Analytic Validation of Optical Genome Mapping in Hematological Malignancies

Biomedicines, Journal Year: 2023, Volume and Issue: 11(12), P. 3263 - 3263

Published: Dec. 9, 2023

Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence situ hybridization (FISH), which have been employed globally for past three decades, significant limitations terms resolution number recurrent aberrations that can be simultaneously assessed, respectively. Next-generation sequencing (NGS)-based technologies are now widely used to detect clinically sequence variants but limited their ability accurately SVs. Optical genome mapping (OGM) is an emerging technology enabling genome-wide detection all classes SVs at significantly higher than FISH. OGM requires neither cultured cells nor amplification DNA, addressing culture biases. This study reports clinical validation laboratory-developed test (LDT) according stringent regulatory (CAP/CLIA) guidelines SV different In total, 60 cases with malignancies (of various subtypes), 18 controls, 2 cancer cell lines were this study. Ultra-high-molecular-weight DNA was extracted from samples, fluorescently labeled, run on Bionano Saphyr system. A total 215 datasets, Inc.luding replicates, generated, analyzed successfully. Sample data then using either disease-specific or pan-cancer-specific BED files prioritize calls known diagnostically prognostically relevant. Sensitivity, specificity, reproducibility 100%, 96%, Following validation, 14 10 controls outside laboratories showing 96.4%. found more relevant compared SOC testing due its resolution. The results demonstrate superiority over traditional accurate diagnosis

Language: Английский

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Cytogenetics in the management of hematological malignancies: An overview of alternative technologies for cytogenetic characterization

Current Research in Translational Medicine, Journal Year: 2024, Volume and Issue: 72(3), P. 103440 - 103440

Published: Jan. 13, 2024

Genomic characterization is an essential part of the clinical management hematological malignancies for diagnostic, prognostic and therapeutic purposes. Although CBA FISH are still gold standard in hematology detection CNA SV, some alternative technologies intended to complement their deficiencies or even replace them more less near future. In this article, we provide a technological overview these alternatives. CMA historical well established technique high-resolution CNA. For SV detection, there emerging techniques based on study chromatin conformation ones such as RTMLPA fusion transcripts RNA-seq reveal molecular consequences SV. Comprehensive that detect both most interesting because they all information single examination. Among these, OGM promising higher-solution offers complete solution at contained cost, expense relatively low throughput per machine. WGS remains adaptable solution, with long-read approaches enabling very CAs, but requiring heavy bioinformatics installation high cost. However, development genome-wide CAs allows much better description chromoanagenesis. Therefore, have included review update various existing mechanisms implications, especially prognostic, malignancies.

Language: Английский

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TP53 mutations in myeloid neoplasms: implications for accurate laboratory detection, diagnosis, and treatment

Laboratory Medicine, Journal Year: 2024, Volume and Issue: 55(6), P. 686 - 699

Published: July 13, 2024

Abstract Genetic alterations that affect the function of p53 tumor suppressor have been extensively investigated in myeloid neoplasms, revealing their significant impact on disease progression, treatment response, and patient outcomes. The identification characterization TP53 mutations play pivotal roles subclassifying neoplasms guiding decisions. Starting with presentation a typical case, this review highlights complicated nature genetic involving provides comprehensive analysis other neoplasms. Currently available methods used clinical laboratories to identify are discussed, focusing importance establishing robust testing protocol within ensure delivery accurate reliable results. implications trial options reviewed. Ultimately, we hope valuable insights into patterns offers guidance establish practical laboratory protocols support best practices precision oncology.

Language: Английский

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Comparison of Optical Genome Mapping With Conventional Diagnostic Methods for Structural Variant Detection in Hematologic Malignancies

Annals of Laboratory Medicine, Journal Year: 2024, Volume and Issue: 44(4), P. 324 - 334

Published: March 4, 2024

Yeeun Shim, M.S., Yu-Kyung Koo, M.D., Saeam Shin, Ph.D., Seung-Tae Lee, Kyung-A and Jong Rak Choi, Ph.D.. Ann Lab Med -0001;0:. https://doi.org/10.3343/alm.2023.0339

Language: Английский

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Optical Genome Mapping for Comprehensive Assessment of Chromosomal Aberrations and Discovery of New Fusion Genes in Pediatric B-Acute Lymphoblastic Leukemia

Cancers, Journal Year: 2022, Volume and Issue: 15(1), P. 35 - 35

Published: Dec. 21, 2022

To assess the potential added value of Optical Genomic Mapping (OGM) for identifying chromosomal aberrations.

Language: Английский

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