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Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients
According to current guidelines, in chronic lymphocytic leukemia (CLL), only the TP53 molecular status must be evaluated prior to every treatment’s initiation. However, additional heterogeneous genetic events are known to confer a proliferative advantage to the tumor clone and are associated with pr...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031851/ https://www.ncbi.nlm.nih.gov/pubmed/35454001 http://dx.doi.org/10.3390/diagnostics12040953 |
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author | Ibáñez, Mariam Such, Esperanza Liquori, Alessandro Avestisyan, Gayane Andreu, Rafael Vicente, Ana Macián, María José Melendez, Mari Carmen Morote-Faubel, Mireya Asensi, Pedro Lloret, María Pilar Jarque, Isidro Picón, Isabel Pacios, Alejandro Donato, Eva Mas-Ochoa, Carmen Alonso, Carmen Cañigral, Carolina Sempere, Amparo Romero, Samuel Santiago, Marta Sanz, Guillermo F. de la Rubia, Javier Senent, Leonor Luna, Irene |
author_facet | Ibáñez, Mariam Such, Esperanza Liquori, Alessandro Avestisyan, Gayane Andreu, Rafael Vicente, Ana Macián, María José Melendez, Mari Carmen Morote-Faubel, Mireya Asensi, Pedro Lloret, María Pilar Jarque, Isidro Picón, Isabel Pacios, Alejandro Donato, Eva Mas-Ochoa, Carmen Alonso, Carmen Cañigral, Carolina Sempere, Amparo Romero, Samuel Santiago, Marta Sanz, Guillermo F. de la Rubia, Javier Senent, Leonor Luna, Irene |
author_sort | Ibáñez, Mariam |
collection | PubMed |
description | According to current guidelines, in chronic lymphocytic leukemia (CLL), only the TP53 molecular status must be evaluated prior to every treatment’s initiation. However, additional heterogeneous genetic events are known to confer a proliferative advantage to the tumor clone and are associated with progression and treatment failure in CLL patients. Here, we describe the implementation of a comprehensive targeted sequencing solution that is suitable for routine clinical practice and allows for the detection of the most common somatic single-nucleotide and copy number variants in genes relevant to CLL. We demonstrate that this cost-effective strategy achieves variant detection with high accuracy, specificity, and sensitivity. Furthermore, we identify somatic variants and copy number variations in genes with prognostic and/or predictive value, according to the most recent literature, and the tool provides evidence about subclonal events. This next-generation sequencing (NGS) capture-based target assay is an improvement on current approaches in defining molecular prognostic and/or predictive variables in CLL patients. |
format | Online Article Text |
id | pubmed-9031851 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-90318512022-04-23 Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients Ibáñez, Mariam Such, Esperanza Liquori, Alessandro Avestisyan, Gayane Andreu, Rafael Vicente, Ana Macián, María José Melendez, Mari Carmen Morote-Faubel, Mireya Asensi, Pedro Lloret, María Pilar Jarque, Isidro Picón, Isabel Pacios, Alejandro Donato, Eva Mas-Ochoa, Carmen Alonso, Carmen Cañigral, Carolina Sempere, Amparo Romero, Samuel Santiago, Marta Sanz, Guillermo F. de la Rubia, Javier Senent, Leonor Luna, Irene Diagnostics (Basel) Article According to current guidelines, in chronic lymphocytic leukemia (CLL), only the TP53 molecular status must be evaluated prior to every treatment’s initiation. However, additional heterogeneous genetic events are known to confer a proliferative advantage to the tumor clone and are associated with progression and treatment failure in CLL patients. Here, we describe the implementation of a comprehensive targeted sequencing solution that is suitable for routine clinical practice and allows for the detection of the most common somatic single-nucleotide and copy number variants in genes relevant to CLL. We demonstrate that this cost-effective strategy achieves variant detection with high accuracy, specificity, and sensitivity. Furthermore, we identify somatic variants and copy number variations in genes with prognostic and/or predictive value, according to the most recent literature, and the tool provides evidence about subclonal events. This next-generation sequencing (NGS) capture-based target assay is an improvement on current approaches in defining molecular prognostic and/or predictive variables in CLL patients. MDPI 2022-04-11 /pmc/articles/PMC9031851/ /pubmed/35454001 http://dx.doi.org/10.3390/diagnostics12040953 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Ibáñez, Mariam Such, Esperanza Liquori, Alessandro Avestisyan, Gayane Andreu, Rafael Vicente, Ana Macián, María José Melendez, Mari Carmen Morote-Faubel, Mireya Asensi, Pedro Lloret, María Pilar Jarque, Isidro Picón, Isabel Pacios, Alejandro Donato, Eva Mas-Ochoa, Carmen Alonso, Carmen Cañigral, Carolina Sempere, Amparo Romero, Samuel Santiago, Marta Sanz, Guillermo F. de la Rubia, Javier Senent, Leonor Luna, Irene Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title | Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title_full | Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title_fullStr | Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title_full_unstemmed | Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title_short | Panel Sequencing for Clinically Oriented Variant Screening and Copy Number Detection in Chronic Lymphocytic Leukemia Patients |
title_sort | panel sequencing for clinically oriented variant screening and copy number detection in chronic lymphocytic leukemia patients |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9031851/ https://www.ncbi.nlm.nih.gov/pubmed/35454001 http://dx.doi.org/10.3390/diagnostics12040953 |
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