Beatriz Rosales-Rodríguez1,2, Juan Carlos Núñez-Enríquez3, Juan Manuel Mejía-Aranguré4,5, Haydeé Rosas-Vargas6. 1. Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720, Ciudad de México, Mexico. 2. Programa de Doctorado, Posgrado en Ciencias Biológicas, Universidad Nacional Autónoma de México, 04510, Ciudad de México, Mexico. 3. Unidad de Investigación Médica en Epidemiología Clínica, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720, Ciudad de México, Mexico. 4. Unidad de Investigación Médica en Epidemiología Clínica, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720, Ciudad de México, Mexico. juan.mejiaa@imss.gob.mx. 5. Coordinación de Investigación en Salud, IMSS, Torre Academia Nacional de Medicina, 06720, Ciudad de México, Mexico. juan.mejiaa@imss.gob.mx. 6. Unidad de Investigación Médica en Genética Humana, Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, 06720, Ciudad de México, Mexico. hayrov@gmail.com.
Abstract
PURPOSE OF REVIEW: The high prevalence of relapse in pediatric B-lineage acute lymphoblastic leukemia (B-ALL) despite the improvements achieved using current risk stratification schemes, demands more accurate methods for outcome prediction. Here, we provide a concise overview about the key advances that have expanded our knowledge regarding the somatic defects across B-ALL genomes, particularly focusing on copy number alterations (CNAs) and their prognostic impact. RECENT FINDINGS: The identification of commonly altered genes in B-ALL has inspired the development of risk classifiers based on copy number states such as the IKZF1plus and the United Kingdom (UK) ALL-CNA classifiers to improve outcome prediction in B-ALL. CNA-risk classifiers have emerged as effective tools to predict disease relapse; though, their clinical applications are yet to be transferred to routine practice.
PURPOSE OF REVIEW: The high prevalence of relapse in pediatric B-lineage acute lymphoblastic leukemia (B-ALL) despite the improvements achieved using current risk stratification schemes, demands more accurate methods for outcome prediction. Here, we provide a concise overview about the key advances that have expanded our knowledge regarding the somatic defects across B-ALL genomes, particularly focusing on copy number alterations (CNAs) and their prognostic impact. RECENT FINDINGS: The identification of commonly altered genes in B-ALL has inspired the development of risk classifiers based on copy number states such as the IKZF1plus and the United Kingdom (UK) ALL-CNA classifiers to improve outcome prediction in B-ALL. CNA-risk classifiers have emerged as effective tools to predict disease relapse; though, their clinical applications are yet to be transferred to routine practice.
Entities:
Keywords:
B-ALL; Copy number alterations; Pediatric leukemia; Risk stratification
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