Clinical Validation of a Targeted Next-Generation Sequencing Panel for Lymphoid Malignancies

被引：1

作者：

Artymiuk, Cody J. ^{[1
]}

Basu, Shubham ^{[2
]}

Koganti, Tejaswi ^{[2
]}

Tandale, Pratyush ^{[2
]}

Balan, Jagadheshwar ^{[2
]}

Dina, Michelle A. ^{[1
]}

Fritcher, Emily G. Barr ^{[3
]}

Wu, Xianglin ^{[4
]}

Ashworth, Taylor ^{[4
]}

He, Rong ^{[5
]}

Viswanatha, David S. ^{[5
]}

机构：

[1] Mayo Clin, Mol Hematopathol Lab, Rochester, MN USA

[2] Mayo Clin, Quantitat Hlth Sci, Rochester, MN USA

[3] Mayo Clin, Mol Anat Pathol, Rochester, MN USA

[4] Mayo Clin, Clin Genome Sequencing Lab, Rochester, MN USA

[5] Mayo Clin, Hematopathol Div, Rochester, MN USA

来源：

JOURNAL OF MOLECULAR DIAGNOSTICS | 2024年 / 26卷 / 07期

关键词：

HEALTH-ORGANIZATION CLASSIFICATION; SOMATIC MUTATIONS; BRAF MUTATIONS; 2016; REVISION; CAPTURE; SF3B1; PATHOGENESIS; GUIDELINES; LANDSCAPE; SURVIVAL;

D O I：

10.1016/j.jmoldx.2024.03.008

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

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 variant calling and filtering. This study reports the clinical validation of a custom capture-based NGS panel to test for molecular markers in a range of lymphoproliferative diseases and histiocytic neoplasms. The fully validated clinical assay represents an accurate and sensitive tool for detection of single-nucleotide variants and small insertion/deletion events to facilitate the characterization and management of patients with hematologic cancers specifically of lymphoid origin. (J Mol Diagn 2024, 26: 583-598; https://doi.org/10.1016/j.jmoldx.2024.03.008)

引用

页码：583 / 598

页数：16

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