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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
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.
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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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