Journal of Molecular Diagnostics最新文献_第10页

Next-Generation Sequencing Trends among Adult Patients with Select Advanced Tumor Types 特定晚期肿瘤成人患者的新一代测序趋势：真实世界证据评估

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-02-01 DOI: 10.1016/j.jmoldx.2024.01.005

Andrea Ferreira-Gonzalez , Brian Hocum , Gilbert Ko , Sohul Shuvo , Sreevalsa Appukkuttan , Svetlana Babajanyan

{"title":"Next-Generation Sequencing Trends among Adult Patients with Select Advanced Tumor Types","authors":"Andrea Ferreira-Gonzalez , Brian Hocum , Gilbert Ko , Sohul Shuvo , Sreevalsa Appukkuttan , Svetlana Babajanyan","doi":"10.1016/j.jmoldx.2024.01.005","DOIUrl":"10.1016/j.jmoldx.2024.01.005","url":null,"abstract":"<div><p>There are limited data on the prevalence of next-generation sequencing (NGS) in the United States, especially in light of the increasing importance of identifying actionable oncogenic variants due to molecular biomarker–based therapy approvals. This retrospective study of adult patients with select metastatic solid tumors and central nervous system tumors from the Optum Clinformatics Data Mart US health care claims database (January 1, 2014, to June 30, 2021; <em>N</em> = 63,209) examined NGS use trends over time. A modest increase in NGS was observed across tumor types from 2015 (0.0% to 1.5%) to 2021 (2.1% to 17.4%). A similar increase in NGS rates was also observed across key periods; however, rates in the final key period remained <10% for patients with breast, colorectal, head and neck, soft tissue sarcoma, and thyroid cancers, as well as central nervous system tumors. The median time to NGS from diagnosis was shortest among patients with non–small-cell lung cancer and longest for patients with breast cancer. Predictors of NGS varied by tumor type; test rates for minorities in select tumor types appeared comparable to the White population. Despite improving payer policies to expand coverage of NGS and molecular biomarker–based therapy approvals, NGS rates remained low across tumor types. Given the potential for improved patient outcomes with molecular biomarker–based therapy, further efforts to improve NGS rates are warranted.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 4","pages":"Pages 292-303"},"PeriodicalIF":4.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1525157824000114/pdfft?md5=f6bc1fb11cec3cd2e9b7bcb8752465d9&pid=1-s2.0-S1525157824000114-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139669076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Engraftment and Measurable Residual Disease Monitoring after Hematopoietic Stem Cell Transplantation 造血干细胞移植后的移植和可测量残留疾病监测--两种嵌合体检测策略的比较：下一代测序与短串联重复序列和定量 PCR 的组合

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-02-01 DOI: 10.1016/j.jmoldx.2024.01.007

Aiwen Zhang , Stacey Macecevic , Dawn Thomas , Jeffrey Allen , Sarah Mandley , Paul Kawczak , Raymond Jurcago , Jennifer Tyler , Heather Casey , David Bosler , Ronald Sobecks , Betty Hamilton , Craig Sauter , Shin Mineishi , David Claxton , Hiroko Shike

{"title":"Engraftment and Measurable Residual Disease Monitoring after Hematopoietic Stem Cell Transplantation","authors":"Aiwen Zhang , Stacey Macecevic , Dawn Thomas , Jeffrey Allen , Sarah Mandley , Paul Kawczak , Raymond Jurcago , Jennifer Tyler , Heather Casey , David Bosler , Ronald Sobecks , Betty Hamilton , Craig Sauter , Shin Mineishi , David Claxton , Hiroko Shike","doi":"10.1016/j.jmoldx.2024.01.007","DOIUrl":"10.1016/j.jmoldx.2024.01.007","url":null,"abstract":"<div><p>Chimerism testing supports the study of engraftment and measurable residual disease (MRD) in patients after allogeneic hematopoietic stem cell transplant. In chimerism MRD, relapse can be predicted by increasing mixed chimerism (IMC), recipient increase ≥0.1% in peripheral blood, and proliferating recipient cells as a surrogate of tumor activity. Conventionally, the combination of short-tandem repeat (STR) and quantitative PCR (qPCR) was needed to ensure assay sensitivity and accuracy in all chimerism status. We evaluated the use of next-generation sequencing (NGS) as an alternate technique. The median numbers of informative markers in unrelated/related cases were 124/82 (NGS; from 202 single-nucleotide polymorphism), 5/3 (qPCR), and 17/10 (STR). Assay sensitivity was 0.22% (NGS), 0.1% (qPCR), and 1% (STR). NGS batch (4 to 48 samples) required 19.60 to 24.80 hours and 1.52 to 2.42 hours of hands-on time (comparable to STR/qPCR). NGS assay cost/sample was $91 to $151, similar to qPCR ($99) but higher than STR ($27). Using 56 serial DNAs from six post-transplant patients monitored by the qPCR/STR, the correlation with NGS was strong for percentage recipient (<em>y</em> = 1.102<em>x</em> + 0.010; <em>R</em><sup>2</sup> = 0.968) and percentage recipient change (<em>y</em> = 0.892<em>x</em> + 0.041; <em>R</em><sup>2</sup> = 0.945). NGS identified all 17 IMC events detected by qPCR (100% sensitivity). The NGS chimerism provides sufficient sensitivity, accuracy, and economical/logistical feasibility in supporting engraftment and MRD monitoring.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 4","pages":"Pages 233-244"},"PeriodicalIF":4.1,"publicationDate":"2024-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139669729","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Defining an Optimized Workflow for Enriching and Analyzing Residual Tumor Populations Using Intracellular Markers 确定利用细胞内标记物富集和分析残余肿瘤群体的优化工作流程。

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-26 DOI: 10.1016/j.jmoldx.2024.01.003

Eve M. Coulter , Findlay Bewicke-Copley , Maximilian Mossner , Trevor A. Graham , Jude Fitzgibbon , Jessica Okosun

{"title":"Defining an Optimized Workflow for Enriching and Analyzing Residual Tumor Populations Using Intracellular Markers","authors":"Eve M. Coulter , Findlay Bewicke-Copley , Maximilian Mossner , Trevor A. Graham , Jude Fitzgibbon , Jessica Okosun","doi":"10.1016/j.jmoldx.2024.01.003","DOIUrl":"10.1016/j.jmoldx.2024.01.003","url":null,"abstract":"<div><p>Tumor relapse is well recognized to arise from treatment-resistant residual populations. Strategies enriching such populations for in-depth downstream analyses focus on tumor-specific surface markers; however, enrichment using intracellular biomarkers remains challenging. Using B-cell lymphoma as an exemplar, we demonstrate feasibility to enrich B-cell lymphoma 2 (BCL2)<sup>high</sup> populations, a surrogate marker for t(14;18)+ lymphomas, for use in downstream applications. Different fixation protocols were assessed for impact on antibody expression and RNA integrity; glyoxal fixation demonstrated superior results regarding minimal effects on surface and intracellular expression, and RNA quality, compared with alternative fixatives evaluated. Furthermore, t(14;18)+ B cells were effectively detected using intracellular BCL2 overexpression to facilitate tumor cell enrichment. Tumor cell populations were enriched using the cellenONE F1.4 single-cell sorting platform, which detected and dispensed BCL2<sup>high</sup>-expressing cells directly into library preparation reagents for transcriptome analyses. Sorted glyoxal-fixed cells generated good quality sequencing libraries, with high concordance between live and fixed single-cell transcriptomic profiles, discriminating cell populations predominantly on B-cell biology. Overall, we successfully developed a proof-of-concept workflow employing a robust cell preparation protocol for intracellular markers combined with cell enrichment using the cellenONE platform, providing an alternative to droplet-based technologies when cellular input is low or requires prior enrichment to detect rare populations. This workflow has wider prognostic and therapeutic potential to study residual cells in a pan-cancer setting.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 4","pages":"Pages 245-256"},"PeriodicalIF":4.1,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1525157824000084/pdfft?md5=fc98abc027fdd670905c30e24b5f2da3&pid=1-s2.0-S1525157824000084-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing 通过整合外显子组和转录子组测序鉴定单基因疾病中的同义致病变异。

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-26 DOI: 10.1016/j.jmoldx.2023.12.005

Lin Zhang , Haijuan Lou , Yanhong Huang , Liping Dong , Xueye Gong , Xiaoning Zhang , Wenqi Bao , Rui Xiao

{"title":"Identification of Synonymous Pathogenic Variants in Monogenic Disorders by Integrating Exome with Transcriptome Sequencing","authors":"Lin Zhang , Haijuan Lou , Yanhong Huang , Liping Dong , Xueye Gong , Xiaoning Zhang , Wenqi Bao , Rui Xiao","doi":"10.1016/j.jmoldx.2023.12.005","DOIUrl":"10.1016/j.jmoldx.2023.12.005","url":null,"abstract":"<div><p>Exome sequencing is becoming a first-tier clinical diagnostic test for Mendelian diseases, drastically reducing the time and cost of diagnostic odyssey and improving the diagnosis rate. Despite its success, exome sequencing faces practical challenges in assessing the pathogenicity of numerous intronic and synonymous variants, leaving a significant proportion of patients undiagnosed. In this study, a whole-blood transcriptome database was constructed that showed the expression profile of 2981 Online Mendelian Inheritance in Man disease genes in blood samples. Meanwhile, a workflow integrating exome sequencing, blood transcriptome sequencing, and <em>in silico</em> prediction tools to identify and validate splicing-altering intronic or synonymous variants was proposed. Following this pipeline, seven synonymous variants in eight patients were discovered. Of these, the functional evidence of c.981G>A (<em>PIGN</em>), c.1161A>G (<em>ALPL</em>), c.858G>A (<em>ATP6AP2</em>), and c.1011G>T (<em>MTHFR</em>) have not been reported previously. RNA sequencing validation confirmed that these variants induced aberrant splicing, expanding the disease-causing variant spectrum of these genes. Overall, this study shows the feasibility of combining multi-omics data to identify splicing-altering variants, especially the power of RNA sequencing. It also reveals that synonymous variants, which often are overlooked in standard diagnostic approaches, comprise an important portion of unresolved genetic diseases.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 4","pages":"Pages 267-277"},"PeriodicalIF":4.1,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas 原发性卵巢浆液性边界肿瘤和低级别浆液性癌的体细胞基因组和转录组特征。

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-26 DOI: 10.1016/j.jmoldx.2023.12.004

Ivana Stružinská , Nikola Hájková , Jan Hojný , Eva Krkavcová , Romana Michálková , Quang Hiep Bui , Radoslav Matěj , Jan Laco , Jana Drozenová , Pavel Fabian , Petr Škapa , Zuzana Špůrková , David Cibula , Filip Frühauf , Tomáš Jirásek , Tomáš Zima , Gábor Méhes , Michaela Kendall Bártů , Kristýna Němejcová , Pavel Dundr

{"title":"Somatic Genomic and Transcriptomic Characterization of Primary Ovarian Serous Borderline Tumors and Low-Grade Serous Carcinomas","authors":"Ivana Stružinská , Nikola Hájková , Jan Hojný , Eva Krkavcová , Romana Michálková , Quang Hiep Bui , Radoslav Matěj , Jan Laco , Jana Drozenová , Pavel Fabian , Petr Škapa , Zuzana Špůrková , David Cibula , Filip Frühauf , Tomáš Jirásek , Tomáš Zima , Gábor Méhes , Michaela Kendall Bártů , Kristýna Němejcová , Pavel Dundr","doi":"10.1016/j.jmoldx.2023.12.004","DOIUrl":"10.1016/j.jmoldx.2023.12.004","url":null,"abstract":"<div><p>Low-grade serous carcinoma (LGSC) may develop from serous borderline tumor (SBT) tissue, where the micropapillary type (mSBT) presents the highest risk for progression. The sensitivity of LGSC to standard chemotherapy is limited, so alternative therapeutic approaches, including targeted treatment, are needed. However, knowledge about the molecular landscape of LGSC and mSBT is limited. A sample set of 137 pathologically well-defined cases (LGSC, 97; mSBT, 40) was analyzed using capture DNA next-generation sequencing (727 genes) and RNA next-generation sequencing (147 genes) to show the landscape of somatic mutations, gene fusions, expression pattern, and prognostic and predictive relevance. Class 4/5 mutations in the main driver genes (<em>KRAS</em>, <em>BRAF</em>, <em>NRAS</em>, <em>ERBB2</em>, <em>USP9X</em>) were detected in 48% (14/29) of mSBT cases and 63% (47/75) of LGSC cases. The <em>USP9X</em> mutation was detected in only 17% of LGSC cases. RNA next-generation sequencing revealed gene fusions in 6 of 64 LGSC cases (9%) and 2 of 33 mSBT cases (9%), and a heterogeneous expression profile across LGSC and mSBT. No molecular characteristics were associated with greater survival. The somatic genomic and transcriptomic profiles of 35 mSBT and 85 LGSC cases are compared for the first time. Candidate oncogenic gene fusions involving BRAF, FGFR2, or NF1 as a fusion partner were identified. Molecular testing of LGSC may be used in clinical practice to reveal therapeutically significant targets.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 4","pages":"Pages 257-266"},"PeriodicalIF":4.1,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139571913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

2024 Updates to American Medical Association's Current Procedural Terminology Codes for Oncology Panel Testing 2024 更新美国医学会当前肿瘤学小组检测程序术语代码。

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-25 DOI: 10.1016/j.jmoldx.2024.01.002

Victoria M. Pratt

引用次数: 0

Detection of Constitutional Structural Variants by Optical Genome Mapping 通过光学基因组图谱检测体质结构变异：产后样本的多点研究

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-09 DOI: 10.1016/j.jmoldx.2023.12.003

Ulrich Broeckel , M. Anwar Iqbal , Brynn Levy , Nikhil Sahajpal , Peter L. Nagy , Gunter Scharer , Vanessa Rodriguez , Aaron Bossler , Aaron Stence , Cindy Skinner , Steven A. Skinner , Ravindra Kolhe , Roger Stevenson

{"title":"Detection of Constitutional Structural Variants by Optical Genome Mapping","authors":"Ulrich Broeckel , M. Anwar Iqbal , Brynn Levy , Nikhil Sahajpal , Peter L. Nagy , Gunter Scharer , Vanessa Rodriguez , Aaron Bossler , Aaron Stence , Cindy Skinner , Steven A. Skinner , Ravindra Kolhe , Roger Stevenson","doi":"10.1016/j.jmoldx.2023.12.003","DOIUrl":"10.1016/j.jmoldx.2023.12.003","url":null,"abstract":"<div><p>Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase of a multisite study compares the performance of optical genome mapping and current standard-of-care methods for diagnostic testing of individuals with constitutional disorders, including neurodevelopmental impairments and congenital anomalies. Among the 627 analyses in phase 2, 405 were of retrospective samples supplied by five diagnostic centers in the United States and 94 were prospective samples collected over 18 months by two diagnostic centers (June 2021 to October 2022). Additional samples represented a family cohort to determine inheritance (<em>n</em> = 119) and controls (<em>n</em> = 9). Full concordance of results between optical genome mapping and one or more standard-of-care diagnostic tests was 98.6% (618/627), with partial concordance in an additional 1.1% (7/627).</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 3","pages":"Pages 213-226"},"PeriodicalIF":4.1,"publicationDate":"2024-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1525157824000047/pdfft?md5=2d75aee1dc5ab620f8305a3524a0e176&pid=1-s2.0-S1525157824000047-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139425896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk 与遗传性癌症风险相关的基因变异产前检测：实验室经验和注意事项

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2024-01-01 DOI: 10.1016/j.jmoldx.2023.12.002

Lynne S. Rosenblum, Stephanie M. Auger, Hui Zhu, Zhaoqing Zhou, Winnie Xin, Jennifer Reiner, Zena Wolf, Natalia T. Leach

{"title":"Prenatal Testing for Variants in Genes Associated with Hereditary Cancer Risk","authors":"Lynne S. Rosenblum, Stephanie M. Auger, Hui Zhu, Zhaoqing Zhou, Winnie Xin, Jennifer Reiner, Zena Wolf, Natalia T. Leach","doi":"10.1016/j.jmoldx.2023.12.002","DOIUrl":"10.1016/j.jmoldx.2023.12.002","url":null,"abstract":"<div><p>Prenatal molecular genetic testing for familial variants that cause inherited disorders has been performed for decades and is accepted as standard of care. However, the spectrum of genes considered for prenatal testing is expanding because of genetic testing for hereditary cancer risk (HCR) and inclusion of conditions with associated cancer risk in carrier screening panels. A few of these disorders, such as ataxia telangiectasia and Bloom syndrome, include increased cancer risk as part of the phenotype, already meet professional guidelines for prenatal testing, and may be associated with increased cancer risk in heterozygous carriers. In addition, recent studies implicate heterozygosity for variants in lysosomal storage disease genes in HCR etiology. Currently, there is no specific professional guidance regarding prenatal testing for HCR. To determine the prevalence of such testing, we reviewed 1345 consecutive prenatal specimens received in our laboratory for familial variant-specific testing and identified 65 (4.8%) with a known or likely HCR component, plus 210 (15.6%) for lysosomal storage disease. These specimens were classified into five distinct categories for clarity and to enable evaluation. Our experience assessing prenatal specimens for variants associated with HCR, with or without a constitutional phenotype, provides metrics for and contributes to the points to consider in prenatal testing for HCR.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 3","pages":"Pages 202-212"},"PeriodicalIF":4.1,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1525157823003124/pdfft?md5=640b202dbd5219d6d91f8e235eb28c54&pid=1-s2.0-S1525157823003124-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139068911","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Scientific Integrity Policy 科学诚信政策

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2023-12-18 DOI: 10.1016/S1525-1578(23)00300-8

引用次数: 0

Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus–Associated Cancers 比较 qPCR、ddPCR 和 NGS 液体活检对 HPV 相关癌症的诊断效果

IF 4.1 3区医学

Journal of Molecular Diagnostics Pub Date : 2023-12-15 DOI: 10.1016/j.jmoldx.2023.11.007

Saskia Naegele , Daniel A. Ruiz-Torres , Yan Zhao , Deborah Goss , Daniel L. Faden

{"title":"Comparing the Diagnostic Performance of Quantitative PCR, Digital Droplet PCR, and Next-Generation Sequencing Liquid Biopsies for Human Papillomavirus–Associated Cancers","authors":"Saskia Naegele , Daniel A. Ruiz-Torres , Yan Zhao , Deborah Goss , Daniel L. Faden","doi":"10.1016/j.jmoldx.2023.11.007","DOIUrl":"10.1016/j.jmoldx.2023.11.007","url":null,"abstract":"<div><p><span><span>Human papillomavirus (HPV)-associated cancers, including </span>oropharyngeal squamous cell carcinoma<span><span> (HPV + OPSCC), cervical cancer, and squamous cell carcinoma of the anus (HPV + SCCA), release circulating tumor HPV DNA (ctHPVDNA) into the blood. The diagnostic performance of ctHPVDNA detection depends on the approaches used and the individual assay metrics. A comparison of these approaches has not been systematically performed to inform expected performance, which in turn affects clinical interpretation. A meta-analysis was performed using Ovid MEDLINE, Embase, and Web of Science Core Collection databases to assess the diagnostic accuracy of ctHPVDNA detection across cancer anatomic sites, detection platforms, and blood components. The population included patients with HPV + OPSCC, HPV-associated cervical cancer, and HPV + SCCA with pretreatment samples analyzed by quantitative PCR (qPCR), </span>digital droplet PCR (ddPCR), or next-generation sequencing (NGS). Thirty-six studies involving 2986 patients met the inclusion criteria. The sensitivity, specificity, and quality of each study were assessed and pooled for each analysis. The sensitivity of ctHPVDNA detection was greatest with NGS, followed by ddPCR and then qPCR when pooling all studies, whereas specificity was similar (sensitivity: ddPCR > qPCR, </span></span><em>P</em> < 0.001; NGS > ddPCR, <em>P</em> = 0.014). ctHPVDNA from OPSCC was more easily detected compared with cervical cancer and SCCA, overall (<em>P</em> = 0.044). In conclusion, detection platform, anatomic site of the cancer, and blood component used affects ctHPVDNA detection and must be considered when interpreting results. Plasma NGS-based testing may be the most sensitive approach for ctHPVDNA overall.</p></div>","PeriodicalId":50128,"journal":{"name":"Journal of Molecular Diagnostics","volume":"26 3","pages":"Pages 179-190"},"PeriodicalIF":4.1,"publicationDate":"2023-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138716155","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0