2026-04-17T19:24:36Zhttps://recercat.cat/oai/request

oai:recercat.cat:11351/61812024-11-01T02:56:41Zcom_2072_378071com_2072_378040col_2072_378097

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes Vallespin, Elena Arias-Salgado, Elena G. Sánchez-Valdepeñas, Carmen Giménez, Yari Navarro, Susana Díaz de Heredia Rubio, Maria Cristina Galvez, Eva Institut Català de la Salut [Gálvez E] Servicio de Hematología y Oncología Pediátrica, Fundación de Investigación Biomédica, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. [Vallespín E] Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IDIPAZ, Madrid, Spain. Instituto de Investigaciones Biomédicas CSIC/UAM, IDIPaz, Madrid. [Arias-Salgado EG] Instituto de Investigaciones Biomédicas CSIC/UAM, IDIPaz, Madrid, Spain. [Sánchez-Valdepeñas C] Servicio de Hematología y Oncología Pediátrica, Fundación de Investigación Biomédica, Hospital Infantil Universitario Niño Jesús, Madrid, Spain. [Giménez Y, Navarro S] Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Madrid, Spain. Hematopoietic Innovative Therapies Division, Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas, Madrid, Spain. [Díaz de Heredia C] Grupo insuficiencias medulares de la SEHOP, Spain. Servei d’Oncologia i Hematologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain Vall d'Hebron Barcelona Hospital Campus Medul·la òssia - Malalties Seqüència de nucleòtids DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Bone Marrow Diseases ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::High-Throughput Nucleotide Sequencing ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::enfermedades de la médula ósea TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::secuenciación de nucleótidos de alto rendimiento Síndromes d'insuficiència de la medul·la òssia; Seqüenciació de nova generació Síndromes de insuficiencia de la médula ósea; Secuenciación de próxima generación Bone Marrow Failure Syndromes; Next-generation Sequencing 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. 2021-07-19T12:51:42Z 2021-07-19T12:51:42Z 2021-03-09 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Gálvez E, Vallespín E, Arias-Salgado EG, Sánchez-Valdepeñas C, Giménez Y, Navarro S, et al. Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes. HemaSphere. 2021 Mar 9;5(4):e539. 2572-9241 https://hdl.handle.net/11351/6181 10.1097/HS9.0000000000000539 33718801 000639295800001 eng HemaSphere;5(4) https://journals.lww.com/hemasphere/Fulltext/2021/04000/Next_generation_Sequencing_in_Bone_Marrow_Failure.3.aspx Attribution-NonCommercial-NoDerivatives 4.0 International http://creativecommons.org/licenses/by-nc-nd/4.0/ info:eu-repo/semantics/openAccess application/pdf Lippincott, Williams & Wilkins Scientia