ABSTRACT
Background: Recurrent genetic alterations contributing to leukemogenesis have been identified in pediatric B-cell Acute Lymphoblastic Leukemia (B-ALL), and some are useful for refining classification, prognosis, and treatment selection. IKZF1plus is a complex biomarker associated with a poor prognosis. It is characterized by IKZF1 deletion coexisting with PAX5, CDKN2A/2B, or PAR1 region deletions. The mutational spectrum and clinical impact of these alterations have scarcely been explored in Mexican pediatric patients with B-ALL. Here, we report the frequency of the IKZF1plus profile and the mutational spectrum of IKZF1, PAX5, CDKN2A/2B, and ERG genes and evaluate their impact on overall survival (OS) in a group of patients with B-ALL. Methods: A total of 206 pediatric patients with de novo B-ALL were included. DNA was obtained from bone marrow samples at diagnosis before treatment initiation. A custom-designed next-generation sequencing panel was used for mutational analysis. Kaplan-Meier analysis was used for OS estimation. Results: We identified the IKZF1plus profile in 21.8% of patients, which was higher than that previously reported in other studies. A significantly older age (p=0.04), a trend toward high-risk stratification (p=0.06), and a decrease in 5-year Overall Survival (OS) (p=0.009) were observed, although heterogeneous treatment protocols in our cohort would have impacted OS. A mutation frequency higher than that reported was found for IKZF1 (35.9%) and CDKN2A/2B (35.9%) but lower for PAX5 (26.6%). IKZF1MUT group was older at diagnosis (p=0.0002), and most of them were classified as high-risk (73.8%, p=0.02), while patients with CDKN2A/2BMUT had a higher leukocyte count (p=0.01) and a tendency toward a higher percentage of blasts (98.6%, >50% blasts, p=0.05) than the non-mutated patients. A decrease in OS was found in IKZF1MUT and CDKN2A/2BMUT patients, but the significance was lost after IKZF1plus was removed. Discussion: Our findings demonstrated that Mexican patients with B-ALL have a higher prevalence of genetic markers associated with poor outcomes. Incorporating genomic methodologies into the diagnostic process, a significant unmet need in low- and mid-income countries, will allow a comprehensive identification of relevant alterations, improving disease classification, treatment selection, and the general outcome.
ABSTRACT
Introduction: Acute leukemias (AL) are the main types of cancer in children worldwide. In Mexico, they represent one of the main causes of death in children under 20 years of age. Most of the studies on the incidence of AL in Mexico have been developed in the urban context of Greater Mexico City and no previous studies have been conducted in the central-south of the country through a population-based study. The aim of the present work was to identify the general and specific incidence rates of pediatric AL in three states of the south-central region of Mexico considered as some of the marginalized populations of Mexico (Puebla, Tlaxcala, and Oaxaca). Methods: A population-based study was conducted. Children aged less than 20 years, resident in these states, and newly diagnosed with AL in public/private hospitals during the period 2021-2022 were identified. Crude incidence rates (cIR), standardized incidence rates (ASIRw), and incidence rates by state subregions (ASIRsr) were calculated. Rates were calculated using the direct and indirect method and reported per million children under 20 years of age. In addition, specific rates were calculated by age group, sex, leukemia subtype, and immunophenotype. Results: A total of 388 cases with AL were registered. In the three states, the ASIRw for AL was 51.5 cases per million (0-14 years); in Puebla, it was 53.2, Tlaxcala 54.7, and Oaxaca de 47.7. In the age group between 0-19 years, the ASIRw were 44.3, 46.4, 48.2, and 49.6, in Puebla, Tlaxcala, and Oaxaca, respectively. B-cell acute lymphoblastic leukemia was the most common subtype across the three states. Conclusion: The incidence of childhood AL in the central-south region of Mexico is within the range of rates reported in other populations of Latin American origin. Two incidence peaks were identified for lymphoblastic and myeloid leukemias. In addition, differences in the incidence of the disease were observed among state subregions which could be attributed to social factors linked to the ethnic origin of the inhabitants. Nonetheless, this hypothesis requires further investigation.
ABSTRACT
Fundamento: la evaluación de la calidad de vida relacionada con la salud, ha adquirido cada vez más importancia en la práctica de la medicina como indicador reflejo de la calidad de los diferentes tratamientos y sus resultados. En pacientes con enfermedad renal crónica terminal, la hemodiálisis como terapia de reemplazo renal mejora la sobrevida, pero no lo que la persona considera como calidad de vida. Objetivo: establecer el nivel de calidad de vida en pacientes con enfermedad renal crónica bajo hemodiálisis y el área (salud física, psicológica, relaciones sociales, ambiente) en la que presenta niveles bajos. Métodos: se utilizó un diseño no experimental, transversal, descriptivo. Se realizó un muestreo no probabilístico por conveniencia, que incluyó a 67 pacientes con enfermedad crónica terminal, inscritos en la unidad de hemodiálisis de un hospital público de la ciudad de Puebla. Se les aplicó el instrumento Whoqol-bref, para luego ordenar la información en Excel, se recurrió al programa SPSS para realizar pruebas estadísticas. Resultados: la calidad de vida de los pacientes bajo tratamiento de reemplazo renal con hemodiálisis tuvo una calidad baja (23, 88 %) y media (76, 12 %). El dominio menos afectado es el psicológico con 67, 01 puntos y el mayor es el físico con 60, 76. El dominio relacionado con la calidad de vida fue las relaciones sociales (p=0.000). Conclusiones: los pacientes en hemodiálisis presentan una calidad de vida media-baja y el área más afectada es la física, pero existe mayor correlación con las relaciones sociales, a mejor relación social mejor calidad de vida percibe el paciente.
Introduction: the evaluation of the quality of life related to health has assumed importance in the practice of medicine, as an indicator of the different treatments qualities and their results. In patients with end-stage chronic kidney disease, hemodialysis as a kidney replacement therapy improves survival, but not necessarily what the person thinks about quality of life. Objective: to establish the level of quality of life in patients with chronic kidney disease on hemodialysis and the area (physical, psychological health, social relations, the environment) in which low levels are presented. Methods: a non-experimental, transversal, and descriptive design was used. A non-probabilistic sample of convenience was carried out. The study was composed of 67 patients with end-stage chronic kidney disease, admitted in a hemodialysis unit of a public hospital in Puebla. Whogol-bref instrument was applied to them. Information was ordered in Excel and SPSS program was used to do statistical tests. Results: patients with kidney replacement treatment on hemodialysis had a low quality of life 23, 88 % and a medium 76, 12 %. The less affected domain was the psychological with 67, 01 points and the most affected one was the physical with 60, 76 %. The domain strongly related to quality of life was social relations (p=0, 000). Conclusion: patients on hemodialysis have a middle-low quality of life and the most affected area is physical. However, there is more correlation with social relations. The better social relation is, the better quality of life the patient gains.
