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Summary: Here, we present a protocol to generate B cell restricted mouse models of loss-of-function genetic drivers typical of lymphoproliferative disorders, using stem cell engineering of murine strains carrying B cell restricted Cas9 expression. We describe steps for preparing lentivirus expressing sgRNA-mCherry, isolating hematopoietic stem and progenitor cells, and in vitro transduction. We then detail the transplantation of engineered cells into recipient mice and verification of gene edits. These mouse models represent versatile platforms to model complex disease traits typical of lymphoproliferative disorders.For complete details on the use and execution of this protocol, please refer to ten Hacken et al.,1 ten Hacken et al.,2 and ten Hacken et al.3 : Publisher’s note: Undertaking any experimental protocol requires adherence to local institutional guidelines for laboratory safety and ethics.

Circulating microbiome has been very little studied for blood malignancies. Here, the authors show specific microbiome signatures in the blood are associated with different types of myeloid malignancies and specific genetic mutations.

Abstract BIRC3 is monoallelically deleted in up to 80% of chronic lymphocytic leukemia (CLL) cases harboring del(11q). In addition, truncating mutations in the remaining allele of this gene can lead to BIRC3 biallelic inactivation, which has been shown to be a marker for reduced survival in CLL. Nevertheless, the biological mechanisms by which these lesions could contribute to del(11q) CLL pathogenesis and progression are partially unexplored. We implemented the CRISPR/Cas9-editing system to generate isogenic CLL cell lines harboring del(11q) and/or BIRC3 mutations, modeling monoallelic and biallelic BIRC3 loss. Our results reveal that monoallelic BIRC3 deletion in del(11q) cells promotes non-canonical NF-κB signaling activation via RelB-p52 nuclear translocation, being these effects allelic dose-dependent and therefore further enhanced in del(11q) cells with biallelic BIRC3 loss. Moreover, we demonstrate ex vivo in primary cells that del(11q) cases including BIRC3 within their deleted region show evidence of non-canonical NF-κB activation which correlates with high BCL2 levels and enhanced sensitivity to venetoclax. Furthermore, our results show that BIRC3 mutations in del(11q) cells promote clonal advantage in vitro and accelerate leukemic progression in an in vivo xenograft model. Altogether, this work highlights the biological bases underlying disease progression of del(11q) CLL patients harboring BIRC3 deletion and mutation.

In the last years, the use of thrombopoietin receptor agonists (TPO-RA), eltrombopag and romiplostim, has improved the management of immune thrombocytopenia (ITP). Moreover, eltrombopag is also active in patients with aplastic anemia and myelodysplastic syndrome. However, their mechanisms of action and signaling pathways still remain controversial. In order to gain insight into the mechanisms underlying eltrombopag therapy, a gene expression profile (GEP) analysis in patients treated with this drug was carried out. Fourteen patients with chronic ITP were studied by means of microarrays before and during eltrombopag treatment. Median age was 78 years (range, 35–87 years); median baseline platelet count was 14 × 109/L (range, 2–68 × 109/L). Ten patients responded to the therapy, two cases relapsed after an initial response and the remaining two were refractory to the therapy. Eltrombopag induced relevant changes in the hematopoiesis, platelet activation and degranulation, as well as in megakaryocyte differentiation, with overexpression of some transcription factors and the genes PPBP, ITGB3, ITGA2B, F13A1, F13A1, MYL9 and ITGA2B. In addition, GP1BA, PF4, ITGA2B, MYL9, HIST1H4H and HIST1H2BH, genes regulated by RUNX1 were also significantly enriched after eltrombopag therapy. Furthermore, in non-responder patients, an overexpression of Bcl-X gene and genes involved in erythropoiesis, such as SLC4A1 and SLC25A39, was also observed. To conclude, overexpression in genes involved in megakaryopoiesis, platelet adhesion, degranulation and aggregation was observed in patients treated with eltrombopag. Moreover, an important role regarding heme metabolism was also present in non-responder patients.

Los pacientes que precisan rehabilitaciones extensas, en ocasiones, se les dificulta el tratamiento por el tiempo y visitas repetidas a la institución de salud. Reportamos un caso clínico con estas características, que presentaba, en todos los dientes remanentes considerable pérdida ósea por lesiones periodontales graves y caries dental, necesitado de extracciones dentarias múltiples en cirugía bucal y rápida rehabilitación protésica total de forma inmediata, pues disponía limitado tiempo para tratarse. Al paciente no era posible rehabilitar con implantes dentarios bajo estas condiciones. Para lograr este propósito se indicó prótesis inmediata, donde se agrupan etapas del tratamiento, para disminuir tiempo del procedimiento habitual, sin descuidar la calidad. Se logró un trabajo acorde a las exigencias estético-funcionales del paciente, agrupando los pasos de la cirugía bucal y la confección e instalación prótesis inmediata, en tiempo reducido.

Abstract CRISPR-Cas9 gene editing has transformed our ability to rapidly interrogate the functional impact of somatic mutations in human cancers. Droplet-based technology enables the analysis of Cas9-introduced gene edits in thousands of single cells. Using this technology, we analyze Ba/F3 cells engineered to express single or multiplexed loss-of-function mutations recurrent in chronic lymphocytic leukemia. Our approach reliably quantifies mutational co-occurrences, zygosity status, and the occurrence of Cas9 edits at single-cell resolution.

Abstract Background Several genetic alterations have been identified as driver events in chronic lymphocytic leukemia (CLL) pathogenesis and oncogenic evolution. Concurrent driver alterations usually coexist within the same tumoral clone, but how the cooperation of multiple genomic abnormalities contributes to disease progression remains poorly understood. Specifically, the biological and clinical consequences of concurrent high‐risk alterations such as del(11q)/ATM‐mutations and del(17p)/TP53‐mutations have not been established. Methods We integrated next‐generation sequencing (NGS) and clustered regularly interspaced short palindromic repeats (CRISPR)/Cas9 techniques to characterize the in vitro and in vivo effects of concurrent monoallelic or biallelic ATM and/or TP53 alterations in CLL prognosis, clonal evolution, and therapy response. Results Targeted sequencing analysis of the co‐occurrence of high‐risk alterations in 271 CLLs revealed that biallelic inactivation of both ATM and TP53 was mutually exclusive, whereas monoallelic del(11q) and TP53 alterations significantly co‐occurred in a subset of CLL patients with a highly adverse clinical outcome. We determined the biological effects of combined del(11q), ATM and/or TP53 mutations in CRISPR/Cas9‐edited CLL cell lines. Our results showed that the combination of monoallelic del(11q) and TP53 mutations in CLL cells led to a clonal advantage in vitro and in in vivo clonal competition experiments, whereas CLL cells harboring biallelic ATM and TP53 loss failed to compete in in vivo xenotransplants. Furthermore, we demonstrated that CLL cell lines harboring del(11q) and TP53 mutations show only partial responses to B cell receptor signaling inhibitors, but may potentially benefit from ATR inhibition. Conclusions Our work highlights that combined monoallelic del(11q) and TP53 alterations coordinately contribute to clonal advantage and shorter overall survival in CLL.

Abstract Background Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo. Little is known on how posterior canal BPPV affects health-related quality of life in patients diagnosed and treated at primary care facilities or on whether patients with subjective and objective disease perceive the effects differently. This study was designed to describe how patients diagnosed with posterior canal BPPV in primary care perceive disability. Methods Cross-sectional descriptive study performed at two urban primary care centers. Participants were patients aged 18 years or older with suspected posterior canal BPPV recruited for baseline evaluation in a clinical trial on the effectiveness of the Epley maneuver in primary care. The recruitment period was from November 2012 to January 2015. Perceived disability was evaluated using the Dizziness Handicap Inventory – Screening version (DHI-S). Other variables collected were age and sex, a history or diagnosis of anxiety or depression, treatment with antidepressants and/or anxiolytics, and results of the Dix-Hallpike (DH) test, which was considered positive when it triggered vertigo with or without nystagmus and negative when it triggered neither. Results The DH test was positive in 134 patients, 40.30% of whom had objective BPPV (vertigo with nystagmus). The median age of the patients was 52 years (interquartile range [IQR], 39.00–68.50 years) and 76.1% were women. The median total score on the DHI-S was 16 out of 40 (IQR, 8.00–22.00). Scores were higher (greater perceived disability) in women (p

Abstract Background Chronic lymphocytic leukemia (CLL) is a highly genetically heterogeneous disease. Although CLL has been traditionally considered as a mature B cell leukemia, few independent studies have shown that the genetic alterations may appear in CD34+ hematopoietic progenitors. However, the presence of both chromosomal aberrations and gene mutations in CD34+ cells from the same patients has not been explored. Methods Amplicon-based deep next-generation sequencing (NGS) studies were carried out in magnetically activated-cell-sorting separated CD19+ mature B lymphocytes and CD34+ hematopoietic progenitors (n = 56) to study the mutational status of TP53, NOTCH1, SF3B1, FBXW7, MYD88, and XPO1 genes. In addition, ultra-deep NGS was performed in a subset of seven patients to determine the presence of mutations in flow-sorted CD34+CD19− early hematopoietic progenitors. Fluorescence in situ hybridization (FISH) studies were performed in the CD34+ cells from nine patients of the cohort to examine the presence of cytogenetic abnormalities. Results NGS studies revealed a total of 28 mutations in 24 CLL patients. Interestingly, 15 of them also showed the same mutations in their corresponding whole population of CD34+ progenitors. The majority of NOTCH1 (7/9) and XPO1 (4/4) mutations presented a similar mutational burden in both cell fractions; by contrast, mutations of TP53 (2/2), FBXW7 (2/2), and SF3B1 (3/4) showed lower mutational allele frequencies, or even none, in the CD34+ cells compared with the CD19+ population. Ultra-deep NGS confirmed the presence of FBXW7, MYD88, NOTCH1, and XPO1 mutations in the subpopulation of CD34+CD19− early hematopoietic progenitors (6/7). Furthermore, FISH studies showed the presence of 11q and 13q deletions (2/2 and 3/5, respectively) in CD34+ progenitors but the absence of IGH cytogenetic alterations (0/2) in the CD34+ cells. Combining all the results from NGS and FISH, a model of the appearance and expansion of genetic alterations in CLL was derived, suggesting that most of the genetic events appear on the hematopoietic progenitors, although these mutations could induce the beginning of tumoral cell expansion at different stage of B cell differentiation. Conclusions Our study showed the presence of both gene mutations and chromosomal abnormalities in early hematopoietic progenitor cells from CLL patients.

INTRODUCCIÓN. Este artículo presenta los efectos de un programa interuniversitario de especialización en competencias digitales basado en la metodología didáctica de affective e-learning. El programa formativo nace del proyecto I+D+i denominado Evaluación y desarrollo de dos competencias genéricas en estudiantes de primer año del grado de maestro en educación primaria. El grupo de 109 participantes pertenece al título de magisterio de Educación Primaria de las Facultades de Educación de la Universidad de Oviedo, la Universidad de Jaén y en la Universidad de Granada. MÉTODO. Tras el diseño del programa formativo se aplica un cuestionario ad-hoc validado por jueces expertos externos. El instrumento formado por 49 ítems tiene una estabilidad de escala aplicada con un Alfa de Cronbach de 0,786. Este cuestionario se fundamenta en el Marco Común de Competencia Digital Docente del Instituto Nacional de Tecnologías Educativas y de Formación del Profesorado. RESULTADOS. Se demuestran diferencias significativas entre el pretest y el postest en la comprensión y aplicación de habilidades de la competencia digital, en términos de mejora en las destrezas de configuración, uso, autonomía, análisis, búsqueda y cumplimiento de estándares. DISCUSIÓN. Los hallazgos encontrados avalan la efectividad de aplicar un modelo de affective e-learning que se adapte a los conocimientos previos y los distintos ritmos y estilos de aprendizaje del grupo de participantes en su formación universitaria.

Copyright of Boletin Clinico Hospital Infantil del Estado de Sonora is the property of Asociacion Medica del Hospital Infantil del Estado de Sonora A.C. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

CRISPR/Cas9 allows the generation of knockout cell lines and null zygotes by inducing site-specific double-stranded breaks. In most cases the DSB is repaired by non-homologous end joining, resulting in small nucleotide insertions or deletions that can be used to construct knockout alleles. However, these mutations do not produce the desired null result in all cases, but instead generate a similar, functionally active protein. This effect could limit the therapeutic efficiency of gene therapy strategies based on abrogating oncogene expression, and therefore needs to be considered carefully. If there is an acceptable degree of efficiency of CRISPR/Cas9 delivery to cells, the key step for success lies in the effectiveness of a specific sgRNA at knocking out the oncogene, when only one sgRNA can be used. This study shows that the null effect could be increased with an sgRNA targeting the splice donor site (SDS) of the chosen exon. Following this strategy, the generation of null alleles would be facilitated in two independent ways: the probability of producing a frameshift mutation and the probability of interrupting the canonical mechanism of pre-mRNA splicing. In these contexts, we propose to improve the loss-of-function yield driving the CRISPR system at the SDS of critical exons.

Introducción: Se ha mencionado que tener un familiar directo con enfermedad renal es un factor de riesgo para el padecimiento. El objetivo del estudio fue conocer la prevalencia de enfermedad renal temprana en niños familiares de pacientes con enfermedad renal crónica terminal (ERCT). Métodos: Se realizó un estudio de tamiz en niños aparentemente sanos, familiares en primer o segundo grado de pacientes con ERCT en programa reemplazo renal (hemodiálisis o trasplante renal). Previa firma de consentimiento informado se realizó el examen físico completo. Se tomó una muestra de sangre para la determinación de creatinina y electrolitos séricos, así como examen general de orina. Resultados: Se incluyeron 45 sujetos, mediana de edad 9.6 años, 24 (53%) fueron varones. Se encontraron alteraciones urinarias/enfermedad renal en 11 niños (24.4%). La alteración urinaria más frecuente fue hematuria, encontrada en seis sujetos, seguida de microalbuminuria, encontrada en cuatro. Siete estaban en estadio 2 de enfermedad renal y cuatro en estadio 1. Conclusiones: El estudio de los familiares de pacientes en terapia sustitutiva renal permite identificar individuos con etapas tempranas de enfermedad renal.

El presente trabajo introduce una aproximación crítica en torno al uso de la estrategia de texto enriquecido para la mejora de la comprensión lectora del alumnado sordo. El análisis de la lectura y, en concreto, de la comprensión lectora, como destreza lingüística compleja, desemboca en la concretización de la misma en el alumnado sordo. La utilización creativa del texto enriquecido posibilita la mejora del proceso comprensivo de textos escritos en este alumnado. Más aún, si se hace uso de recursos y aplicaciones tecnológicas que despiertan la motivación del alumnado. De igual forma que enrique la respuesta educativa que ofrece el profesorado en su práctica profesional. En definitiva, nuestra aportación persigue promover la utilización de una estrategia de escaso uso en el ámbito escolar. De manera que el profesorado conozca sus posibilidades educativas y, consecuentemente, haga un uso creativo y contextualizado del texto enriquecido.

Este artículo analiza el grado de bienestar del alumnado participante en un programa formativo desarrollado en la modalidad de blended learning en el que participan personas con y sin discapacidad auditiva. La pertinencia de esta temática queda justificada por la escasa presencia en la literatura científica de investigaciones sobre educación inclusiva en entornos virtuales. El estudio exploratorio muestra datos parciales extraídos de un cuestionario de elaboración propia, validado en experiencias anteriores. Los resultados ofrecidos relacionan el grado de cumplimiento de las expectativas del alumnado y la sensación de bienestar percibida durante el desarrollo de la acción formativa, en el contexto inclusivo. Las conclusiones apuntan a la consecución generalizada de un alto grado de bienestar estimado desde el análisis de evidencias referidas al acompañamiento afectivo y a la personalización de las estrategias, recursos y dinámicas tecnológico-didácticas según las preferencias individuales. Los indicadores analizados señalan la observancia de la accesibilidad, el fomento de la participación creativa y colaborativa, el disfrute en la convivencia presencial y en línea y la evitación de situaciones de ansiedad, frustración y desgana.

To analyze the impact of the 11q deleted (11q-) cells in CLL patients on the time to first therapy (TFT) and overall survival (OS), 2,493 patients with CLL were studied. 242 patients (9.7%) had 11q-. Fluorescence in situ hybridization (FISH) studies showed a threshold of 40% of deleted cells to be optimal for showing that clinical differences in terms of TFT and OS within 11q- CLLs. In patients with ≥40% of losses in 11q (11q-H) (74%), the median TFT was 19 months compared with 44 months in CLL patients with

BackgroundPatients with chronic lymphocytic leukemia and 13q deletion as their only FISH abnormality could have a different outcome depending on the number of cells displaying this aberration. Thus, cases with a high number of 13q- cells (13q-H) had both shorter overall survival and time to first therapy. The goal of the study was to analyze the genetic profile of 13q-H patients.Design and methodsA total of 102 samples were studied, 32 of which served as a validation cohort and five were healthy donors.ResultsChronic lymphocytic leukemia patients with higher percentages of 13q- cells (>80%) showed a different level of gene expression as compared to patients with lower percentages (ConclusionsThis study provides new evidence regarding the heterogeneity of 13q deletion in chronic lymphocytic leukemia patients, showing that apoptosis, proliferation as well as miRNA regulation are involved in cases with higher percentages of 13q- cells.

El presente artículo presenta un Campus Virtual adaptado al aprendizaje en interacción de personas sordas. Mundosigno incorpora novedosas herramientas y aplicaciones didáctico-tecnológicas que garantizan la accesibilidad y usabilidad de las personas con déficit auditivo en la enseñanza virtual. El esclarecimiento en el uso de los diversos materiales y metodologías educativas se introduce desde una perspectiva mixta que defiende la integración de las corrientes de pensamiento educativas a través de la puesta en marcha del Curso de Especialización de Lengua de Signos Española y su Interpretación en Entornos Virtuales y Presenciales.

El presente trabajo describe de forma sintética una experiencia formativa semipresencial, en la que por primera vez han interactuado personas sordas, hipoacúsicas y oyentes en el aprendizaje de la Lengua de Signos Española. El campus virtual Mundosigno, donde acaba de desarrollarse esta experiencia de coaprendizaje, obtuvo el Sello Europeo a la Innovación en la Enseñanza y Aprendizaje de las Lenguas en 2009. Integra sistemas de videoconferencia multipunto que permiten la impartición de docencia en línea a pequeños grupos, la celebración de sesiones de tutoría y examen en línea, la participación en foros adaptados con mensajes videograbados en Lengua de Signos y la incorporación de la teleinterpretación como vehículo de comunicación entre personas oyentes y sordas. En este trabajo se presenta un avance de los resultados del cuestionario general de satisfacción construido para valorar este innovador programa. Este instrumento está estructurado en seis dimensiones que indagan sobre la experiencia personal del alumnado en educación a distancia, la información recibida anterior al inicio del curso, el grado de satisfacción alcanzando en los progresos de aprendizaje, los aspectos organizativos y tutoriales y las relaciones afectivo-sociales.

INTRODUCTION. This article presents the impact of an interuniversity specialization program about digital competences based on the Affective e-Learning methodology. The educational program originated from an R+D project called Evaluation and development of two generic competences in first year Primary Education students. A sample of 109 students from the Primary Education Degree at the universities of Oviedo, Jaén and Granada participated in the study. METHOD. After completing the design of the educational program, an ad-hoc questionnaire validated by external experts was applied. The 49-item tool had a Cronbach Alpha value of 0.786. This questionnaire was based on the Common Framework for Teaching Digital Competence of the National Institute of Educational Technologies and Teacher Training. RESULTS. Significant differences were reported between pretests and posttests for the understanding and application of digital competence abilities, more specifically regarding configuration skills, use, autonomy, analysis, search and compliance to standards. DISCUSSION. Findings endorsed the effectivity of applying an affective e-learning model that adapts to students' preliminary knowledge and different learning paces and styles. [ABSTRACT FROM AUTHOR]

Copyright of Duazary. Revista de la Facultad de Ciencias de la Salud is the property of Universidad del Magdalena and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

This study analyses the level of well-being of the deaf and non-deaf students that participate in a blended learning experience. This study finds its relevance in the lack of scientific literature regarding inclusive education in virtual environments. The exploratory study shows a set of partial data of an ad hoc survey, validated in previous experiences. The results relate the students' expectations and the perception of well-being along the development of the experience, in an inclusive context. The findings indicate that there is a widespread high level of well-being which has been inferred from the analysis of evidence related to affective assistance and the personalization of technological and didactic strategies, resources and dynamics. The indicators analysed highlight accessibility, the increase of creative and collaborative participation, the face-to-face and virtual well-being and the avoidance of anxiety, frustration and reluctance. [ABSTRACT FROM AUTHOR]

Treatment with the hypomethylating agent 5-azacytidine (AZA) increases survival in high-risk (HR) myelodysplastic syndrome (MDS) patients, but predicting patient response and overall survival remains challenging. To address these issues, we analyzed mutational and transcriptional profiles in CD34+ hematopoietic stem/progenitor cells (HSPCs) before and following AZA therapy in MDS patients. AZA treatment led to a greater reduction in the mutational burden in both blast and hematological responders than non-responders. Blast and hematological responders showed transcriptional evidence of pre-treatment enrichment for pathways such as oxidative phosphorylation, MYC targets, and mTORC1 signaling. While blast non-response was associated with TNFa signaling and leukemia stem cell signature, hematological non-response was associated with cell-cycle related pathways. AZA induced similar transcriptional responses in MDS patients regardless of response type. Comparison of blast responders and non-responders to normal controls, allowed us to generate a transcriptional classifier that could predict AZA response and survival. This classifier outperformed a previously developed gene signature in a second MDS patient cohort, but signatures of hematological responses were unable to predict survival. Overall, these studies characterize the molecular consequences of AZA treatment in MDS HSPCs and identify a potential tool for predicting AZA therapy responses and overall survival prior to initiation of therapy.

Background: Erythropoiesis stimulating agents (ESAs) are the first-line therapy in patients with lower-risk myelodysplastic syndromes (LR-MDS). Some predictive factors for ESAs response have been identified. Type and number of somatic mutations have been associated with prognosis and response to therapies in MDS patients. Objectives: The objective was to evaluate the outcomes after ESAs in patients with LR-MDS and to address the potential predictive value of somatic mutations in ESAs-treated patients. Design: Multi-center retrospective study of a cohort of 722 patients with LR-MDS included in the SPRESAS (Spanish Registry of Erythropoietic Stimulating Agents Study) study. Retrospective analysis of 65 patients with next generation sequencing (NGS) data from diagnosis. Methods: ESAs’ efficacy and safety were evaluated in patients receiving ESAs and best supportive care (BSC). To assess the potential prognostic value of somatic mutations in erythroid response (ER) rate and outcome, NGS was performed in responders and non-responders. Results: ER rate for ESAs-treated patients was 65%. Serum erythropoietin (EPO) level

Genome-editing systems such as Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 technology have uncovered new opportunities to model diseases such as chronic lymphocytic leukemia. CRISPR/Cas9 is an important means of advancing functional studies of Chronic Lymphocytic Leukemia (CLL) through the incorporation, elimination and modification of somatic mutations in CLL models.

The knowledge of chronic lymphocytic leukemia (CLL) has progressively deepened during the last forty years. Research activities and clinical studies have been remarkably fruitful in novel findings elucidating multiple aspects of the pathogenesis of the disease, improving CLL diagnosis, prognosis and treatment. Whereas the diagnostic criteria for CLL have not substantially changed over time, prognostication has experienced an expansion with the identification of new biological and genetic biomarkers. Thanks to next-generation sequencing (NGS), an unprecedented number of gene mutations were identified with potential prognostic and predictive value in the 2010s, although significant work on their validation is still required before they can be used in a routine clinical setting. In terms of treatment, there has been an impressive explosion of new approaches based on targeted therapies for CLL patients during the last decade. In this current chemotherapy-free era, BCR and BCL2 inhibitors have changed the management of CLL patients and clearly improved their prognosis and quality of life. In this review, we provide an overview of these novel advances, as well as point out questions that should be further addressed to continue improving the outcomes of patients.

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.