Categoría: The Journal of Molecular Diagnostics
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Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers
Whole-genome sequencing (WGS) is a comprehensive approach for the genomic evaluation of acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS). We recently described a streamlined tumor-only WGS assay (ChromoSeq) that uses Illumina short-read…
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Developing Consensus for a More Provider-Friendly Next-Generation Sequencing Molecular Biomarker Report
Despite the increasing availability of next-generation sequencing (NGS) gene panel analysis for cancers, published reports suggest underutilization of testing, citing the shortage of credentialed professionals available to assist with the interpretatio…
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Analytical Validation of a Pan-Cancer Next-Generation Sequencing Assay for In-House Liquid Biopsy Testing
Liquid biopsy assays are transforming precision oncology by providing a less invasive alternative to tissue biopsies. These assays screen for tumor genetic alterations in circulating free DNA, which typically requires detecting variants at low allele f…
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Validation and Clinical Utility of a Pan-Cancer Circulating Tumor DNA Assay as a First-Approach Test
The feasibility of circulating tumor (ct)-DNA assays in first-approach pan-cancer genomic profiling is not well established. Furthermore, low ctDNA levels limit assay sensitivity, which challenges adaptation to clinical genomic profiling. In this study…
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TAG-CLL, a Novel Tagmentation-Based Approach to Somatic Hypermutation Testing of IGHV Reveals the Weak Points of Both Sanger and Next-Generation Sequencing Methods
Somatic hypermutation (SHM) status of IGHV gene, despite being a mature diagnostic biomarker in chronic lymphocytic leukemia (CLL), poses serious methodological problems for molecular laboratories. They may choose between inefficient Sanger sequencing …
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Performance Evaluation of the Aptima hrHPV Nucleic Acid Amplification and Papanicolaou Co-Testing in Cervical Cancer Screening
Cervical cancer screening is evolving, with guidelines increasingly favoring high-risk human papillomavirus (hrHPV) nucleic acid amplification tests (NAATs) as a primary method. Although hrHPV NAATs offer high sensitivity for HPV-driven cervical cancer…
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Next-Generation Sequencing–Based T-Cell Receptor Gene Rearrangement Analysis in Nodal T Follicular Helper Cell Lymphoma, a Comparison with the EuroClonality/BIOMED-2 Assay
Nodal T follicular helper cell lymphoma (nTFHL) can be difficult to diagnose because it often shows features of immune dysregulation and can have a low number of neoplastic T cells in involved lymph nodes. The analysis of T-cell receptor (TR) gene rear…
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Analytical validation of a 37-gene next generation sequencing panel for myeloid malignancies and review of initial findings, including reclassification of Acute Myeloid Leukemias and Myelodysplastic Syndromes using the 2022 WHO/ICC/ELN guidelines
Myeloid neoplasms are clonal disorders that arise via acquisition of genetic mutations leading to excessive proliferation and defective differentiation. Mutational profiling is vital as it has implications on diagnosis, prognosis, and therapeutic decis…