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Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillance ideally depend on the identification of the mut...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951136/ https://www.ncbi.nlm.nih.gov/pubmed/33718801 http://dx.doi.org/10.1097/HS9.0000000000000539 |
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author | Gálvez, Eva Vallespín, Elena Arias-Salgado, Elena G. Sánchez-Valdepeñas, Carmen Giménez, Yari Navarro, Susana Río, Paula Bogliolo, Massimo Pujol, Roser Peiró, Montserrat Nevado, Julián Zubicaray, Josune Sebastián, Elena Catalá, Albert Beléndez, Cristina Díaz de Heredia, Cristina Galera, Ana Badell, Isabel Madero, Luis Perona, Rosario Sastre, Leandro Surrallés, Jordi Bueren, Juan Lapunzina, Pablo Sevilla, Julián |
author_facet | Gálvez, Eva Vallespín, Elena Arias-Salgado, Elena G. Sánchez-Valdepeñas, Carmen Giménez, Yari Navarro, Susana Río, Paula Bogliolo, Massimo Pujol, Roser Peiró, Montserrat Nevado, Julián Zubicaray, Josune Sebastián, Elena Catalá, Albert Beléndez, Cristina Díaz de Heredia, Cristina Galera, Ana Badell, Isabel Madero, Luis Perona, Rosario Sastre, Leandro Surrallés, Jordi Bueren, Juan Lapunzina, Pablo Sevilla, Julián |
author_sort | Gálvez, Eva |
collection | PubMed |
description | Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillance ideally depend on the identification of the mutated gene. A next-generation sequencing (NGS) panel of genes could be 1 initial genetic screening test to be carried out in a comprehensive study of IBMFSs, allowing molecular detection in affected patients. We designed 2 NGS panels of IBMFS genes: version 1 included 129 genes and version 2 involved 145 genes. The cohort included a total of 204 patients with suspected IBMFSs without molecular diagnosis. Capture-based targeted sequencing covered > 99% of the target regions of 145 genes, with more than 20 independent reads. No differences were seen between the 2 versions of the panel. The NGS tool allowed a total of 91 patients to be diagnosed, with an overall molecular diagnostic rate of 44%. Among the 167 patients with classified IBMFSs, 81 patients (48%) were diagnosed. Unclassified IBMFSs involved a total of 37 patients, of whom 9 patients (24%) were diagnosed. The preexisting diagnosis of 6 clinically classified patients (6%) was amended, implying a change of therapy for some of them. Our NGS IBMFS gene panel assay is a useful tool in the molecular diagnosis of IBMFSs and a reasonable option as the first tier genetic test in these disorders. |
format | Online Article Text |
id | pubmed-7951136 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Lippincott Williams & Wilkins |
record_format | MEDLINE/PubMed |
spelling | pubmed-79511362021-03-12 Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes Gálvez, Eva Vallespín, Elena Arias-Salgado, Elena G. Sánchez-Valdepeñas, Carmen Giménez, Yari Navarro, Susana Río, Paula Bogliolo, Massimo Pujol, Roser Peiró, Montserrat Nevado, Julián Zubicaray, Josune Sebastián, Elena Catalá, Albert Beléndez, Cristina Díaz de Heredia, Cristina Galera, Ana Badell, Isabel Madero, Luis Perona, Rosario Sastre, Leandro Surrallés, Jordi Bueren, Juan Lapunzina, Pablo Sevilla, Julián Hemasphere Article Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillance ideally depend on the identification of the mutated gene. A next-generation sequencing (NGS) panel of genes could be 1 initial genetic screening test to be carried out in a comprehensive study of IBMFSs, allowing molecular detection in affected patients. We designed 2 NGS panels of IBMFS genes: version 1 included 129 genes and version 2 involved 145 genes. The cohort included a total of 204 patients with suspected IBMFSs without molecular diagnosis. Capture-based targeted sequencing covered > 99% of the target regions of 145 genes, with more than 20 independent reads. No differences were seen between the 2 versions of the panel. The NGS tool allowed a total of 91 patients to be diagnosed, with an overall molecular diagnostic rate of 44%. Among the 167 patients with classified IBMFSs, 81 patients (48%) were diagnosed. Unclassified IBMFSs involved a total of 37 patients, of whom 9 patients (24%) were diagnosed. The preexisting diagnosis of 6 clinically classified patients (6%) was amended, implying a change of therapy for some of them. Our NGS IBMFS gene panel assay is a useful tool in the molecular diagnosis of IBMFSs and a reasonable option as the first tier genetic test in these disorders. Lippincott Williams & Wilkins 2021-03-09 /pmc/articles/PMC7951136/ /pubmed/33718801 http://dx.doi.org/10.1097/HS9.0000000000000539 Text en Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association. This is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (CCBY-NC-ND) (http://creativecommons.org/licenses/by-nc-nd/4.0/) , where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. |
spellingShingle | Article Gálvez, Eva Vallespín, Elena Arias-Salgado, Elena G. Sánchez-Valdepeñas, Carmen Giménez, Yari Navarro, Susana Río, Paula Bogliolo, Massimo Pujol, Roser Peiró, Montserrat Nevado, Julián Zubicaray, Josune Sebastián, Elena Catalá, Albert Beléndez, Cristina Díaz de Heredia, Cristina Galera, Ana Badell, Isabel Madero, Luis Perona, Rosario Sastre, Leandro Surrallés, Jordi Bueren, Juan Lapunzina, Pablo Sevilla, Julián Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title_full | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title_fullStr | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title_full_unstemmed | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title_short | Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes |
title_sort | next-generation sequencing in bone marrow failure syndromes and isolated cytopenias: experience of the spanish network on bone marrow failure syndromes |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7951136/ https://www.ncbi.nlm.nih.gov/pubmed/33718801 http://dx.doi.org/10.1097/HS9.0000000000000539 |
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