Quality-Assured Analysis of PIK3CA Mutations in Hormone Receptor –Positive/Human Epidermal Growth Factor Receptor 2–Negative Breast Cancer Tissue
In precision oncology, reliable testing of predictive molecular biomarkers is the prerequisite for optimal patient treatment. Interlaboratory comparisons are a crucial tool to verify diagnostic performance and reproducibility of one's approach. Here, we describe the design and results of the first recurrent, internationally performed PIK3CA (phosphatidylinositol-4,5-bisphosphate 3 kinase catalytic subunit α) breast cancer tissue external quality assessment (EQA), which was organized by German Quality in Pathology GmbH and started in 2021. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 30, 2024 Category: Pathology Authors: Carolin Schmidt, Robert St öhr, Lora Dimitrova, Matthias W. Beckmann, Matthias Rübner, Peter A. Fasching, Carsten Denkert, Ulrich Lehmann, Claudia Vollbrecht, Florian Haller, Arndt Hartmann, Ramona Erber Tags: Regular article Source Type: research
Quality-assured analysis of PIK3CA mutations in HR+/HER2- breast cancer tissue – A story about the need for proficiency testing for high-quality molecular biomarker reporting in precision medicine
In precision oncology, reliable testing of predictive molecular biomarkers is the prerequisite for optimal patient treatment. Interlaboratory comparisons are a crucial tool to verify diagnostic performance and reproducibility of one's approach. Here, we describe the design and results of the first recurrent, internationally performed PIK3CA Breast Cancer Tissue external quality assessment (EQA), which was organized by German Quality in Pathology (QuIP) GmbH and started in 2021. After the internal pretesting phase performed by the (lead) panel institutes, in both 2021 and 2022, each EQA test set comprised n=10 tissue sample...
Source: Journal of Molecular Diagnostics - April 30, 2024 Category: Pathology Authors: Carolin Schmidt, Robert St öhr, Lora Dimitrova, Matthias W. Beckmann, Matthias Rübner, Peter A. Fasching, Carsten Denkert, Ulrich Lehmann, Claudia Vollbrecht, Florian Haller, Arndt Hartmann, Ramona Erber Tags: Regular Article Source Type: research
A Cost-Effective and Labor-Saving Method for Detecting Human Leukocyte Antigen B27 Status via Sequence-Encoded Fluorescence Amplification Assay
Identification of human leukocyte antigen B27 (HLA-B27) by flow cytometry (FCM) has been widely applied in clinical practice for auxiliary diagnosis of ankylosing spondylitis (AS). However, FCM requires freshly prepared samples and relies on expensive equipment, reagents, and an experienced operator. To provide a cheaper and more convenient method for HLA-B27 detection, we proposed a new method termed sequence-encoded fluorescence amplification assay (SEFA), which specially recognized sequences of HLA-B27 gene (HLA-B ∗27) covering current common subtypes in a single closed tube. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 25, 2024 Category: Pathology Authors: Nan Sheng, Li Zhao, Shuyun Pang, Wenwen Wang, Panfeng Feng, Jing Zhao, Xiaoxiang Chen, Yingying Gao Tags: Regular article Source Type: research
A cost-effective and labor-saving method for detecting HLA-B27 status via sequence-encoded fluorescence amplification assay
Identification of Human leukocyte antigen B27 (HLA-B27) by flow cytometry (FCM) has been widely applied in clinical practice for auxiliary diagnosis of ankylosing spondylitis (AS). However, FCM requires fresh-prepared samples and relies on expensive equipment, reagents, and experienced operator. To provide a cheaper and more convenient method for HLA-B27 detection, we proposed a new method termed sequence-encoded fluorescence amplification assay (SEFA), which specially recognized sequences of HLA-B27 gene (HLA-B*27) covering current common subtypes in a single closed tube. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 25, 2024 Category: Pathology Authors: Nan Sheng, Li Zhao, Shuyun Pang, Wenwen Wang, Panfeng Feng, Jing Zhao, Xiaoxiang Chen, Yingying Gao Tags: Regular Article Source Type: research
A Streamlined PENK Methylation Test in Urine DNA, EarlyTect BCD, Effectively Detects Bladder Cancer in Hematuria Patients
This study aims to evaluate the validity of a streamlined urine-based PENK methylation test called EarlyTect BCD in detecting BC in hematuria patients scheduled for cystoscopy in Korean and American populations. The test seamlessly integrates two steps, linear target enrichment, and quantitative methylation-specific PCR within a single closed tube. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 25, 2024 Category: Pathology Authors: Bo-Ram Bang, Jin Zhong, Tae Jeong Oh, Ji Yong Lee, Yangyei Seo, Min A. Woo, Jae Sung Lim, Yong Gil Na, Ki Hak Song, Ju Hyun Shin, Justin Junguek Lee, Chan Su Im, Seoyong Kim, Safedin Beqaj, Joseph D. Shirk, Katelyn W. Ke, John Vallone, Sungwhan An Tags: Regular Article Source Type: research
Performance Characteristics of a Real-Time PCR assay for Direct Detection of Streptococcus pneumoniae in Clinical Specimens
Community-acquired pneumonia and complications, such as bacteremia and meningitis due to Streptococcus pneumoniae infection, still occur in at-risk populations, despite the availability of effective vaccines. Laboratory confirmation of S. pneumoniae remains challenging despite advances in blood culture techniques and the availability of nucleic acid amplification tests. The goal of this study was to determine the performance characteristics of a molecular assay designed as a diagnostic test using primary clinical specimens for invasive pneumococcal disease. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 24, 2024 Category: Pathology Authors: Subathra Marimuthu, Rocio Belen Damiano, Leslie A. Wolf Tags: Regular Article Source Type: research
Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles
Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (eg, copy number variations, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO) –based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 23, 2024 Category: Pathology Authors: Bo Gao, Yi Jiang, Mingyu Han, Xiaowen Ji, Dejun Zhang, Lihua Wu, Xue Gao, Shasha Huang, Chaoyue Zhao, Yu Su, Suyan Yang, Xin Zhang, Na Liu, Lu Han, Lihai Wang, Lina Ren, Jinyuan Yang, Jian Wu, Yongyi Yuan, Pu Dai Tags: Regular Article Source Type: research
Targeted linked-read sequencing for direct haplotype phasing of parental GJB2/SLC26A4 alleles: A universal and dependable noninvasive prenatal diagnosis method applied to autosomal recessive nonsyndromic hearing loss in at-risk families
Noninvasive prenatal diagnosis (NIPD) for autosomal recessive nonsyndromic hearing loss (ARNSHL) has been rarely reported until recent years. However, the previous method could not be performed on challenging genome loci (e.g. CNVs, deletions, inversions, or gene recombinants) or on families without proband genotype. Here, this study assesses the performance of relative haplotype dosage analysis (RHDO)-based NIPD for identifying fetal genotyping in pregnancies at risk of ARNSHL. Fifty couples carrying pathogenic variants associated with ARNSHL in either GJB2 or SLC26A4 were recruited. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 23, 2024 Category: Pathology Authors: Bo Gao, Yi Jiang, Mingyu Han, Xiaowen Ji, Dejun Zhang, Lihua Wu, Xue Gao, Shasha Huang, Chaoyue Zhao, Yu Su, Suyan Yang, Xin Zhang, Na Liu, Lu Han, Lihai Wang, Lina Ren, Jinyuan Yang, Jian Wu, Yongyi Yuan, Pu Dai Tags: Regular Article Source Type: research
Editorial Board
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 17, 2024 Category: Pathology Source Type: research
Table of Contents
(Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 17, 2024 Category: Pathology Source Type: research
Cost-effective and scalable clonal hematopoiesis assay provides insight into clonal dynamics
In this study, an affordable ( ∼$8 per sample), accurate, and scalable sequencing assay for CHIP is introduced and validated. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 6, 2024 Category: Pathology Authors: Taralynn Mack, Caitlyn Vlasschaert, Kelly von Beck, Alexander J. Silver, J. Brett Heimlich, Hannah Poisner, Henry Robert Condon, Jessica Ulloa, Andrew L. Sochacki, Travis P. Spaulding, Ashwin Kishtagari, Cosmin A. Bejan, Yaomin Xu, Michael R. Savona, Ange Tags: Regular Article Source Type: research
Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies
Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphologic, immunophenotypic, and clinical features. Next-generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high-value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies, including pre-analytic issues, such as sequencing DNA from formalin-fixed, paraffin-embedded tissue, and optimizing the bioinformatic workflow for accurate vari...
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Cody J. Artymiuk, Shubham Basu, Tejaswi Koganti, Pratyush Tandale, Jagadheshwar Balan, Michelle A. Dina, Emily G. Barr Fritcher, Xianglin Wu, Taylor Ashworth, Rong He, David S. Viswanatha Tags: Regular article Source Type: research
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent
We reported pathogenic or likely pathogenic variants in 280 of 833 cases with a diagnostic yield of 33.6%. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darv Tags: Regular article Source Type: research
Focused Exome Sequencing Gives a High Diagnostic Yield in The Indian Sub-Continent
We reported pathogenic or likely pathogenic variants in 280 out of 833 cases with a diagnostic yield of 33.6%. (Source: Journal of Molecular Diagnostics)
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darv Tags: Regular Article Source Type: research
Clinical Validation of a Targeted Next Generation Sequencing Panel for Lymphoid Malignancies
Lymphoid malignancies are a heterogeneous group of hematological disorders characterized by a diverse range of morphological, immunophenotypic and clinical features. Next generation sequencing (NGS) is increasingly being applied to delineate the complex nature of these malignancies and identify high value biomarkers with diagnostic, prognostic, or therapeutic benefit. However, there are various challenges in using NGS routinely to characterize lymphoid malignancies including pre-analytic issues such as sequencing DNA from formalin-fixed paraffin-embedded tissue and optimizing the bioinformatic workflow for accurate variant...
Source: Journal of Molecular Diagnostics - April 4, 2024 Category: Pathology Authors: Cody J. Artymiuk, Shubham Basu, Tejaswi Koganti, Pratyush Tandale, Jagadheshwar Balan, Michelle A. Dina, Emily G. Barr Fritcher, Xianglin Wu, Taylor Ashworth, Rong He, David S. Viswanatha Tags: Regular Article Source Type: research
