2026-09-14T13:18:25Zhttps://gredos.usal.es/oai/request

oai:gredos.usal.es:10366/1474812025-04-30T20:42:36Zcom_10366_132632com_10366_4512com_10366_3823col_10366_132633

Forero-Castro, Maribel Montaño, Adrián Robledo, Cristina García de Coca, Alfonso Fuster, José Luis Heras, Natalia de las Queizán, José A. Hernández-Sánchez, María Corchete Sánchez, Luis Antonio Martín Izquierdo, Marta Ribera, Jordi Ribera, Jose M. Benito Sánchez, Rocío Hernández Rivas, Jesús María 2021-10-27T10:25:37Z 2021-10-27T10:25:37Z 2020 Forero-Castro, M., Montaño, A., Robledo, C., García de Coca, A., Fuster, J. L., de las Heras, N., Queizán, J. A., et al. (2020). Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse. Diagnostics, 10(7), 455. MDPI AG. Retrieved from http://dx.doi.org/10.3390/diagnostics10070455 http://hdl.handle.net/10366/147481 10.3390/diagnostics10070455 2075-4418 [EN]The clonal basis of relapse in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is complex and not fully understood. Next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) were carried out in matched diagnosis–relapse samples from 13 BCP-ALL patients to identify patterns of genetic evolution that could account for the phenotypic changes associated with disease relapse. The integrative genomic analysis of aCGH, MLPA and NGS revealed that 100% of the BCP-ALL patients showed at least one genetic alteration at diagnosis and relapse. In addition, there was a significant increase in the frequency of chromosomal lesions at the time of relapse (p = 0.019). MLPA and aCGH techniques showed that IKZF1 was the most frequently deleted gene. TP53 was the most frequently mutated gene at relapse. Two TP53 mutations were detected only at relapse, whereas the three others showed an increase in their mutational burden at relapse. Clonal evolution patterns were heterogeneous, involving the acquisition, loss and maintenance of lesions at relapse. Therefore, this study provides additional evidence that BCP-ALL is a genetically dynamic disease with distinct genetic profiles at diagnosis and relapse. Integrative NGS, aCGH and MLPA analysis enables better molecular characterization of the genetic profile in BCP-ALL patients during the evolution from diagnosis to relapse application/pdf eng MDPI Acute lymphoblastic leukemia (ALL) Relapse NGS Array comparative genomic hybridization (aCGH) Multiplex ligation-dependent probe amplification (MLPA) IKZF1 TP53 Leukemia, Lymphoid Comparative Genomic Hybridization Gene Amplification 3207.08 Hematología leucemia linfoide hibridación genómica comparativa amplificación génica Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://doi.org/10.3390/diagnostics10070455 SA271P18 info:eu-repo/semantics/openAccess Diagnostics 10 7 455