Evidence map›Paper›PMID 33947144›Full record

ArticleJournal of personalized medicine2021

Comprehensive NGS Panel Validation for the Identification of Actionable Alterations in Adult Solid Tumors.

Paula Martínez-Fernández, Patricia Pose, Raquel Dolz-Gaitón, Arantxa García, Inmaculada Trigo-Sánchez, Enrique Rodríguez-Zarco, MJose Garcia-Ruiz, Ibon Barba, Marta Izquierdo-García, Jennifer Valero-Garcia and 10 more

Open access · goldAbstract read
In one paragraph

Article in Journal of personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 41% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 9 citations in OpenAlex.

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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

20 authors at 7 institutions in 1 country.

Paula Martínez-FernándezImegen-Health in Code Group, 46980 Paterna, Spain.
Patricia PoseServicio de Anatomía Patológica, Hospital Universitario de la Ribera, 46600 Alcira, Spain.ORCID 0000-0002-3089-9948
Raquel Dolz-GaitónServicio de Anatomía Patológica, Hospital Universitario de la Ribera, 46600 Alcira, Spain.ORCID 0000-0002-6200-7692
Arantxa GarcíaServicio de Genética Molecular y Radiobiología, Centro Oncológico de Galicia, 15009 A Coruña, Spain.
Inmaculada Trigo-SánchezServicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
Enrique Rodríguez-ZarcoServicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.ORCID 0000-0002-0813-8114
MJose Garcia-RuizImegen-Health in Code Group, 46980 Paterna, Spain.
Ibon BarbaImegen-Health in Code Group, 46980 Paterna, Spain.
Marta Izquierdo-GarcíaImegen-Health in Code Group, 46980 Paterna, Spain.
Jennifer Valero-GarciaImegen-Health in Code Group, 46980 Paterna, Spain.
Carlos RuizImegen-Health in Code Group, 46980 Paterna, Spain.
Marián LázaroImegen-Health in Code Group, 46980 Paterna, Spain.
Paula CarbonellImegen-Health in Code Group, 46980 Paterna, Spain.ORCID 0000-0001-5468-1663
Pablo GargalloImegen-Health in Code Group, 46980 Paterna, Spain.ORCID 0000-0001-9720-8542
Carlos MéndezServicio de Oncología Médica, Centro Oncológico de Galicia, 15009 A Coruña, Spain.
Juan José Ríos-MartínServicio de Anatomía Patológica, Hospital Universitario Virgen Macarena, 41009 Sevilla, Spain.
Alberto Palmeiro-UriachLaboratorio de Anatomía Patológica, Hospital General Universitario de Castellón, 12004 Castellón, Spain.
Natalia Camarasa-LilloAnatomía Patológica, Hospital Lluís Alcanyís de Xàtiva, 46800 Xàtiva, Spain.
Jerónimo Forteza-VilaAnatomía Patológica, Universidade de Santiago de Compostela, 15705 Santiago de Compostela, Spain.
Inés CalabriaImegen-Health in Code Group, 46980 Paterna, Spain.
Instituto de Medicina Genómica · ESHospital Universitario Virgen Macarena · ESCentro Oncológico de Galicia · ESHospital de La Ribera · ESHospital General Universitari de Castelló · ESHospital Universitario Lluís Alcanyís · ESUniversidade de Santiago de Compostela · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The increasing identification of driver oncogenic alterations and progress of targeted therapies addresses the need of comprehensive alternatives to standard molecular methods. The translation into clinical practice of next-generation sequencing (NGS) panels is actually challenged by the compliance of high quality standards for clinical accreditation. Herein, we present the analytical and clinical feasibility study of a hybridization capture-based NGS panel (Action OncoKitDx) for the analysis of somatic mutations, copy number variants (CNVs), fusions, pharmacogenetic SNPs and Microsatellite Instability (MSI) determination in formalin-fixed paraffin-embedded (FFPE) tumor samples. A total of 64 samples were submitted to extensive analytical validation for the identification of previously known variants. An additional set of 166 tumor and patient-matched normal samples were sequenced to assess the clinical utility of the assay across different tumor types. The panel demonstrated good specificity, sensitivity, reproducibility, and repeatability for the identification of all biomarkers analyzed and the 5% limit of detection set was validated. Among the clinical cohorts, the assay revealed pathogenic genomic alterations in 97% of patient cases, and in 82.7%, at least one clinically relevant variant was detected. The validation of accuracy and robustness of this assay supports the Action OncoKitDx's utility in adult solid tumors.

Indexed as

actionable mutationsadult solid tumorsgene panelsnext-generation sequencing (NGS)precision oncologytargeted therapiesvalidation

Identifiers

PMID33947144
PMCPMC8145002
OpenAlexW3157155022

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.