Ibáñez Company, MariamSuch Taboada, EsperanzaLiquori, AlessandroAndreu Lapiedra, RafaelVicente, AnaAvestisyan, GayaneProducción Científica UCH 2022UCH. Departamento de Ciencias Biomédicas2023-03-142023-03-142022-04-11Ibáñez, M., Such, E., Liquori, A., Avestisyan, G., Andreu, R., Vicente, A. et al. (2022). Panel sequencing for clinically oriented variant screening and copy number detection in chronic lymphocytic leukemia patients. Diagnostics, vol. 12, i. 4 (11 apr.), art. 953. DOI: https://doi.org/10.3390/diagnostics120409532075-4418 (Electrónico)http://hdl.handle.net/10637/14152Este artículo se encuentra disponible en la página web de la revista en la siguiente URL: https://www.mdpi.com/2075-4418/12/4/953En esta investigación también participan: María José Macián, Mari Carmen Meléndez, Mireya Morote-Faubel, Pedro Asensi, María Pilar Lloret, Isidro Jarque, Isabel Picón, Alejandro Pacios, Eva Donato, Carmen Mas-Ochoa, Carmen Alonso, Carolina Cañigral, Amparo Sempere, Samuel Romero, Marta Santiago, Guillermo F. Sanz, Javier de la Rubia, Leonor Senent e Irene Luna.Este artículo de investigación pertenece a la sección "Pathology and Molecular Diagnostics".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.application/pdfenopen accessMolecular genetics.Genética molecular.Chronic lymphocytic leukemia - Genetic aspects.Leucemia linfocítica crónica - Aspectos genéticos.Artículohttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.es