT during the Fresh Cycle
Recently, noninvasive preimplantation genetic testing (ni-PGT) using degenerate oligonucleotide primer PCR (DOP-PCR) and multiple annealing and looping-based amplification cycle (MALBAC) –based whole-genome amplification (WGA) methods has demonstrated predictable results in embryo testing. However, a considerable heterogeneity of results has been reported in numerous studies on these two WGA methods. The aim of this study was to evaluate the current WGA method for ni-PGT while fur ther clarifying the applicable scenarios of ni-PGT in the fresh cycle. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 6, 2023 Category: Pathology Authors: Zhixin Hu, Yonggang Li, Kexin Chen, Mingying Li, Mei Tian, Lifeng Xiang, Xiaorong Wu, Peng Zeng, Minyao Li, Jingyi Shao, Lei Li, Na Lin, Lu Tang, Lian Deng, Mengying Gao, Yunxiu Li, Li Zhong, Mei Wang, Jiacong Yan, Ze Wu Tags: Regular article Source Type: research
Recommendations for Cell-Free DNA Assay Validations
Diagnosing, selecting therapy for, and monitoring cancer in patients using a minimally invasive blood test represents a significant advance in precision medicine. Wide variability exists in how circulating tumor DNA (ctDNA) assays are developed, validated, and reported in the literature, which hinders clinical adoption and may negatively impact patient care. Standardization is needed for factors affecting ctDNA assay performance and reporting, including pre-analytical variables, analytical considerations, and elements of laboratory assay reporting. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 6, 2023 Category: Pathology Authors: Christina M. Lockwood, Laetitia Borsu, Milena Cankovic, Jonathan S.L. Earle, Christopher D. Gocke, Meera Hameed, Danielle Jordan, Jean R. Lopategui, Mrudula Pullambhatla, Jacquelyn Reuther, Kandelaria M. Rumilla, Laura J. Tafe, Robyn L. Temple-Smolkin, Pa Tags: Special article Source Type: research
Recommendations for Cell-free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists
Diagnosing, selecting therapy for, and monitoring cancer in patients using a minimally invasive blood test represents a significant advance in precision medicine. Wide variability exists in how circulating tumor DNA (ctDNA) assays are developed, validated, and reported in the literature, which hinders clinical adoption and may negatively impact patient care. Standardization is needed for factors affecting ctDNA assay performance and reporting, including pre-analytical variables, analytical considerations, and elements of laboratory assay reporting. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 6, 2023 Category: Pathology Authors: Christina M. Lockwood, Laetitia Borsu, Milena Cankovic, Jonathan S.L. Earle, Christopher D. Gocke, Meera Hameed, Danielle Jordan, Jean R. Lopategui, Mrudula Pullambhatla, Jacquelyn Reuther, Kandelaria M. Rumilla, Laura J. Tafe, Robyn L. Temple-Smolkin, Pa Tags: Special Article Source Type: research
The comparison of two whole genome amplification approaches for non-invasive preimplantation genetic testing(ni-PGT) and the application scenario of ni-PGT during the fresh cycle
Recently, non-invasive preimplantation genetic testing (ni-PGT) using DOP-PCR and MALBAC-based whole genome amplification (WGA) methods has demonstrated predictable results in embryo testing. However, a considerable heterogeneity of results has been reported in numerous studies on these two WGA methods. The aim of this study was to evaluate the current WGA method for ni-PGT while further clarifying the applicable scenarios of ni-PGT in the fresh cycle. A total of 173 embryos were tested with trophectoderm (TE) biopsy and ni-PGT. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - October 6, 2023 Category: Pathology Authors: Zhixin Hu, Yonggang Li, Kexin Chen, Mingying Li, Mei Tian, Lifeng Xiang, Xiaorong Wu, Peng Zeng, Minyao Li, Jingyi Shao, Lei Li, Na Lin, Lu Tang, Lian Deng, Mengying Gao, Yunxiu Li, Li Zhong, Mei Wang, Jiacong Yan, Ze Wu Tags: Regular Article Source Type: research
Exploring the Utility of Multiplex Infectious Disease Panel Testing for Diagnosis of Infection in Different Body Sites: A Joint Report of the Association for Molecular Pathology, American Society for Microbiology, Infectious Diseases Society of America, and Pan American Society for Clinical Virology
The utilization of clinical molecular diagnostic methods for detecting microbial pathogens continues to expand and, in some cases, supplant conventional identification methods in various scenarios. Analytical and clinical benefits of multiplex molecular panels for the detection of respiratory pathogens have been demonstrated in various studies. The use of these panels in managing different patient populations has been incorporated into clinical guidance documents. The Association for Molecular Pathology ’s Infectious Diseases Multiplex Working Group conducted a review of the current benefits and challenges to using multi...
Source: Journal of Molecular Diagnostics - September 25, 2023 Category: Pathology Authors: Michael A. Lewinski, Kevin Alby, N. Esther Babady, Susan M. Butler-Wu, Jennifer Dien Bard, Alexander L. Greninger, Kimberly Hanson, Samia N. Naccache, Duane Newton, Robyn L. Temple-Smolkin, Frederick Nolte Tags: Special Article Source Type: research
Realizing the Dream of Precision Oncology
As molecularly informed oncology care has increasingly become standard practice for patients with cancer, society must prioritize equitable access to genetic testing that guides subsequent care. Despite the availability of genomic testing laboratories, published guidelines, US Food and Drug Administration –approved targeted therapies, financial assistance programs, and clinical decision tools, precision medicine remains out of reach for many patients. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - September 23, 2023 Category: Pathology Authors: Yaolin Zhou Tags: Guest editorial Source Type: research
Realizing the Dream of Precision Oncology: A Solution for All Patients
Note: No patient information was collected or utilized for this Guest Editorial article, which represents the opinions of the author and does not necessarily reflect the views or positions of any entities they represent. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - September 23, 2023 Category: Pathology Authors: Yaolin Zhou Tags: Guest Editorial Source Type: research
